M. Vekemans

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Diagnostic préimplantatoirePre-implantation genetic diagnosis

M. Vekemans, 2005 .

Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome

A. Munnich, B. Gener, S. Lyonnet, 2003, Nature Genetics.

Molecular characterization of partial trisomy 16q24.1-qter: clinical report and review of the literature.

S. Romana, M. Lelorc'h, M. Vekemans, 2002, American journal of medical genetics.

Novel KIF7 mutations extend the phenotypic spectrum of acrocallosal syndrome

A. Munnich, N. Boddaert, P. Beales, 2012, Journal of Medical Genetics.

Matthew-Wood syndrome is caused by truncating mutations in the retinol-binding protein receptor gene STRA6.

A. Munnich, S. Lyonnet, M. Vekemans, 2007, American journal of human genetics.

Human neural tube defects: developmental biology, epidemiology, and genetics.

John R Gilbert, J. Gilbert, M. Vekemans, 2005, Neurotoxicology and teratology.

An ovarian dysgerminoma in Down syndrome. Hypothesis about the association.

A. Sasco, A. Chompret, M. Vekemans, 2006, International journal of gynecological cancer : official journal of the International Gynecological Cancer Society.

An ovarian dysgerminoma in Down syndrome. Hypothesis about the association

A. Sasco, A. Chompret, M. Vekemans, 2004, International Journal of Gynecologic Cancer.

An excess of testicular germ cell tumors in down's syndrome

A. Sasco, M. Vekemans, D. Satgé, 1997, Cancer.

Women’s Attitudes Toward Invasive and Noninvasive Testing When Facing a High Risk of Fetal Down Syndrome

L. Bussières, L. Salomon, M. Vekemans, 2019, JAMA network open.

Germline gain‐of‐function mutations of ALK disrupt central nervous system development

A. Munnich, O. Delattre, N. Boddaert, 2011, Human mutation.

Xq25 duplication: the crucial role of the STAG2 gene in this novel human cohesinopathy

J. Steffann, M. Vekemans, L. Colleaux, 2016, Clinical genetics.

Phenotype–genotype correlations in 17 new patients with an Xp11.23p11.22 microduplication and review of the literature

E. Bourel-ponchel, C. Rooryck, D. Lacombe, 2015, American journal of medical genetics. Part A.

17q21.31 Microdeletion: Brain Anomalies Leading to Prenatal Diagnosis

Y. Ville, C. Garel, M. Vekemans, 2014, Cytogenetic and Genome Research.

Cryptic terminal deletion of chromosome 9q34: a novel cause of syndromic obesity in childhood?

A. Munnich, M. Vekemans, M. D. de Blois, 2003, Journal of medical genetics.

Antenatal presentation of Bardet-Biedl syndrome may mimic Meckel syndrome.

A. Munnich, M. Gonzalès, M. Gubler, 2005, American journal of human genetics.

Clonal evolution in a myeloid cell line transformed to interleukin-3 independent growth by retroviral transduction and expression of p210bcr/abl.

M. Vekemans, P. Laneuville, G. Sun, 1992, Blood.

Myotonic dystrophy: does it affect ovarian follicular status and responsiveness to controlled ovarian stimulation?

A. Munnich, N. Frydman, R. Frydman, 2006, Human reproduction.

Three-dimensional reconstruction of the lower limb’s venous system in human fetuses using the computer-assisted anatomical dissection (CAAD) technique

M. Vekemans, V. Delmas, N. Kurobe, 2015, Surgical and Radiologic Anatomy.

Mutations in KIAA0586 Cause Lethal Ciliopathies Ranging from a Hydrolethalus Phenotype to Short-Rib Polydactyly Syndrome.

A. Munnich, A. Mégarbané, F. Clerget-Darpoux, 2015, American journal of human genetics.

Prenatal diagnosis of a satellited non‐acrocentric chromosome derived from a maternal translocation (10;13)(p13;p12) and review of literature

A. Munnich, L. Faivre, M. Vekemans, 1999, Prenatal diagnosis.

Expression of the PTEN tumour suppressor protein during human development.

C. Eng, J. Lees, M. Vekemans, 2000, Human molecular genetics.

A chromosome 14q11/TCR alpha/delta specific yeast artificial chromosome improves the detection rate and characterization of chromosome abnormalities in T-lymphoproliferative disorders.

E. Macintyre, A. Bernheim, C. Harrison, 1997, Blood.

Neurological phenotype in Waardenburg syndrome type 4 correlates with novel SOX10 truncating mutations and expression in developing brain.

A. Munnich, R. Touraine, W. Doerfler, 2000, American journal of human genetics.

β1-adrenergic antagonists improve sleep and behavioural disturbances in a circadian disorder, Smith-Magenis syndrome

A. Munnich, M. Vekemans, D. Sidi, 2001 .

Gene expression in pharyngeal arch 1 during human embryonic development.

David N. Messina, M. Lovett, E. Jabs, 2005, Human molecular genetics.

Transcriptome profiling of genes involved in neural tube closure during human embryonic development using long serial analysis of gene expression (long-SAGE).

J. Gilbert, S. Gregory, A. Ashley-Koch, 2012, Birth defects research. Part A, Clinical and molecular teratology.

Cost‐effectiveness of five prenatal screening strategies for trisomies and other unbalanced chromosomal abnormalities: model‐based analysis

Y. Ville, I. Durand-zaleski, C. Elie, 2019, Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology.

A Homozygous PDE6D Mutation in Joubert Syndrome Impairs Targeting of Farnesylated INPP5E Protein to the Primary Cilium

A. Munnich, J. Casanova, A. Abhyankar, 2014, Human mutation.

Whole exome sequencing diagnoses the first fetal case of Bainbridge-Ropers syndrome presenting as pontocerebellar hypoplasia type 1.

P. Nitschké, M. Vekemans, T. Attié-Bitach, 2018, Birth defects research.

Aspects of Digestive Tract Tumors in Down Syndrome: A Literature Review

A. Sasco, M. Vekemans, J. Fléjou, 2006, Digestive Diseases and Sciences.

Human neural crest cells display molecular and phenotypic hallmarks of stem cells

A. Munnich, P. Wincker, P. Xu, 2008, Human molecular genetics.

EFTUD2 haploinsufficiency leads to syndromic oesophageal atresia

A. Munnich, I. Simonic, S. Mehta, 2012, Journal of Medical Genetics.

An investigation of factors influencing the survival of trisomic fetuses in the mouse.

M. Vekemans, 1989, Progress in clinical and biological research.

Insulin‐like 4 (INSL4) gene expression in human embryonic and trophoblastic tissues

M. Vidaud, M. Vekemans, D. Bellet, 1998, Molecular reproduction and development.

Molecular characterisation of a prenatally diagnosed 5q15q21.3 deletion and review of the literature

M. Vekemans, J. Martinovic, T. Attié-Bitach, 2006, Prenatal diagnosis.

Contiguous gene deletion within chromosome arm 10q is associated with juvenile polyposis of infancy, reflecting cooperation between the BMPR1A and PTEN tumor-suppressor genes.

J. Vermeesch, C. Eng, D. Stoppa-Lyonnet, 2006, American journal of human genetics.

Molecular karyotyping in human constitutional cytogenetics.

