C. Baumann

发表

Genotype determination at the survival motor neuron locus in a normal population and SMA carriers using competitive PCR and primer extension

G. Matthijs, B. Gérard, N. Ginet, 2000, Human mutation.

Complete loss of function of the ubiquitin ligase HERC2 causes a severe neurodevelopmental phenotype

C. Rooryck, D. Lacombe, C. Baumann, 2016, European Journal of Human Genetics.

Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection

C. Ponting, D. Bonthron, E. Bertini, 2006, Nature Genetics.

Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations.

A. Munnich, C. Orssaud, S. Hanein, 2012, American journal of human genetics.

ALDH1A3 mutations cause recessive anophthalmia and microphthalmia.

A. Munnich, J. Clayton-Smith, S. Hanein, 2013, American journal of human genetics.

Fifteen years of research on oral–facial–digital syndromes: from 1 to 16 causal genes

Colin A. Johnson, M. Huynen, D. Birnbaum, 2017, Journal of Medical Genetics.

Large national series of patients with Xq28 duplication involving MECP2: Delineation of brain MRI abnormalities in 30 affected patients

S. Julia, R. Touraine, A. Afenjar, 2016, American journal of medical genetics. Part A.

Mosaicism for oncogenic G12D KRAS mutation associated with epidermal nevus, polycystic kidneys and rhabdomyosarcoma

O. Delattre, F. Radvanyi, C. Baumann, 2010, Journal of Medical Genetics.

Mutations in the PTPN11 Gene The Spectrum of Cardiac Anomalies in Noonan Syndrome as a Result of

H. Cavé, A. Verloes, C. Baumann, 2013 .

The Spectrum of Cardiac Anomalies in Noonan Syndrome as a Result of Mutations in the PTPN11 Gene

H. Cavé, A. Verloes, C. Baumann, 2007, Pediatrics.

A large-scale mutation search reveals genetic heterogeneity in 3M syndrome

D. Sillence, A. Munnich, J. Melki, 2009, European Journal of Human Genetics.

EFTUD2 haploinsufficiency leads to syndromic oesophageal atresia

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

Malformations, genetic abnormalities, and wilms tumor

H. Brisse, D. Stoppa-Lyonnet, C. Baumann, 2014, Pediatric blood & cancer.

Prenatally diagnosed periventricular nodular heterotopia: Further delineation of the imaging phenotype and outcome.

Y. Ville, D. Lev, N. Boddaert, 2018, European journal of medical genetics.

Identification of 23 TGFBR2 and 6 TGFBR1 gene mutations and genotype‐phenotype investigations in 457 patients with Marfan syndrome type I and II, Loeys‐Dietz syndrome and related disorders

C. Junien, G. Jondeau, M. Claustres, 2008, Human mutation.

A locus for sacral/anorectal malformations maps to 6q25.3 in a 0.3 Mb interval region

M. Elmaleh, A. Verloes, C. Baumann, 2006, European Journal of 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.

Incomplete penetrance and phenotypic variability of 6q16 deletions including SIM1

M. Holder-Espinasse, A. Verloes, M. Carella, 2014, European Journal of Human Genetics.

GJB2 and GJB6 mutations: genotypic and phenotypic correlations in a large cohort of hearing-impaired patients.

C. Petit, F. Denoyelle, V. Drouin‐Garraud, 2005, Archives of otolaryngology--head & neck surgery.

Phenotypical, biological, and molecular heterogeneity of 5α-reductase deficiency: an extensive international experience of 55 patients.

M. Polak, A. Grüters, Z. Hochberg, 2011, The Journal of clinical endocrinology and metabolism.

Prevalence analysis of smoking in rosacea

C. Baumann, A. Barbaud, J. Schmutz, 2011, Journal of the European Academy of Dermatology and Venereology : JEADV.

Three patients with hallucal polydactyly and WAGR syndrome, including discordant expression of Wilms tumor in MZ twins

J. Crolla, A. Verloes, C. Baumann, 2005, American journal of medical genetics. Part A.

Molecular analysis of pericentrin gene (PCNT) in a series of 24 Seckel/microcephalic osteodysplastic primordial dwarfism type II (MOPD II) families

A. Munnich, C. Farra, A. Verloes, 2009, Journal of Medical Genetics.

Molecular analysis of Pericentrin gene (PCNT) in a series of 24 Seckel/ MOPD II families

A. Munnich, C. Farra, A. Verloes, 2009 .

High Proportion of Pituitary Abnormalities and Other Congenital Defects in Children with Congenital Nasal Pyriform Aperture Stenosis

C. Garel, P. Czernichow, C. Baumann, 2006, Pediatric Research.

New management strategy of pregnancies at risk of congenital adrenal hyperplasia using fetal sex determination in maternal serum: French cohort of 258 cases (2002-2011).

