S. Manouvrier

发表

Large spectrum of lissencephaly and pachygyria phenotypes resulting from de novo missense mutations in tubulin alpha 1A (TUBA1A)

D. Keays, J. Flint, C. Fallet-Bianco, 2007, Human mutation.

Point mutation of the mitochondrial tRNA(Leu) gene (A 3243 G) in maternally inherited hypertrophic cardiomyopathy, diabetes mellitus, renal failure, and sensorineural deafness.

A. Munnich, A. Rötig, J. Grünfeld, 1995, Journal of medical genetics.

Evidence of constitutional MLH1 epimutation associated to transgenerational inheritance of cancer susceptibility

M. Crépin, F. Escande, M. Mathieu, 2012, Human mutation.

Clinical relevance of 8q23, 15q13 and 18q21 SNP genotyping to evaluate colorectal cancer risk

P. Laurent-Puig, J. Duffour, J. Saurin, 2015, European Journal of Human Genetics.

Heterozygous non-sense mutation of the MDR3 gene in familial intrahepatic cholestasis of pregnancy

M. Hadchouel, O. Boute, E. Jacquemin, 1999, The Lancet.

Searching for secondary findings: considering actionability and preserving the right not to know

A. Munnich, S. Julia, P. Calvas, 2019, European Journal of Human Genetics.

Identification of genetic variants associated with Huntington's disease progression: a genome-wide association study.

Enrico Amico, Philippe Allain, Mark Mühlau, 2017, The Lancet. Neurology.

Possible association between complex congenital heart defects and 11p15 hypomethylation in three patients with severe Silver–Russell syndrome

M. Irving, B. Delobel, C. Vincent‐Delorme, 2013, American journal of medical genetics. Part A.

Microdeletion at chromosome 4q21 defines a new emerging syndrome with marked growth restriction, mental retardation and absent or severely delayed speech

L. Faivre, H. Dollfus, P. Jonveaux, 2010, Journal of Medical Genetics.

WAGR syndrome and congenital hypothyroidism in a child with a Mosaic 11p13 deletion

G. Tachdjian, J. Andrieux, C. Vincent‐Delorme, 2017, American journal of medical genetics. Part A.

Alveolar capillary dysplasia: a cause of persistent pulmonary hypertension of the newborn

L. Storme, T. Rakza, P. Truffert, 2002, European Journal of Pediatrics.

BCOR analysis in patients with OFCD and Lenz microphthalmia syndromes, mental retardation with ocular anomalies, and cardiac laterality defects

L. Biesecker, J. Johnston, A. Verloes, 2009, European Journal of Human Genetics.

Turner syndrome: French National Diagnosis and Care Protocol (NDCP; National Diagnosis and Care Protocol)

P. Chanson, M. Elmaleh, A. Cohen, 2022, Orphanet Journal of Rare Diseases.

Metaphyseal chondrodysplasia with cone‐shaped epiphyses: A specific form involving the lower limbs

M. Holder, M. le Merrer, O. Boute, 2004, American journal of medical genetics. Part A.

Expanding the phenotype of IQSEC2 mutations: truncating mutations in severe intellectual disability

F. Rivier, D. Wieczorek, I. Touitou, 2013, European Journal of Human Genetics.

Low frequency of AXIN2 mutations and high frequency of MUTYH mutations in patients with multiple polyposis

F. Guillemot, J. Triboulet, S. Cattan, 2006, Human mutation.

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.

Homozygosity for a null allele of COL3A1 results in recessive Ehlers–Danlos syndrome

M. Claustres, V. Rigau, S. Manouvrier, 2009, 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.

Clinical reappraisal of SHORT syndrome with PIK3R1 mutations: toward recommendation for molecular testing and management

C. Fagour, P. Njølstad, J. Bernstein, 2016, Clinical genetics.

Aneurysm Syndromes Caused by Mutations in the TGF-β Receptor

George H. Thomas, Julie De Backer, Paul Coucke, 2006 .

Aneurysm syndromes caused by mutations in the TGF-beta receptor.

P. Byers, D. Milewicz, H. Dietz, 2006, The New England journal of medicine.

Abnormal distribution of CF ΔF508 allele in azoospermic men with congenital aplasia of epididymis and vas deferens

Philippe Roussel, J. Lafitte, R. Gervais, 1990, The Lancet.