S. Romana, M. Vekemans, L. Colleaux, 2005, European journal of medical genetics.

Improvement of cystic fibrosis using antitumoral drugs: a hypothesis.

A. Munnich, S. Lyonnet, L. Faivre, 2000, Medical hypotheses.

BBS10 mutations are common in ‘Meckel’-type cystic kidneys

R. Salomon, M. Gubler, R. Bouvier, 2010, Journal of Medical Genetics.

Balanced translocations among couples with two or more spontaneous abortions: Are males and females equally likely to be carriers?

M. Vekemans, A. Lippman‐Hand, 2004, Human Genetics.

Failure to detect an 8p22–8p23.1 duplication in patients with Kabuki (Niikawa–Kuroki) syndrome

A. Munnich, A. Toutain, A. Verloes, 2005, European Journal of Human Genetics.

A tumor profile in Edwards syndrome (trisomy 18)

M. Nishi, M. Vekemans, N. Sirvent, 2016, American journal of medical genetics. Part C, Seminars in medical genetics.

Wilms' tumor and gonadal dysgenesis in a child with the 2q37.1 deletion syndrome

A. Munnich, S. Lyonnet, M. Vekemans, 1998, Clinical genetics.

Large-scale deletions and SMADIP1 truncating mutations in syndromic Hirschsprung disease with involvement of midline structures.

A. Munnich, R. Touraine, A. Toutain, 2001, American journal of human genetics.

Expression of the RET proto-oncogene in human embryos.

A. Munnich, S. Lyonnet, M. Vekemans, 1998, American journal of medical genetics.

Chimera and other fertilization errors

M. Vekemans, C. Turleau, V. Malan, 2006, Clinical genetics.

Molecular cytogenetic analysis of five 2q37 deletions: refining the brachydactyly candidate region.

S. Romana, M. Vekemans, M. Prieur, 2006, European journal of medical genetics.

Automated fluorescent genotyping detects 10% of cryptic subtelomeric rearrangements in idiopathic syndromic mental retardation

A. Munnich, S. Lyonnet, M. Vekemans, 2002, Journal of medical genetics.

A novel automated strategy for screening cryptic telomeric rearrangements in children with idiopathic mental retardation

A. Munnich, S. Lyonnet, S. Romana, 2001, European Journal of Human Genetics.

Fragile X.

B. Popovich, M. Vekemans, D. Rosenblatt, 1982, The New England journal of medicine.

The genetical difference between the DBA/2 and C57Bl/6 strains in cortisone-induced cleft palate.

M. Vekemans, 1982, Canadian journal of genetics and cytology. Journal canadien de genetique et de cytologie.

Identification of a novel ARL13B variant in a Joubert syndrome-affected patient with retinal impairment and obesity

A. Munnich, N. Boddaert, S. Lisgo, 2014, European Journal of Human Genetics.

A case report of Down syndrome and centroblastic lymphoma.

M. Vekemans, J. Diebold, D. Satgé, 1996, Pathology, research and practice.

A fetus with Down syndrome and intratubular germ cell neoplasia.

G. Jacobsen, M. Vekemans, D. Satgé, 1996, Pediatric pathology & laboratory medicine : journal of the Society for Pediatric Pathology, affiliated with the International Paediatric Pathology Association.

Cytogenetic and histological features of a human embryo with homogeneous chromosome 8 trisomy

M. Vekemans, C. Golzio, T. Attié-Bitach, 2006, Prenatal diagnosis.

Histological and cytogenetic findings in a malignant tumor of the chest wall and lung (Askin tumor)

M. Vekemans, T. Seemayer, J. Chadarévian, 2004, Virchows Archiv A.

Diagnostic yield of chromosomal microarray analysis in fetuses with isolated increased nuchal translucency: a French multicenter study

L. Salomon, C. Bénéteau, M. Vekemans, 2018, Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology.

Mutations in the planar cell polarity genes CELSR1 and SCRIB are associated with the severe neural tube defect craniorachischisis

R. Stevenson, N. Greene, A. Copp, 2012, Human mutation.

CC2D2A mutations in Meckel and Joubert syndromes indicate a genotype–phenotype correlation

A. Munnich, N. Boddaert, R. Salomon, 2009, Human mutation.

Interstitial duplication of the short arm of chromosome 2: report of a new case and review.

A. Mégarbané, M. Vekemans, D. Theophile, 1997, Journal of medical genetics.

NIPBL mutations and genetic heterogeneity in Cornelia de Lange syndrome

R. Redon, N. Carter, S. Lyonnet, 2004, Journal of Medical Genetics.

Refining the clinicopathological pattern of cerebral proliferative glomeruloid vasculopathy (Fowler syndrome): report of 16 fetal cases.

C. Fallet-Bianco, A. Laquérriere, M. Vekemans, 2009, European journal of medical genetics.

Truncating Neurotrypsin Mutation in Autosomal Recessive Nonsyndromic Mental Retardation

A. Munnich, P. Sonderegger, D. Bacq, 2002, Science.

Mutation in IFT80 in a fetus with the phenotype of Verma-Naumoff provides molecular evidence for Jeune-Verma-Naumoff dysplasia spectrum

A. Munnich, D. Cavalcanti, M. Vekemans, 2009, Journal of Medical Genetics.

Non‐invasive prenatal testing for trisomy 21 based on analysis of cell‐free fetal DNA circulating in the maternal plasma

J. Oury, L. Bussières, L. Salomon, 2015, Prenatal diagnosis.

molecular evidence for the Jeune-Verma-Naumoff dysplasia spectrum

A. Munnich, D. Cavalcanti, M. Vekemans, 2009 .

Portohepatic shunt in a Down syndrome patient with an interchange trisomy 47,XY,-2,+der(2),+der(21)t(2;21)(p13;q22.1)mat.

M. Vekemans, M. Kieran, V. D. Der Kaloustian, 1992, American journal of medical genetics.

Occurrence of left versus right heart hypoplasia in a pair of dizygotic twins

A. Benachi, M. Vekemans, F. Encha-Razavi, 2003, American journal of medical genetics. Part A.

Identification and mapping of six microdissected genomic DNA probes to the proximal region of mouse chromosome 1.

D. Malo, P. Gros, S. Vidal, 1992, Genomics.

Animal model: genetic control of the survival of trisomic fetuses in mice: a preliminary report.

M. Vekemans, T. Trasler, Michel Vekemans, 1987, American journal of medical genetics.

Fetal Cerebral Ventricular Dilatation: Etiopathogenic Study of 130 Observations.

Y. Ville, J. Bernard, M. Vekemans, 2017, Birth defects research.

Monozygotic twins discordant for 18q21.2qter deletion detected by array CGH in amniotic fluid.

Y. Ville, J. Bernard, M. Vekemans, 2013, European journal of medical genetics.

Outgrowth of Stable Class I Major Histocompatibility Complex‐Expressing Subsets From Immunogenic Variants of a Murine Mammary Carcinoma: Association with a Differentially Staining Region on Chromosome 9

B. Elliott, M. Vekemans, L. Brissette, 1991, Genes, chromosomes & cancer.

Single cell multiplex PCR amplification of five dystrophin gene exons combined with gender determination.

A. Munnich, P. Ray, M. Vekemans, 2001, Molecular human reproduction.

Recurrent Williams-Beuren syndrome in a sibship suggestive of maternal germ-line mosaicism.