N. Philip, C. Baumann, S. Odent, 2014, The Journal of clinical endocrinology and metabolism.

Should chromosome breakage studies be performed in patients with VACTERL association?

C. Mathew, G. Pals, D. Stoppa-Lyonnet, 2005, American journal of medical genetics. Part A.

Further delineation of the congenital form of X-linked dyskeratosis congenita (Hoyeraal-Hreidarsson syndrome)

A. Verloes, D. Lacombe, C. Baumann, 2003, European Journal of Pediatrics.

Beckwith–Wiedemann syndrome and long QT syndrome due to familial‐balanced translocation t(11;17)(p15.5;q21.3) involving the KCNQ1 gene

A. Verloes, C. Baumann, I. Denjoy, 2013, Clinical genetics.

Additional clinical and molecular analyses of TFAP2A in patients with the Branchio‐Oculo‐Facial syndrome: Previously reported patient

S. Lyonnet, C. Baumann, Y. Sznajer, 2010, American journal of medical genetics. Part A.

Medullary thyroid carcinoma identified within the first year of life in children with hereditary multiple endocrine neoplasia type 2A (codon 634) and 2B.

J. Hugot, M. Schlumberger, P. Guillausseau, 2009, European journal of endocrinology.

Molecular and clinical delineation of 2p15p16.1 microdeletion syndrome

A. Verloes, C. Baumann, J. Dupont, 2017, American journal of medical genetics. Part A.

Spectrum of mutations in the renin–angiotensin system genes in autosomal recessive renal tubular dysgenesis

R. Deberardinis, H. Firth, J. Tolmie, 2012, Human mutation.

Identification of 23 TGFBR 2 and 6 TGFBR 1 gene mutations and genotype-phenotype investigations in 457 patients with Marfan syndrome type I and II , Loeys-Dietz syndrome and related disorders

C. Junien, G. Jondeau, M. Claustres, 2019 .

Duplication of 10q24 locus: broadening the clinical and radiological spectrum

J. Hurst, C. Farra, A. Toutain, 2019, European Journal of Human Genetics.

New insights into genotype–phenotype correlation for GLI3 mutations

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

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

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

Dermatological manifestations in Noonan syndrome: a prospective multicentric study of 129 patients positive for mutation

H. Cavé, N. Philip, C. Chiaverini, 2019, The British journal of dermatology.

Prenatal Marfan syndrome: report of one case and review of the literature

D. Luton, C. Baumann, A. Delezoide, 2006, Prenatal diagnosis.

COL2A1 gene disruption by a balanced translocation t(12;15)(q13;q22.2) in familial stickler syndrome

C. Baumann, A. Aboura, B. Benzacken, 2013, American journal of medical genetics. Part A.

SOX10 mutations in chronic intestinal pseudo-obstruction suggest a complex physiopathological mechanism

I. Verma, C. Baumann, M. Goossens, 2002, Human Genetics.

Spectrum of Temporal Bone Abnormalities in Patients with Waardenburg Syndrome and SOX10 Mutations

K. Devriendt, G. Sebag, C. Baumann, 2013, American Journal of Neuroradiology.

[Congenital generalized cutis laxa: 5 cases].