Identification by array-Comparative Genomic Hybridization (array-CGH) of a large deletion of luteinizing hormone receptor gene combined with a missense mutation in a patient diagnosed with a 46,XY disorder of sex development and application to prenatal diagnosis.

J. Andrieux, J. Weill, N. Lahlou, 2011, Endocrine journal.

[Pulmonary aplasia and triphalangia of the thumb: a new association of abnormalities?].

S. Manouvrier, 1983, LARC medical.

Prenatal diagnosis of PIBIDS

D. Vinatier, F. Vasseur, M. Deminatti, 1991, Prenatal diagnosis.

Cystic fibrosis and congenital absence of the vas deferens.

J. Lafitte, R. Gervais, J. Rigot, 1991, The New England journal of medicine.

SF1 and spleen development: new heterozygous mutation, literature review and consequences for NR5A1‐mutated patient's management

P. Philibert, C. Sultan, C. Lefèvre, 2017, Clinical genetics.

Autosomal recessive disorder otospondylomegaepiphyseal dysplasia is associated with loss-of-function mutations in the COL11A2 gene.

H. Brunner, L. Ala‐Kokko, R. Pauli, 2000, American 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.

MSH2 c.1022T>C, p.Leu341Pro is a founder pathogenic variation and a major cause of Lynch syndrome in the North of France

F. Vasseur, S. Cattan, M. Buisine, 2020, Genes, chromosomes & cancer.

Refined mapping of a gene for split hand-split foot malformation (SHFM3) on chromosome 10q25.

A. Munnich, M. Gonzalès, S. Lyonnet, 1996, Journal of medical genetics.

IRF6 Screening of Syndromic and a priori Non-Syndromic Cleft Lip and Palate Patients: Identification of a New Type of Minor VWS Sign

K. Devriendt, G. Mortier, Y. Gillerot, 2010, Molecular Syndromology.

Congenital hypogonadotropic hypogonadism with split hand/foot malformation: a clinical entity with a high frequency of FGFR1 mutations

M. Hauschild, P. Bouloux, M. Polak, 2014, Genetics in Medicine.

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.

Cancer risks associated with germline mutations in MLH1, MSH2, and MSH6 genes in Lynch syndrome.

Laetitia Huiart, Dominique Leroux, Bernard Bonaïti, 2011, JAMA.

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.

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.

Screening of MAMLD1 Mutations in 70 Children with 46,XY DSD: Identification and Functional Analysis of Two New Mutations

M. Polak, G. Pinto, J. Weill, 2012, PloS one.

Brachmann-de Lange syndrome: pre- and postnatal findings.

P. Vaast, F. Puech, O. Boute, 1996, American journal of medical genetics.

The molecular mechanism underlying Roberts syndrome involves loss of ESCO2 acetyltransferase activity.

Francesca Forzano, Hui Zou, Susan Chang, 2008, Human molecular 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.

Genetic testing for hereditary cancer: Effects of alexithymia and coping strategies on variations in anxiety before and after result disclosure

Bruno Dauvier, C. Fantini-Hauwel, P. Antoine, 2011, Psychology & health.

Prenatal diagnosis of thrombocytopenia-absent radius syndrome.

D. Vinatier, O. Boute, S. Manouvrier, 1996, Fetal diagnosis and therapy.

PRENATAL DIAGNOSIS OF ROBERTS SYNDROME: TWO NEW CASES

B. Benzacken, S. Manouvrier, M. Bucourt, 1996, Prenatal diagnosis.

Treacher Collins syndrome: a clinical and molecular study based on a large series of patients

J. Laplanche, S. Julia, A. Toutain, 2015, Genetics in Medicine.

Mental health status of individuals with sexual development disorders: A review.

R. Jardri, C. Frochisse, S. Catteau-jonard, 2019, Journal of pediatric urology.

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.

Deletion of chromosome 4p detected by FISH in a girl with normal high resolution karyotype

B. Delobel, O. Boute, G. Viot, 1999, Clinical genetics.

Orodigitofacial syndromes type I and II: clinical and surgical studies.