A. Munnich, S. Lyonnet, M. Vekemans, 1999, American journal of human genetics.

Origin of nondisjunction in trisomy 8 and trisomy 8 mosaicism

E. Blennow, S. Kitsiou‐Tzeli, A. Tsezou, 1998, European Journal of Human Genetics.

Paternal deletion of the GNAS imprinted locus (including Gnasxl) in two girls presenting with severe pre- and post-natal growth retardation and intractable feeding difficulties

A. Munnich, G. Pinto, L. Faivre, 2005, European Journal of Human Genetics.

Contiguous gene deletion of TBX5 and TBX3 leads to a varible phenotype with combined features of holt‐oram and ulnar‐mammary syndromes

F. Escande, M. Vekemans, E. Bieth, 2013, American journal of medical genetics. Part A.

Spectrum of NSD1 mutations in Sotos and Weaver syndromes

A. Munnich, D. Lacombe, S. Lyonnet, 2003, Journal of medical genetics.

Absence of genomic imprinting at the DiGeorge locus.

M. Vekemans, D. Theophile, J. Augé, 1994, Acta geneticae medicae et gemellologiae.

Pure partial 7p trisomy including the TWIST,HOXA, and GLI3genes

A. Mégarbané, M. Vekemans, M. Prieur, 2001, Journal of medical genetics.

Folic acid blinded trial in identical twins with fragile X syndrome.

E. Andermann, M. Vekemans, D. Rosenblatt, 1985, American journal of human genetics.

Molecular characterization of a mouse Y chromosomal repetitive sequence that detects transcripts in the testis.

M. Vekemans, L. Zahed, C. H. Lee, 1992, Cytogenetics and cell genetics.

Susceptibility to cleft palate and the major histocompatibility complex (H-2) in the mouse.

M. Vekemans, F. Fraser, 1982, Teratology.

Large Duplications Can Be Benign Copy Number Variants: A Case of a 3.6-Mb Xq21.33 Duplication

Y. Ville, P. Sonigo, M. Vekemans, 2017, Cytogenetic and Genome Research.

Sodium/iodide symporter (NIS) gene expression is the limiting step for the onset of thyroid function in the human fetus.

M. Polak, S. Michiels, J. Bidart, 2007, The Journal of clinical endocrinology and metabolism.

Translocation between chromosomes 6 and 15 (45,XX,t(6;15)(q25;q11.2)) with further evidence for lack of imprinting of the insulin-like growth factor II/mannose-6-phosphate receptor in humans.

C. Polychronakos, M. Vekemans, V. D. Der Kaloustian, 1996, Journal of medical genetics.

A clinical and histopathological study of malformations observed in fetuses infected by the Zika virus

L. Nguyen, Y. Ville, M. Thiry, 2018, Brain pathology.

TCTN3 mutations cause Mohr-Majewski syndrome.

Colin A. Johnson, A. Munnich, Y. Ville, 2012, American journal of human genetics.

Prevalence of the microdeletion 22q11 in newborn infants with congenital conotruncal cardiac anomalies

A. Munnich, L. Iserin, S. Lyonnet, 1998, European Journal of Pediatrics.

Pure proximal deletion of chromosome 21 and kyphosis.

A. Toutain, S. Romana, M. Vekemans, 2007, European journal of medical genetics.

Mild phenotype in a 15‐year‐old boy with Pallister–Killian syndrome

A. Munnich, L. Faivre, S. Romana, 2003, American journal of medical genetics. Part A.

Subtle familial unbalanced translocation t(8;11)(p23.2;p15.5) in two fetuses with Beckwith–Wiedemann features

M. Vekemans, M. Prieur, P. Gosset, 2000, Prenatal diagnosis.

Chromosomal breakage in normal and fragile X subjects using low folate culture conditions.

B. Popovich, M. Vekemans, D. Rosenblatt, 1983, Journal of medical genetics.

JAGGED1 Gene Expression During Human Embryogenesis Elucidates the Wide Phenotypic Spectrum of Alagille Syndrome

M. Vekemans, F. Encha-Razavi, M. Hadchouel, 2000, Hepatology.

New insights into genotype–phenotype correlation for GLI3 mutations

A. Munnich, A. Mégarbané, A. Afenjar, 2014, European Journal of Human Genetics.

Pathophysiology of syndromic combined pituitary hormone deficiency due to a LHX3 defect in light of LHX3 and LHX4 expression during early human development.

S. Amselem, M. Vekemans, F. Encha-Razavi, 2004, Gene expression patterns : GEP.

Confined placental mosaicism and genomic imprinting.

M. Vekemans, D. Kalousek, 2000, Bailliere's best practice & research. Clinical obstetrics & gynaecology.

Dissection of the MYCN locus in Feingold syndrome and isolated oesophageal atresia

A. Munnich, N. Philip, A. Verloes, 2011, European Journal of Human Genetics.

Confined placental mosaicism.

M. Vekemans, D. Kalousek, 1996, Journal of medical genetics.

Delineation of EFTUD2 Haploinsufficiency‐Related Phenotypes Through a Series of 36 Patients

A. Munnich, N. Baena, A. Verloes, 2014, Human mutation.

Down syndrome congenital heart disease: A narrowed region and a candidate gene

E. Zackai, N. Spinner, G. Lyons, 2001, Genetics in Medicine.

Homozygous GLI3 variants observed in three unrelated patients presenting with syndromic polydactyly

F. Giuliano, M. Vekemans, A. Superti-Furga, 2021, American journal of medical genetics. Part A.

Reproductive genetic counselling in non-mosaic 47,XXY patients: implications for preimplantation or prenatal diagnosis: Case report and review.

N. Frydman, R. Fanchin, R. Frydman, 2003, Human reproduction.

Use of in situ hybridization in clinical cytogenetics.

M. Vekemans, L. Zahed, Laila Zahed, 1991, Pediatric pathology.

First fetal case of the 8q24.3 contiguous genes syndrome

Y. Ville, S. Romana, M. Vekemans, 2016, American journal of medical genetics. Part A.

Abnormal FGFR 3 expression in cartilage of thanatophoric dysplasia fetuses.

A. Munnich, J. Bonaventure, M. Vekemans, 1997, Human molecular genetics.

Genetic control of the survival of murine trisomy 16 fetuses.

M. Vekemans, D. Epstein, 1990, Teratology.

Clonal lines of aneuploid cells in Rothmund-Thomson syndrome.

M. Vekemans, V. D. Der Kaloustian, J. Mcgill, 1990, American journal of medical genetics.

Waardenburg syndrome in man and splotch mutants in the mouse: a paradigm of the usefulness of linkage and synteny homologies in mouse and man for the genetic analysis of human congenital malformations.

M. Vekemans, A. Delezoide, 1994, Biomedicine & pharmacotherapy = Biomedecine & pharmacotherapie.

Expression of the Sonic hedgehog (SHH ) gene during early human development and phenotypic expression of new mutations causing holoprosencephaly.

A. Munnich, M. Vekemans, T. Attié-Bitach, 1999, Human molecular genetics.

SHOX gene mutations and deletions in dyschondrosteosis or Leri‐Weill syndrome

A. Munnich, A. Toutain, M. Vekemans, 1999, Acta paediatrica (Oslo, Norway : 1992). Supplement.

SHOX mutations in dyschondrosteosis (Leri-Weill syndrome)

Arnold Munnich, Martine Le Merrer, Valérie Belin, 1998, Nature Genetics.