M. Rybojad, P. Morel, C. Baumann, 1999, Annales de dermatologie et de venereologie.

Dermatological manifestations in cardiofaciocutaneous syndrome: a prospective multicentric study of 45 mutation‐positive patients

H. Cavé, N. Philip, C. Chiaverini, 2018, The British journal of dermatology.

Myasthenia gravis with polyhydramnios in the fetus of an asymptomatic mother

C. Baumann, F. Woimant, L. Mandelbrot, 1993, Prenatal diagnosis.

Combination of WAGR and Potocki–Shaffer contiguous deletion syndromes in a patient with an 11p11.2–p14 deletion

J. Crolla, A. Verloes, D. Lacombe, 2005, European Journal of Human Genetics.

Unilateral agenesis of the abdominal wall musculature: An early muscle deficiency

A. Verloes, C. Baumann, M. Gerard-Blanluet, 2010, American journal of medical genetics. Part A.

Isolated pericardial effusion in the human fetus: a report of three cases

D. Luton, J. Oury, G. Sebag, 2003, Prenatal diagnosis.

A Long-term Competent Chimeric Immune System in a Dizygotic Dichorionic Twin

V. Biran, O. Baud, A. Verloes, 2011, Pediatrics.

Twin A Long-term Competent Chimeric Immune System in a Dizygotic Dichorionic

C. Baumann, A. Aboura, S. Drunat, 2011 .

Diagnostic strategy in segmentation defect of the vertebrae: a retrospective study of 73 patients

S. Julia, J. Rivière, A. Verloes, 2018, Journal of Medical Genetics.

Autistic Disorder in Patients with Williams-Beuren Syndrome: A Reconsideration of the Williams-Beuren Syndrome Phenotype

A. Toutain, D. Cohen, A. Verloes, 2012, PloS one.

Specific Genetic Disorders and Autism: Clinical Contribution Towards their Identification

Alain Verloes, David Cohen, D. Cohen, 2005, Journal of autism and developmental disorders.

Ten new cases further delineate the syndromic intellectual disability phenotype caused by mutations in DYRK1A

R. Stevenson, M. Lyons, J. Mandel, 2015, European Journal of Human Genetics.

Mutations in RIT1 cause Noonan syndrome with possible juvenile myelomonocytic leukemia but are not involved in acute lymphoblastic leukemia

H. Cavé, A. Toutain, V. Drouin‐Garraud, 2016, European Journal of Human Genetics.

Growth charts in Kabuki syndrome 1

A. Toutain, N. Philip, B. Gilbert-Dussardier, 2019, American Journal of Medical Genetics. Part A.

Further delineation of Kabuki syndrome in 48 well‐defined new individuals

Marc S. Williams, E. Zackai, R. Hennekam, 2005, American journal of medical genetics. Part A.

Duplication of the 15q11-q13 region: clinical and genetic study of 30 new cases.

S. Auvin, A. Verloes, C. Baumann, 2014, European journal of medical genetics.

Novel and recurrent non-truncating mutations of the MITF basic domain: genotypic and phenotypic variations in Waardenburg and Tietz syndromes

V. Drouin‐Garraud, H. Dollfus, C. Baumann, 2012, European Journal of Human Genetics.

domain: genotypic and phenotypic variations in Waardenburg and 2

Annick, V. Drouin‐Garraud, H. Dollfus, 2012 .

Mutational Spectrum in Holoprosencephaly Shows That FGF is a New Major Signaling Pathway

A. Toutain, N. Chassaing, W. Carré, 2016, Human mutation.

Cardio-facio-cutaneous and Noonan syndromes due to mutations in the RAS/MAPK signalling pathway: genotype–phenotype relationships and overlap with Costello syndrome

Yoichi Matsubara, Alain Verloes, Alice Goldenberg, 2007, Journal of Medical Genetics.

PTPN11 mutations in patients with LEOPARD syndrome: a French multicentric experience

G Mortier, G. Mortier, H. Cavé, 2004, Journal of Medical Genetics.

Additional clinical and molecular analyses of TFAP2A in patients with the branchio‐oculo‐facial syndrome

S. Lyonnet, C. Baumann, Y. Sznajer, 2010, American journal of medical genetics. Part A.

Juvenile myelomonocytic leukaemia and Noonan syndrome

Corinne Alberti, Alain Verloes, Christine Chomienne, 2014, Journal of Medical Genetics.

[Diagnostic investigations for an unexplained developmental disability].