P. Pellerin, V. Martinot, S. Manouvrier, 1994, The Cleft Palate-Craniofacial Journal.

Orodigitofacial Syndromes Type I and II: Clinical and Surgical Studies

P. Pellerin, V. Martinot, S. Manouvrier, 1994 .

Immunopathological manifestations in Kabuki syndrome: a registry study of 177 individuals

A. Munnich, S. Julia, A. Toutain, 2019, Genetics in Medicine.

Phenotypic variability in 49 cases of ESCO2 mutations, including novel missense and codon deletion in the acetyltransferase domain, correlates with ESCO2 expression and establishes the clinical criteria for Roberts syndrome

R. Hennekam, E. Jabs, J. Hurst, 2009, Journal of Medical Genetics.

Myhre syndrome: new reports, review, and differential diagnosis

A. Verloes, J. Bourguignon, V. Cormier-Daire, 2003, Journal of medical genetics.

Confirmation that RIPK4 mutations cause not only Bartsocas‐Papas syndrome but also CHAND syndrome

R. Touraine, N. Philip, M. Jeraiby, 2017, American journal of medical genetics. Part A.

Associations between cognitive performance and the rehabilitation, medical care and social support provided to French children with Prader-Willi syndrome.

N. Philip, A. Verloes, C. Lejeune, 2020, European journal of medical genetics.

A familial syndromal form of omphalocele.

A. Verloes, B. Gérard, F. Escande, 2011, European journal of medical genetics.

Trisomy 16q23→qter arising from a maternal t(13;16)(p12;q23): case report and evidence of the reciprocal balanced maternal rearrangement by the Ag-NOR technique

F. Vasseur, O. Lemaire, M. Deminatti, 1991, Human Genetics.

Split hand/foot malformation with long bone deficiency associated with BHLHA9 gene duplication: a case report and review of literature

V. Dissanayake, F. Escande, F. Petit, 2019, BMC Medical Genetics.

First‐trimester prenatal exclusion of PIBIDS syndrome with normal DNA excision repair on chorionic villus cells

D. Vinatier, F. Vasseur, S. Manouvrier, 1992, Prenatal diagnosis.

10 years of CEMARA database in the AnDDI-Rares network: a unique resource facilitating research and epidemiology in developmental disorders in France

J. Melki, A. Toutain, A. Verloes, 2021, Orphanet Journal of Rare Diseases.

Dyssegmental dysplasia with glaucoma.

J. Bonaventure, M. le Merrer, P. Maroteaux, 1996, American journal of medical genetics.

[Fatal neonatal respiratory distress in Niemann-Pick C2 and prenatal diagnosis with mutations in gene HE1/NPC2].

F. Gottrand, G. Millat, M. Vanier, 2005, Archives de pediatrie : organe officiel de la Societe francaise de pediatrie.

Identification of novel L1CAM mutations using fluorescence‐assisted mismatch analysis

A. Munnich, N. Philip, N. Le Meur, 1998, Human mutation.

Congenital upper limb malformations : pictorial review

J. Budzik, N. Boutry, M. Cagneaux, 2011 .

New autosomal recessive syndrome of severe microcephaly and skeletal anomalies including posterior rib-gap defects.

O. Boute, L. Devisme, S. Manouvrier, 1998, American journal of medical genetics.

[Stickler's syndrome or hereditary progressive arthro-ophthalmopathy].

A. de la Chapelle, J. Dubos, S. Manouvrier, 1988, Pediatrie.

Searching for secondary findings: considering actionability and preserving the right not to know

A. Munnich, S. Julia, P. Calvas, 2019, European Journal of Human Genetics.

Cost of exome analysis in patients with intellectual disability: a micro-costing study in a French setting

A. Toutain, N. Philip, P. Jouk, 2023, BMC Health Services Research.

Mandibular‐pelvic‐patellar syndrome is a novel PITX1‐related disorder due to alteration of PITX1 transactivation ability

J. Thevenon, L. Faivre, F. Escande, 2020, Human mutation.

[Trisomy 18: ultrasound aspects. Report of 40 cases].

D. Subtil, P. Vaast, F. Puech, 2000, Presse medicale.

Endoscopie et génétique: polyposes-cancer

T. Lecomte, S. Manouvrier, 2004, Acta Endoscopica.

High frequency of T9 and CFTR mutations in children with idiopathic bronchiectasis

A. Verloes, V. Cormier-Daire, J. Carel, 2003, Journal of medical 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.

BCOR analysis in patients with OFCD and Lenz microphthalmia syndromes, mental retardation with ocular anomalies, and cardiac laterality defects

L. Biesecker, J. Johnston, A. Verloes, 2009, European Journal of Human Genetics.

Possible association between complex congenital heart defects and 11p15 hypomethylation in three patients with severe Silver–Russell syndrome

M. Irving, B. Delobel, C. Vincent‐Delorme, 2013, American Journal of Medical Genetics. Part A.