Cytogenetic investigation of a child with a mosaic isochromosome 18q and ring 18q.

A. Mégarbané, M. Vekemans, D. Sanlaville, 2007, European journal of medical genetics.

Impaired mitochondrial glutamate transport in autosomal recessive neonatal myoclonic epilepsy.

A. Munnich, P. Rustin, M. Vekemans, 2005, American journal of human genetics.

Highly conserved non-coding elements on either side of SOX9 associated with Pierre Robin sequence

A. Munnich, H. R. Crollius, D. McBride, 2009, Nature Genetics.

Long-Chain Fatty Acid Oxidation during Early Human Development

H. Waterham, R. Wanders, M. Vekemans, 2005, Pediatric Research.

Acyl-CoA dehydrogenase 9 (ACAD 9) is the long-chain acyl-CoA dehydrogenase in human embryonic and fetal brain.

R. Wanders, M. Vekemans, L. Ijlst, 2006, Biochemical and biophysical research communications.

A survey of ocular tumors in Down syndrome alone or associated with another genetic affection

D. Lacombe, M. Vekemans, M. Rethoré, 2006 .

A tumor profile in Down syndrome.

M. Nishi, M. Vekemans, D. Satgé, 1998, American journal of medical genetics.

Assisting reproduction of infertile men carrying a Robertsonian translocation.

N. Frydman, R. Frydman, S. Romana, 2001, Human reproduction.

Incidence of sex chromosome abnormalities in spermatozoa from patients entering an IVF or ICSI protocol

M. Vekemans, D. Theophile, J. Mandelbaum, 1998, Acta obstetricia et gynecologica Scandinavica.

SRY-negative XX fetus with complete male phenotype

E. Vilain, M. Fellous, K. McElreavey, 1994, The Lancet.

Prenatal diagnosis and normal outcome of a 46,XX/46,XY chimera: a case report.

A. Benachi, M. Vekemans, J. Bonnefont, 2007, Human reproduction.

A taxonomic approach to the del(4p) phenotype.

S. Aymé, P. Kaplan, M. Vekemans, 1985, American journal of medical genetics.

A tumor profile in Patau syndrome (trisomy 13)

M. Nishi, M. Vekemans, M. Chenard, 2017, American journal of medical genetics. Part A.

A new lethal syndrome of exomphalos, short limbs, and macrogonadism

A. Munnich, S. Lyonnet, L. Faivre, 1999, Journal of medical genetics.

An excess of chromosome 1 breakpoints in male infertility

R. Stallings, C. Lundsteen, Z. Tümer, 2004, European Journal of Human Genetics.

Identification of the IRXB gene cluster as candidate genes in severe dysgenesis of the ocular anterior segment.

P. Calvas, S. Romana, M. Vekemans, 2010, Investigative ophthalmology & visual science.

splotch (Sp2H ), a mutation affecting development of the mouse neural tube, shows a deletion within the paired homeodomain of Pax-3

P. Gros, M. Vekemans, D. Epstein, 1991, Cell.

A contribution to the differential diagnosis of the "group of schizophrenias": structural abnormality of chromosome 4.

R. Palmour, F. Ervin, M. Vekemans, 1994, Journal of psychiatry & neuroscience : JPN.

Comparative genomic hybridisation in mentally retarded patients with dysmorphic features and a normal karyotype

A. Munnich, A. Aurias, S. Romana, 2001, Clinical genetics.

Array-based comparative genomic hybridisation identifies high frequency of cryptic chromosomal rearrangements in patients with syndromic autism spectrum disorders

R Redon, D Sanlaville, L Colleaux, 2006, Journal of Medical Genetics.

Trisomy 22 and facioauriculovertebral (Goldenhar) sequence.

D. Chitayat, M. Vekemans, L. Zahed, 1993, American journal of medical genetics.

In situ hybridization studies for the detection of common aneuploidies in CVS

M. Vekemans, L. Zahed, M. Murer-Orlando, 1992, Prenatal diagnosis.

Identification and characterization of an inner ear-expressed human melanoma inhibitory activity (MIA)-like gene (MIAL) with a frequent polymorphism that abolishes translation.

N. Tommerup, M. Vekemans, T. Attié-Bitach, 2001, Genomics.

Deletion of the SIM1 gene (6q16.2) in a patient with a Prader-Willi-like phenotype

A. Munnich, L. Faivre, S. Jacquemont, 2002, Journal of medical genetics.

Intracellular folate distribution in cultured fibroblasts from patients with the fragile X syndrome.

B. Popovich, M. Vekemans, D. Rosenblatt, 1983, American journal of human genetics.

with expression during human development truncating mutations correlates CHD7 fetuses with Phenotypic spectrum of CHARGE syndrome in

A. Munnich, C. Cruaud, M. Gonzalès, 2009 .

Matthew‐Wood syndrome: Report of two new cases supporting autosomal recessive inheritance and exclusion of FGF10 and FGFR2

C. Fallet-Bianco, A. Benachi, M. Vekemans, 2007, American journal of medical genetics. Part A.

Phenotypic spectrum of CHARGE syndrome in fetuses with CHD7 truncating mutations correlates with expression during human development

J. Weissenbach, A. Munnich, C. Cruaud, 2005, Journal of Medical Genetics.

PAX8, TITF1, and FOXE1 gene expression patterns during human development: new insights into human thyroid development and thyroid dysgenesis-associated malformations.

M. Polak, P. Czernichow, M. Vekemans, 2005, The Journal of clinical endocrinology and metabolism.

Embryonic expression of the human MID1 gene and its mutations in Opitz syndrome

A. Munnich, G. Meroni, D. Lacombe, 2004, Journal of Medical Genetics.

PMX2B, a new candidate gene for Hirschsprung's disease

M. Vekemans, J. Amiel, B. Laudier, 2003, Clinical genetics.

Expression of the SMADIP1 gene during early human development

A. Munnich, S. Lyonnet, Y. Espinosa-Parrilla, 2002, Mechanisms of Development.

Expression and mutation analysis of BRUNOL3, a candidate gene for heart and thymus developmental defects associated with partial monosomy 10p

T. Meitinger, P. Scambler, S. Schuffenhauer, 2002, Journal of Molecular Medicine.

Expression of the PAX2 gene in human embryos and exclusion in the CHARGE syndrome.

A. Munnich, S. Lyonnet, M. Vekemans, 2000, American journal of medical genetics.

Expression of the sonic hedgehog gene in human embryos with neural tube defects.

M. Vekemans, F. Encha-Razavi, T. Attié-Bitach, 2000, Teratology.

The host resistance locus Bcg is tightly linked to a group of cytoskeleton-associated protein genes that include villin and desmin.

D. Malo, P. Gros, M. Vekemans, 1991, Genomics.

ISL1 Directly Regulates FGF10 Transcription during Human Cardiac Outflow Formation

A. Munnich, S. Lyonnet, G. Nuel, 2012, PloS one.

Holoprosencephaly and sacral agenesis in a fetus with a terminal deletion 7q36-->7qter.