A. Afenjar, A. Verloes, C. Baumann, 2012, Archives de pediatrie : organe officiel de la Societe francaise de pediatrie.

Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome

R. Hennekam, H. Cavé, D. Wieczorek, 2006, Nature Genetics.

Molecular, clinical and neuropsychological study in 31 patients with Kabuki syndrome and KMT2D mutations

N. Boddaert, A. Toutain, M. Picot, 2017, Clinical Genetics.

Heterogeneity of NSD1 alterations in 116 patients with Sotos syndrome

A. Afenjar, V. Drouin‐Garraud, T. Frebourg, 2007, Human mutation.

CHARGE syndrome: report of 47 cases and review.

J L Michel, A. Munnich, N. Philip, 1998, American journal of medical genetics.

Mutations in two regions of FLNB result in atelosteogenesis I and III

S. Robertson, D. Rimoin, J. Roume, 2006, Human mutation.

Aphallia, Lung Agenesis and Multiple Defects of Blastogenesis

A. Verloes, C. Baumann, M. Gerard-Blanluet, 2011, Fetal and pediatric pathology.

Mutations of the Imprinted CDKN1C Gene as a Cause of the Overgrowth Beckwith–Wiedemann Syndrome: Clinical Spectrum and Functional Characterization

M. Polak, A. Verloes, D. Lacombe, 2015, Human mutation.

Systematic molecular and cytogenetic screening of 100 patients with marfanoid syndromes and intellectual disability

C Binquet, A. Mégarbané, A. Toutain, 2013, Clinical genetics.

Spondylometaphyseal dysplasia, east-African type: a new form of early, severe SMD with rounded vertebrae.

A. Verloes, C. Baumann, M. Merrer, 2002, American journal of medical genetics.

Abnormal abdominal situs: what and how should we look for?

C. Garel, J. Oury, G. Sebag, 2006, Prenatal diagnosis.

A CGH study of 27 patients with CHARGE association

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

GLI3 is rarely implicated in OFD syndromes with midline abnormalities

L. Pasquier, J. Thevenon, L. Faivre, 2011, Human mutation.

Associations Among Genotype, Clinical Phenotype, and Intracellular Localization of Trafficking Proteins in ARC Syndrome

S. Watson, C. Baumann, J. Klumperman, 2012, Human mutation.

Constitutional NRAS mutations are rare among patients with Noonan syndrome or juvenile myelomonocytic leukemia

H. Cavé, A. Verloes, C. Baumann, 2012, American journal of medical genetics. Part A.

Further delineation of the MECP2 duplication syndrome phenotype in 59 French male patients, with a particular focus on morphological and neurological features

S. Julia, R. Touraine, A. Afenjar, 2018, Journal of Medical Genetics.

Severe pancreas hypoplasia and multicystic renal dysplasia in two human fetuses carrying novel HNF1beta/MODY5 mutations.

C. Baumann, M. Fabre, S. Cereghini, 2006, Human molecular genetics.

A series of 38 novel germline and somatic mutations of NIPBL in Cornelia de Lange syndrome

L. Pasquier, L. Faivre, S. Blesson, 2016, Clinical genetics.

Increased paternal age in CHARGE association

A. Munnich, N. Philip, D. Lacombe, 1996, Clinical genetics.

Familial CHARGE syndrome because of CHD7 mutation: clinical intra‐ and interfamilial variability

A. Verloes, S. Lyonnet, C. Baumann, 2007, Clinical genetics.

Brachytelephalangic chondrodysplasia punctata with severe spinal cord compression: report of four new cases

C. Garel, C. Baumann, G. Parenti, 2007, European Journal of Pediatrics.

ACTG2 variants impair actin polymerization in sporadic Megacystis Microcolon Intestinal Hypoperistalsis Syndrome.

N. Galjart, D. Tibboel, R. Hofstra, 2016, Human molecular genetics.

CGH and direct diagnosis of mosaic structural chromosomal abnormalities: description of a mosaic ring chromosome 17 and review of the literature

A. Verloes, C. Baumann, S. Chantot-Bastaraud, 2003, European Journal of Human Genetics.

Epistasis between RET and BBS mutations modulates enteric innervation and causes syndromic Hirschsprung disease

Seneca L. Bessling, A. McCallion, A. Munnich, 2009, Proceedings of the National Academy of Sciences.