M. Vekemans, A. Delezoide, N. Morichon‐Delvallez, 1993, Journal of medical genetics.

High throughput SNP and expression analyses of candidate genes for non-syndromic oral clefts

T. Beaty, M. Lovett, E. Jabs, 2005, Journal of Medical Genetics.

Simultaneous detection of MYC, BVR1, and PVT1 translocations in lymphoid malignancies by fluorescence in situ hybridization

E. Macintyre, M. Vekemans, I. Radford‐Weiss, 1998, Genes, chromosomes & cancer.

U-type exchange in a paracentric inversion as a possible mechanism of origin of an inverted tandem duplication of chromosome 8.

M. Vekemans, V. D. Der Kaloustian, R. Sparkes, 1994, American journal of medical genetics.

Trisomy 15 in chorionic villi and Prader‐Willi syndrome at birth

M. Vekemans, N. Morichon‐Delvallez, Y. Dumez, 1993, Prenatal diagnosis.

Cytogenetic analysis of chorionic villi: a technical assessment

M. Vekemans, T. Perry, 1986, Human Genetics.

19q13.11 deletion syndrome: a novel clinically recognisable genetic condition identified by array comparative genomic hybridisation

C Turleau, L Colleaux, M Vekemans, 2009, Journal of Medical Genetics.

Mutations in the Planar Cell Polarity Genes CELSR 1 and SCRIB are Associated with the Severe Neural Tube Defect

R. Stevenson, N. Greene, A. Copp, 2012 .

SNPs in the neural cell adhesion molecule 1 gene (NCAM1) may be associated with human neural tube defects

J. Gilbert, D. McClay, A. Bassuk, 2005, Human Genetics.

A French Approach to Test Fetuses with Ultrasound Abnormalities Using a Customized Microarray as First-Tier Genetic Test

Y. Ville, L. Salomon, J. Bernard, 2016, Cytogenetic and Genome Research.

Interstitial 9q22.3 microdeletion: clinical and molecular characterisation of a newly recognised overgrowth syndrome

R. Redon, N. Carter, A. Munnich, 2006, European Journal of Human Genetics.

Cleft lip/palate and CDH1/E-cadherin mutations in families with hereditary diffuse gastric cancer

M Vekemans, M. Lovett, E. Jabs, 2005, Journal of Medical Genetics.

Molecular characterization of a deletion encompassing the splotch mutation on mouse chromosome 1.

D. Malo, P. Gros, M. Vekemans, 1991, Genomics.

La CGH microarray : principe et applications en pathologie constitutionnelle

J. Vermeesch, A. Aurias, S. Romana, 2005 .

Germline deletion of the miR-1792 cluster causes growth and skeletal defects in humans

Patrick Callier, Laurence Faivre, Joana A. Vidigal, 2011 .

Germline deletion of the miR-17-92 cluster causes growth and skeletal defects in humans

Patrick Callier, Laurence Faivre, Joana A. Vidigal, 2011, Nature Genetics.

Maternal uniparental heterodisomy of chromosome 14: chromosomal mechanism and clinical follow up

A. Munnich, S. Lyonnet, M. Vekemans, 2000, Journal of medical genetics.

Prenatal diagnosis of a ring chromosome 14 in a fetus with a severe skeletal dysplasia

M. Vekemans, B. Aral, F. Encha-Razavi, 2008, Prenatal diagnosis.

Corpus Callosum Abnormalities and Short Femurs in Beckwith–Wiedemann Syndrome: A Report of Two Fetal Cases

A. Gelot, M. Vekemans, T. Attié-Bitach, 2018, Fetal and pediatric pathology.

Antenatal spectrum of CHARGE syndrome in 40 fetuses with CHD7 mutations

C. Fallet-Bianco, Y. Ville, B. Gilbert-Dussardier, 2012, Journal of Medical Genetics.

MCA/MR syndrome in a female infant with tetraploidy mosaicism: review of the human polyploid phenotype.

P. Kaplan, M. Vekemans, G. Wilson, 1988, American journal of medical genetics.

Congenital hyperinsulinism and mosaic abnormalities of the ploidy

C. Junien, C. Sempoux, F. Brunelle, 2005, Journal of Medical Genetics.

Triploidy arising from a first meiotic non-disjunction in a mother carrying a reciprocal translocation.

M. Vekemans, L. Rochon, 1990, Journal of medical genetics.

spectrum disorders rearrangements in patients with syndromic autism identifies high frequency of cryptic chromosomal Array-based comparative genomic hybridisation

R. Redon, S. Lyonnet, M. Vekemans, 2006 .

Genome‐wide screening using automated fluorescent genotyping to detect cryptic cytogenetic abnormalities in children with idiopathic syndromic mental retardation

R. Redon, A. Munnich, D. Bacq, 2004, Clinical genetics.

A presumptive translocation 1p;2q resulting in duplication 1p and deletion 2q.

M. Vekemans, V. D. Der Kaloustian, F. Halal, 1989, American journal of medical genetics.

Canadian multicenter randomized clinical trial of chorion villus sampling and amniocentesis. chromosome mosaicism in CVS and amniocentesis samples.

M. Vekemans, R. Gagné, D. Kalousek, 1992, Prenatal diagnosis.

Prenatal diagnosis of an 8p23.1 deletion in a fetus with a diaphragmatic hernia and review of the literature

A. Munnich, L. Faivre, M. Vekemans, 1998, Prenatal diagnosis.

Effect of Cell-Free DNA Screening vs Direct Invasive Diagnosis on Miscarriage Rates in Women With Pregnancies at High Risk of Trisomy 21: A Randomized Clinical Trial

J. Jais, Y. Ville, C. Elie, 2018, JAMA.

A 22-year French Experience with Solid Tumors in Children with Down Syndrome

A. Sasco, A. Chompret, D. Lacombe, 2003, Pediatric hematology and oncology.

Genetic models of carcinogenesis.

M. Vekemans, R. Bolande, 1983, Human pathology.

Chromosomal mosaicism on amniocentesis: an indication for fetoscopy?

E. Hamilton, M. Vekemans, T. Perry, 1981, The New England journal of medicine.

Annex 6: Chromosome mosaicism in CVS and amniocentesis samples

M. Vekemans, R. Gagné, M. Vekemans, 1992 .

Chorionic villi sampling: clinical experience, immediate complications, and patient attitudes.

E. Hamilton, M. Vekemans, A. Lippman, 1985, American journal of obstetrics and gynecology.

Upper limb malformations in DiGeorge syndrome.

A. Munnich, L. Iserin, S. Lyonnet, 1995, American journal of medical genetics.

A CGH study of 27 patients with CHARGE association

S. Lyonnet, C. Baumann, M. Vekemans, 2002, Clinical genetics.

KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes

A. Munnich, R. Hennekam, N. Katsanis, 2011, Nature Genetics.

LRRFIP1, a new FGFR1 partner gene associated with 8p11 myeloproliferative syndrome

S. Romana, M. Vekemans, I. Radford‐Weiss, 2009, Leukemia.

Distinct effects of allelic NFIX mutations on nonsense-mediated mRNA decay engender either a Sotos-like or a Marshall-Smith syndrome.

N. Carter, A. Munnich, R. Hennekam, 2010, American journal of human genetics.

Inversion of the circadian rhythm of melatonin in the Smith-Magenis syndrome.

B Claustrat, M Vekemans, A. Munnich, 2001, The Journal of pediatrics.

â 1-adrenergic antagonists improve sleep and behavioural disturbances in a circadian disorder , Smith-Magenis syndrome

A. Munnich, M. Vekemans, D. Sidi, 2001 .

A 23‐year‐old woman with down syndrome, type 1 neurofibromatosis, and breast carcinoma

A. Sasco, D. Goldgar, M. Vekemans, 2004, American journal of medical genetics. Part A.

A very rare cancer in Down syndrome: medulloblastoma. Epidemiological data from 13 countries

C. Stiller, Ó. Zurriaga, M. Nishi, 2013, Journal of Neuro-Oncology.

Down syndrome patients are less likely to develop some (but not all) malignant solid tumours

M. Vekemans, D. Satgé, 2011, Clinical genetics.

A Low-Grade Follicular Thyroid Carcinoma in a Woman with down Syndrome

A. Sasco, M. Vekemans, C. Mircher, 2004, Tumori.

Apparent Sotos syndrome (cerebral gigantism) in a child with trisomy 20p11.2-p12.1 mosaicism.

A. Munnich, L. Faivre, M. Vekemans, 2000, American journal of medical genetics.

Overgrowth and trisomy 15q26.1-qter including the IGF1 receptor gene: report of two families and review of the literature

A. Munnich, L. Pasquier, L. Faivre, 2002, European Journal of Human Genetics.

No evidence of unbalanced growth-related gene inheritance in a series of overgrowth syndrome patients.

A. Munnich, L. Faivre, M. Vekemans, 2001, American journal of medical genetics.

Functional disomy of the Xq28 chromosome region

A. Munnich, S. Romana, M. Vekemans, 2005, European Journal of Human Genetics.

High‐throughput sequencing of a 4.1 Mb linkage interval reveals FLVCR2 deletions and mutations in lethal cerebral vasculopathy

G. Gyapay, A. Munnich, A. Laquérriere, 2010, Human mutation.

Features of DiGeorge syndrome and CHARGE association in five patients.

A. Munnich, S. Lyonnet, M. Vekemans, 1997, Journal of medical genetics.

Interstitial duplication oftheshort armof chromosome 2:report ofanewcaseandreview

A. Mégarbané, M. Vekemans, D. Theophile, 1997 .

Nucleus basalis magnocellularis and hippocampus are the major sites of FMR-1 expression in the human fetal brain

J. Mallet, M. Vekemans, M. Abitbol, 1993, Nature Genetics.

Mutational, functional, and expression studies of the TCF4 gene in Pitt‐Hopkins syndrome

A. Munnich, C. Picard, N. Boddaert, 2009, Human mutation.

The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome

Colin A. Johnson, Nathalie Boddaert, Sophie Saunier, 2007, Nature Genetics.

Refinement of 2q and 7p loci in a large multiplex NTD family.

J. Gilbert, D. Stephan, J. Connelly, 2008, Birth defects research. Part A, Clinical and molecular teratology.

Possible new variant of Nijmegen breakage syndrome.

A. Elliott, M. Vekemans, A. Auerbach, 1996, American journal of medical genetics.

Prenatal detection of a 1p36 deletion in a fetus with multiple malformations and a review of the literature

A. Munnich, L. Faivre, M. Vekemans, 1999, Prenatal diagnosis.

Whole-exome sequence analysis highlights the role of unmasked recessive mutations in copy number variants with incomplete penetrance

C. Bole-Feysot, P. Nitschké, M. Vekemans, 2018, European Journal of Human Genetics.

Pleiotropic effects of CEP290 (NPHP6) mutations extend to Meckel syndrome.

Colin A. Johnson, A. Munnich, E. Génin, 2007, American journal of human genetics.

OFD1 mutations in males: phenotypic spectrum and ciliary basal body docking impairment

A. Munnich, N. Boddaert, R. Touraine, 2013, Clinical genetics.

CLMP is required for intestinal development, and loss-of-function mutations cause congenital short-bowel syndrome.

D. Tibboel, R. Hofstra, G. T. te Meerman, 2012, Gastroenterology.

Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes

Colin A. Johnson, K. Cibulskis, S. Gabriel, 2010, Nature Genetics.

The Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert syndrome.

Colin A. Johnson, A. Munnich, N. Boddaert, 2007, American journal of human genetics.

Interstitial tandem direct duplication of the long arm of chromosome 4 (q23-q27) and possible assignment of the structural gene encoding human aspartylglucosaminidase to this segment.

D. Chitayat, M. Vekemans, F. Halal, 1991, American journal of medical genetics.

Genotype–phenotype correlation of 30 patients with Smith-Magenis syndrome (SMS) using comparative genome hybridisation array: cleft palate in SMS is associated with larger deletions

S. Lyonnet, M. Vekemans, J. Andrieux, 2007, Journal of Medical Genetics.

deletionspalate in SMS is associated with larger CGH-array: Smith-Magenis Syndrome patients using Genotype-phenotype correlation of 30

S. Lyonnet, M. Vekemans, B. Delobel, 2007 .

The oral-facial-digital syndrome gene C2CD3 encodes a positive regulator of centriole elongation

A. Munnich, J. García-Verdugo, A. Mégarbané, 2014, Nature Genetics.

[Ten years' experience of preimplantation genetic diagnosis in Paris: remaining obstacles and potential solutions].

A. Munnich, R. Fanchin, P. Burlet, 2011, Bulletin de l'Academie nationale de medecine.

In utero ultrasound diagnosis of corpus callosum agenesis leading to the identification of orofaciodigital type 1 syndrome in female fetuses

P. Sonigo, M. Gonzalès, L. Faivre, 2018, Birth defects research.

Polyalanine expansions might not result from unequal crossing‐over

A. Munnich, S. Lyonnet, M. Vekemans, 2007, Human Mutation.

Spectrum of MKS1 and MKS3 mutations in Meckel syndrome: a genotype‐phenotype correlation

Colin A. Johnson, Arnold Munnich, Fiona Macdonald, 2007, Human mutation.

Diagnosis of chromosome 3 duplication q23----qter, deletion p25----pter in a patient with the C (trigonocephaly) syndrome.

P. Kaplan, M. Vekemans, M. Preus, 1986, American journal of medical genetics.

First specific preimplantation genetic diagnosis for ornithine transcarbamylase deficiency

A. Munnich, N. Frydman, R. Frydman, 2000, Prenatal diagnosis.

Fetal Intestinal Obstruction Induces Alteration of Enteric Nervous System Development in Human Intestinal Atresia

N. Brousse, P. Landais, S. Sarnacki, 2004, Pediatric Research.

Cerebellar ataxia and mental retardation in a child with an inherited satellited chromosome 4q.

A. Munnich, L. Faivre, M. Vekemans, 2000, Annales de genetique.

Genetic divergence between mouse and humans: a useful direction for gene pathway analysis.

M. Vekemans, C. Ottolenghi, 1998, Teratology.

Prenatal diagnosis and molecular characterization of an interstitial 1q24.2q25.2 deletion.

M. Vekemans, J. Martinovic, C. Turleau, 2006, European journal of medical genetics.

A practical approach to the examination of the malformed fetal brain: impact on genetic counselling

A. Laquérriere, M. Gonzalès, M. Vekemans, 2008, Pathology.

Ebstein anomaly associated with rearrangements of chromosomal region 11q.