Ultrasound detection of hyaloid artery in the third trimester of pregnancy: a pathological finding

J. Oury, C. Baumann, C. Dupont, 2012, Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology.

Binder phenotype: clinical and etiological heterogeneity of the so‐called Binder maxillonasal dysplasia in prenatally diagnosed cases, and review of the literature

R. Touraine, A. Verloes, M. Vazquez, 2009, Prenatal diagnosis.

Acromicric dysplasia: long term outcome and evidence of autosomal dominant inheritance

E. Zackai, A. Munnich, M. Polak, 2001, Journal of medical genetics.

A novel form of syndromic cutis laxa with facial dysmorphism, cleft palate, and mental retardation

C. Bodemer, A. Munnich, A. Verloes, 2004, Journal of Medical Genetics.

Molecular and clinical heterogeneity in CLCN7‐dependent osteopetrosis: report of 20 novel mutations

E. Lanino, I. Tezcan, S. Phadke, 2010, Human mutation.

Duane anomaly, congenital myopathy and severe scoliosis in sibs: new AR syndrome?

A. Verloes, C. Baumann, P. Gillet, 2003, Annales de genetique.

Early diagnosis of Maroteaux-Lamy syndrome in two patients with accelerated growth and advanced bone maturation

J. Harpey, C. Baumann, D. Heron, 2004, European Journal of Pediatrics.

Clinical and molecular spectrum of renal malformations in Kabuki syndrome.

A. Toutain, N. Philip, R. Salomon, 2013, The Journal of pediatrics.

Carbohydrate-deficient glycoprotein syndrome type I: a new cause of dysostosis multiplex

C. Garel, M. Hassan, C. Baumann, 1998, Skeletal Radiology.

Finger creases lend a hand in Kabuki syndrome.

A. Toutain, N. Philip, B. Gilbert-Dussardier, 2013, European journal of medical genetics.

In-frame mutations in exon 1 of SKI cause dominant Shprintzen-Goldberg syndrome.

P. Robinson, E. Arbustini, C. Béroud, 2012, American journal of human genetics.

Partial trisomy of chromosome 22 resulting from a supernumerary marker chromosome 22 in a child with features of cat eye syndrome

A. Verloes, C. Baumann, M. Gerard-Blanluet, 2008, American journal of medical genetics. Part A.

Michels syndrome, Carnevale syndrome, OSA syndrome, and Malpuech syndrome: Variable expression of a single disorder (3MC syndrome)?

A. Verloes, C. Baumann, L. Titomanlio, 2005, American journal of medical genetics. Part A.

[Long-term follow-up of children with increased nuchal translucency and normal karyotype].

J. Oury, C. Baumann, E. Vuillard, 2005, Journal de gynecologie, obstetrique et biologie de la reproduction.

Blepharophimosis‐mental retardation (BMR) syndromes: A proposed clinical classification of the so‐called Ohdo syndrome, and delineation of two new BMR syndromes, one X‐linked and one autosomal recessive

Y. Gillerot, H. Brunner, A. Verloes, 2006, American journal of medical genetics. Part A.

Hartsfield holoprosencephaly–ectrodactyly syndrome in five male patients: Further delineation and review

G. Mortier, A. Verloes, C. Baumann, 2009, American journal of medical genetics. Part A.

Pre- and postnatal diagnosis of succinic semialdehyde dehydrogenase deficiency using enzyme and metabolite assays

K. Gibson, C. Baumann, C. Jakobs, 1994, Journal of Inherited Metabolic Disease.

Refinement of genotype‐phenotype correlation in 18 patients carrying a 1q24q25 deletion

Z. Tümer, H. Stewart, C. Ruivenkamp, 2015, American journal of medical genetics. Part A.

Mutations in CNTNAP1 and ADCY6 are responsible for severe arthrogryposis multiplex congenita with axoglial defects.

I. Gut, M. Bayés, J. Melki, 2014, Human molecular genetics.

Neuropathic visceral dysmotility, brain cysts and calcifications, facial dysmorphism and developmental delay in two sibs. A new syndrome?