A. Munnich, S. Lyonnet, M. Vekemans, 1998, American journal of medical genetics.

Monozygotic twins discordant for submicroscopic chromosomal anomalies in 2p25.3 region detected by array CGH

A. Munnich, A. Bernheim, M. Vekemans, 2013, Clinical genetics.

FISH detection of chromosome 14q32/IgH translocations: evaluation in follicular lymphoma

E. Macintyre, M. Vekemans, I. Radford‐Weiss, 1998, British journal of haematology.

Familial interstitial Xq27.3q28 duplication encompassing the FMR1 gene but not the MECP2 gene causes a new syndromic mental retardation condition

A. Munnich, A. Toutain, M. Vekemans, 2010, European Journal of Human Genetics.

Array-based comparative genomic hybridization identifies a high frequency of copy number variations in patients with syndromic overgrowth

A. Munnich, J. Soulier, D. Lacombe, 2010, European Journal of Human Genetics.

Duplication of 9q12-q33: a case report and implications for the dup(9q) syndrome.

S. Aymé, M. Vekemans, V. D. Der Kaloustian, 1993, American journal of medical genetics.

Sotos syndrome caused by a paracentric inversion disrupting the NSD1 gene

A. Munnich, M. Vekemans, M. Prieur, 2007, Clinical genetics.

Spatio-temporal expression of FGFR 1, 2 and 3 genes during human embryo-fetal ossification

A. Munnich, J. Bonaventure, M. Vekemans, 1998, Mechanisms of Development.

Birth of healthy female twins after preimplantation genetic diagnosis of cystic fibrosis combined with gender determination.

A. Munnich, N. Frydman, R. Frydman, 2002, Molecular human reproduction.

Regional and cellular specificity of the expression of TPRD, the tetratricopeptide Down syndrome gene, during human embryonic development

J. Delabar, M. Vekemans, M. Rachidi, 2000, Mechanisms of Development.

Fusion of ZMIZ1 to ABL1 in a B-cell acute lymphoblastic leukaemia with a t(9;10)(q34;q22.3) translocation

O. Bernard, N. Mahlaoui, M. Vekemans, 2008, Leukemia.

Aniridia/glaucoma and Wilms tumor in a sibship with renal tubular acidosis and sensory nerve deafness.

P. Kaplan, M. Vekemans, B. Kaplan, 1987, American journal of medical genetics. Supplement.

PAX2 mutations in oligomeganephronia.

S. Lyonnet, M. Gubler, M. Vekemans, 2001, Kidney international.

Should PMM2-deficiency (CDG Ia) be searched in every case of unexplained hydrops fetalis?

Y. Ville, R. Bouvier, M. Vekemans, 2010, Molecular genetics and metabolism.

Effect of aneuploidy and neoplasia on human ribosomal DNA inheritance.

Golder N Wilson, M. Vekemans, J. de Chadarévian, 1987, American journal of medical genetics. Supplement.

Ring chromosome 4 in a child with duodenal atresia.

M. Vekemans, F. Halal, 1990, American journal of medical genetics.

Safety of first-trimester chorionic villi sampling.

M. Vekemans, A. Lippman, T. Perry, 1984, The New England journal of medicine.

Ring chromosome 20 and possible assignment of the structural gene encoding human carboxypeptidase-L to the distal segment of the long arm of chromosome 20.

B. Rosenblatt, D. Chitayat, M. Vekemans, 1992, American journal of medical genetics.

Clinical, genetic and neuropathological findings in a series of 138 fetuses with a corpus callosum malformation.

Y. Ville, P. Sonigo, M. Vekemans, 2016, Birth defects research. Part A, Clinical and molecular teratology.

Phocomelia, oligodactyly, and acrania: the Schinzel-Phocomelia syndrome.

D. Chitayat, M. Vekemans, H. Stalker, 1993, American journal of medical genetics.

Chromosome 7q22-q31 duplication: report of a new case and review.

A. Mégarbané, J. Loiselet, M. Vekemans, 2000, American journal of medical genetics.

Karyotypic evolution of a murine mammary adenocarcinoma in vitro and during progression from primary to metastatic growth in vivo

B. Elliott, M. Vekemans, W. Xu, 1992, Genes, chromosomes & cancer.

Syndrome of proximal interstitial deletion 4p15: report of three cases and review of the literature.

D. Chitayat, M. Vekemans, J. Posnick, 1995, American journal of medical genetics.

Malformations and minor anomalies in children whose mothers had prenatal diagnosis: comparison between CVS and amniocentesis.

Golder N Wilson, P. Kaplan, M. Vekemans, 1990, American journal of medical genetics.

Chorionic Villi Sampling: The McGill Randomized Clinical Trial of Safety and Accuracy

E. Hamilton, M. Vekemans, A. Lippman, 1985 .

Novel de novo ZBTB20 mutations in three cases with Primrose syndrome and constant corpus callosum anomalies

Y. Ville, N. Boddaert, P. Nitschké, 2018, American journal of medical genetics. Part A.

The susceptibility to cortisone-induced cleft palate of recombinant inbred strains of mice: lack of association with the H-2 haplotype.

B. Taylor, M. Vekemans, F. Fraser, 1981, Genetical research.

Noradrenergic neuronal development is impaired by mutation of the proneural HASH-1 gene in congenital central hypoventilation syndrome (Ondine's curse).

Arnold Munnich, Michel Simonneau, François Guillemot, 2003, Human molecular genetics.

PAX2 mutations in fetal renal hypodysplasia

A. Benachi, R. Salomon, C. Antignac, 2010, American journal of medical genetics. Part A.

Fluorescence in situ hybridization analysis of masked (8;21)(q22;q22) translocations.

E. Macintyre, F. Ross, C. Harrison, 1999, Cancer genetics and cytogenetics.

Reciprocal translocation in small-cell sarcomas.

M. Vekemans, T. Seemayer, J. de Chadarévian, 1984, The New England journal of medicine.

Neocortical neuronal arrangement in LIS1 and DCX lissencephaly may be different

A. Munnich, P. Sonigo, F. Brunelle, 2004, American journal of medical genetics. Part A.

Fetal mortality at the time of chorionic villi sampling

M. Vekemans, A. Lippman, T. Perry, 2004, Human Genetics.

Reply to Salviati et al.

J. Vermeesch, C. Eng, D. Stoppa-Lyonnet, 2006 .

Distal deletion of chromosome 1q in an adult.

P. Kaplan, M. Vekemans, S. Zeesman, 1990, American journal of medical genetics.

Aspects of intracranial and spinal tumors in patients with Down syndrome and report of a rapidly progressing Grade 2 astrocytoma

A. Sasco, H. Ohgaki, M. Vekemans, 2001, Cancer.

Dysembryoplastic neuroepithelial tumors in two children with neurofibromatosis type 1

M. Bourgeois, M. Vekemans, A. Lellouch‐Tubiana, 2004, Acta Neuropathologica.

Reassessment of childhood B‐lineage lymphoblastic leukemia karyotypes using spectral analysis

S. Romana, M. Vekemans, I. Radford‐Weiss, 2001, Genes, chromosomes & cancer.

PAX2 mutations in renal–coloboma syndrome: mutational hotspot and germline mosaicism

A. Munnich, R. Salomon, C. Antignac, 2000, European Journal of Human Genetics.

Unusual clinical severity of complement membrane cofactor protein-associated hemolytic-uremic syndrome and uniparental isodisomy.