M. Elmaleh, A. Verloes, C. Baumann, 2005, European journal of medical genetics.

Humero‐radial synostosis, microcephaly, short corpus callosum, and abnormal genitalia in sibs

C. Garel, J. Oury, C. Baumann, 2008, American journal of medical genetics. Part A.

Duplication of 10q24 locus: broadening the clinical and radiological spectrum

J. Hurst, C. Farra, A. Toutain, 2019, European Journal of Human Genetics.

Mowat-Wilson syndrome in a fetus with antenatal diagnosis of short corpus callosum: advocacy for standard autopsy.

J. Oury, M. Alison, C. Baumann, 2013, European journal of medical genetics.

Outcomes of Hirschsprung's disease associated with Mowat-Wilson syndrome.

C. Baumann, D. Berrebi, S. Zeidan, 2009, Journal of pediatric surgery.

Otopalatodigital spectrum disorders: refinement of the phenotypic and mutational spectrum

P. Fergelot, A. Mégarbané, N. Chassaing, 2016, Journal of Human Genetics.

[Recommendations for the medical management of aortic complications of Marfan's syndrome].

G. Jondeau, D. Lacombe, L. Faivre, 2006, Archives des maladies du coeur et des vaisseaux.

A new syndrome of congenital generalized osteosclerosis and bilateral polymicrogyria

C. Garel, J. Oury, A. Verloes, 2005, American journal of medical genetics. Part A.

Congenital muscular dystrophy phenotype with neuromuscular spindles excess in a 5-year-old girl caused by HRAS mutation

L. Servais, H. Cavé, N. Romero, 2014, Neuromuscular Disorders.

Are all Xq26.2 duplications overlapping GPC3 on array‐CGH a cause of Simpson‐Golabi‐Behmel syndrome? When do we need transcript analysis?

A. Toutain, C. Baumann, C. Dupont, 2018, Clinical genetics.

3D position of pericentromeric heterochromatin within the nucleus of a patient with ICF syndrome

C. Baumann, D. Le Tessier, C. Baumann, 2012, Clinical Genetics.

Mutations of the Imprinted CDKN1C Gene as a Cause of the Overgrowth Beckwith–Wiedemann Syndrome: Clinical Spectrum and Functional Characterization

M. Polak, A. Verloes, D. Lacombe, 2015, Human mutation.

Medullary thyroid carcinoma identified within the first year of life in children with hereditary multiple endocrine neoplasia type 2A (codon 634) and 2B.

J. Hugot, M. Schlumberger, P. Guillausseau, 2009, European journal of endocrinology.

‘Cobblestone’ papillomatous linear papules of the upper lip: a new sign of Costello syndrome

H. Cavé, C. Baumann, B. Guillot, 2013, The British journal of dermatology.

Juvenile myelomonocytic leukaemia and Noonan syndrome

A. Baruchel, H. Cavé, S. Gazal, 2014, Journal of Medical Genetics.

Identification of 23 TGFBR2 and 6 TGFBR1 gene mutations and genotype‐phenotype investigations in 457 patients with Marfan syndrome type I and II, Loeys‐Dietz syndrome and related disorders

C. Junien, G. Jondeau, M. Claustres, 2008, Human mutation.

Beckwith–Wiedemann syndrome and long QT syndrome due to familial‐balanced translocation t(11;17)(p15.5;q21.3) involving the KCNQ1 gene

A. Verloes, C. Baumann, I. Denjoy, 2013, Clinical genetics.

Nicolaides–Baraitser syndrome: confirmatory report of a syndrome with sparse hair, mental retardation, and short stature and metacarpals

A. Verloes, C. Baumann, N. Blanc, 2003, Clinical dysmorphology.

[Pregnancy outcome and infant follow-up after diagnosis of nuchal anomalies at the 1st or 2nd trimester ultrasound examination].

J. Oury, C. Baumann, E. Vuillard, 2001, Journal de gynecologie, obstetrique et biologie de la reproduction.

Prenatal findings in cardio‐facio‐cutaneous syndrome

H. Cavé, A. Toutain, N. Philip, 2016, American journal of medical genetics. Part A.

Split hand/foot malformation with long‐bone deficiency and BHLHA9 duplication: report of 13 new families

P. Jouk, B. Gilbert-Dussardier, L. Pasquier, 2014, Clinical genetics.