W. Fridman, M. Vekemans, S. Menouer, 2007, American journal of kidney diseases : the official journal of the National Kidney Foundation.

Molecular screening of the ZFHX1B gene in prenatally diagnosed isolated agenesis of the corpus callosum

A. Munnich, S. Lyonnet, Y. Espinosa-Parrilla, 2004, Prenatal diagnosis.

[Preimplantation genetic diagnosis experience in Paris: evaluation of first births].

A. Munnich, R. Frydman, S. Romana, 2002, Journal de gynecologie, obstetrique et biologie de la reproduction.

The place of 'social sexing' in medicine and science.

A. Munnich, R. Frydman, S. Viville, 2002, Human reproduction.

A review of malignancies in fragile X syndrome and report of an Ewing sarcoma

B. Bui, D. Lacombe, M. Vekemans, 2008 .

Prezygotic origin of the isochromosome 12p in Pallister-Killian syndrome.

A. Munnich, S. Lyonnet, M. Vekemans, 1997, American journal of medical genetics.

PAX-genes expression during human embryonic development, a preliminary report.

J. Mallet, M. Vekemans, M. Gérard, 1995, Comptes rendus de l'Academie des sciences. Serie III, Sciences de la vie.

The rat phospholipase Cβ 4 gene is expressed at high abundance in cerebellar Purkinje cells

M. Vekemans, M. Gérard, J. Dufier, 1995, Neuroreport.

Genetic analysis of the maternal factors controlling the survival of trisomy 16 mouse fetuses.

M. Vekemans, S. Demczuk, 1993, Teratology.

Aminopterin-like syndrome sine aminopterin associated with translocation involving chromosomes 5 and 10.

M. Vekemans, V. D. Der Kaloustian, K. Meagher‐Villemure, 1990, American journal of medical genetics.

[A preliminary study to assess the value of the DNA chips SpectralChip to detect subtle constitutional chromosome imbalances].

A. Munnich, M. Vekemans, L. Colleaux, 2004, Annales de biologie clinique.

A neuropathological study of novel RTTN gene mutations causing a familial microcephaly with simplified gyral pattern

P. Sonigo, A. Benachi, D. Lacombe, 2018, Birth defects research.

The third editor of the Birth Defects Research Journal.

M. Vekemans, 2013, Birth defects research. Part A, Clinical and molecular teratology.

Fanconi's anemia, medulloblastoma, Wilms' tumor, horseshoe kidney, and gonadal dysgenesis.

M. Vekemans, J. de Chadarévian, M. Bernstein, 1985, Archives of pathology & laboratory medicine.

Chromosome banding studies of the osprey Pandion haliaetus (Aves, Falconiformes)

M. Vekemans, C. Kohler, Charles P. Schaadt, 1989 .

[Contribution of genetics].

A. Munnich, S. Lyonnet, M. Vekemans, 1999, Archives de pediatrie : organe officiel de la Societe francaise de pediatrie.

Risk factors for heart defects in Down syndrome.

L. Faivre, M. Vekemans, 1999, Teratology.

CGH analysis in a cohort of 17 chromosomally normal fetuses with an increased nuchal translucency

S. Romana, M. Vekemans, S. Brisset, 2003, Prenatal Diagnosis.

Chromosome 10p11.2-p12.2 duplication: report of a patient and review of the literature.

A. Mégarbané, M. Vekemans, M. Prieur, 2001, American journal of medical genetics.

Specific 1,25-Hydroxycholecalciferol Receptors and Stimulation of 25-Hydroxycholecalciferol- 24R Hydroxylase in Human Amniotic Cells

M. Vekemans, E. Delvin, A. Pilón, 1987, Pediatric Research.

Isolation by size of epithelial tumor cells : a new method for the immunomorphological and molecular characterization of circulatingtumor cells.

K. Schütze, A. Sabile, C. Bréchot, 2000, The American journal of pathology.

Clinical Molecular Cytogenetics

S. Romana, M. Vekemans, 2006 .

Germline deletion of the miR-17-92 cluster causes growth and skeletal defects in humans

Joana A. Vidigal, A. Munnich, S. Lyonnet, 2011, Nature Genetics.

Neurobehavioral profile and brain imaging study of 22q13.3 deletion syndrome

A. Munnich, M. Zilbovicius, N. Boddaert, 2008 .

Genetic analysis of splenic lymphoma with villous lymphocytes: a Groupe Français d'Hématologie Cellulaire (GFHC) study

Garand, Flandrin, G. Flandrin, 1998, British journal of haematology.

β1-adrenergic antagonists improve sleep and behavioural disturbances in a circadian disorder, Smith-Magenis syndrome

A. Munnich, M. Vekemans, D. Sidi, 2001, Journal of Medical Genetics.

A chromosome marker for the early detection of mouse embryos carrying the neural tube defect mutation splotch.

M. Vekemans, D. Trasler, C. Kapron-Brás, 1986, Canadian journal of genetics and cytology. Journal canadien de génétique et de cytologie.

Significance of a (4; 11) translocation in acute lymphoblastic leukemia

M. Vekemans, T. Seemayer, M. Vekemans, 1982, Cancer.

Characterization of a region-specific library of microclones in the vicinity of the Bcg and splotch loci on mouse chromosome 1.

D. Malo, N. Bardeesy, P. Gros, 1994, Genomics.

The oral-facial-digital syndrome gene C2CD3 encodes a positive regulator of centriole elongation

A. Munnich, J. García-Verdugo, A. Mégarbané, 2014, Nature Genetics.

Deletion of the SIM1 gene (6q16.2) in a patient with a Prader-Willi-like phenotype

L. Faivre, S. Jacquemont, M. Vekemans, 2002, Journal of medical genetics.

Chapter 8. Genetics of Palate Development

M. Vekemans, F. Biddle, 1984 .

Sex selection by preimplantation genetic diagnosis: should it be carried out for social purposes?Is preimplantation genetic diagnosis for ‘social sexing’ desirable in today's and tomorrow's society?

A. Munnich, R. Frydman, S. Viville, 2003 .

Stage of palate closure as one indication of "liability" to cleft palate.

M. Vekemans, F. Fraser, 1979, American journal of medical genetics.

Prenatal diagnosis of a satellited non‐acrocentric chromosome derived from a maternal translocation (10;13)(p13;p12) and review of literature

A. Munnich, L. Faivre, M. Vekemans, 1999, Prenatal diagnosis.

Duplication of the long arm of chromosome 13 secondary to a recombination in a maternal intrachromosomal insertion (shift)

M. Vekemans, N. Morichon‐Delvallez, 1990, Prenatal diagnosis.

An infant with Down syndrome and retinoblastoma A possible non-fortuitous association

A. Sasco, L. Desjardins, M. Vekemans, 2001, Ophthalmic Genetics.

Germline deletion of the miR-17-92 cluster causes growth and skeletal defects in humans

Joana A. Vidigal, A. Munnich, S. Lyonnet, 2011, Nature genetics.