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Craniofacial anomalies and malformations in respiratory chain deficiency

V. Cormier-Daire, P. Rustin, A. Rötig, D. Chrétien, M. Le Merrer, D. Belli, A. Le Goff, P. Hubert, C. Ricour, A. Munnich,

American Journal of Medical Genetics Volume 66, Issue 4
First published: 30 December 1996

Abstract
Research Article
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CHARGE syndrome: Report of 47 cases and review

A.L. Tellier, V. Cormier-Daire, V. Abadie, J. Amiel, S. Sigaudy, D. Bonnet, P. de Lonlay-Debeney, M.P. Morrisseau-Durand, P. Hubert, J.L. Michel, D. Jan, H. Dollfus, C. Baumann, P. Labrune, D. Lacombe, N. Philip, M. LeMerrer, M.L. Briard, A. Munnich, S. Lyonnet,

American Journal of Medical Genetics Volume 76, Issue 5
First published: 06 January 1999

Abstract
Research Article
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Clinical homogeneity of the Stüve-Wiedemann syndrome and overlap with the Schwartz-Jampel syndrome type 2

V. Cormier-Daire, A. Superti-Furga, A. Munnich, S. Lyonnet, P. Rustin, A.L. Delezoide, P. De Lonlay, A. Giedion, P. Maroteaux, M. Le Merrer,

American Journal of Medical Genetics Volume 78, Issue 2
First published: 06 December 1998

Abstract
Research Article
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Mazabraud syndrome in two patients: Clinical overlap with McCune-Albright syndrome

L. Faivre, A. Nivelon-Chevallier, M.L. Kottler, C. Robinet, P. Khau Van Kien, B. Lorcerie, A. Munnich, P. Maroteaux, V. Cormier-Daire, M. LeMerrer,

American Journal of Medical Genetics ,
First published: 22 January 2001

Abstract
Research Letter
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Septo-optic dysplasia and digital anomalies: Another observation

L. Faivre, J. Amiel, M. Ouachée-Chardin, D. Geneviève, A. Munnich, V. Cormier-Daire, F. Monceaux, D. Teillac,

American Journal of Medical Genetics Volume 108, Issue 3
First published: 04 February 2002
Research Article
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Clinical and genetic heterogeneity of Seckel syndrome

L. Faivre, M. Le Merrer, S. Lyonnet, H. Plauchu, N. Dagoneau, A.B. Campos-Xavier, J. Attia-Sobol, A. Verloes, A. Munnich, V. Cormier-Daire,

American Journal of Medical Genetics Volume 112, Issue 4
First published: 09 July 2002

Abstract
Brief Clinical Report
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Upper limb malformations in DiGeorge syndrome

V. Cormier-Daire, L. Iserin, D. Théophile, D. Sidi, C. Vervel, J. P. Padovani, M. Vekemans, A. Munnich, S. Lyonnet,

American Journal of Medical Genetics Volume 56, Issue 1
First published: 13 March 1995

Abstract
Brief Clinical Report
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Craniosynostosis and kidney malformation in a case of Hennekam syndrome

V. Cormier-Daire, S. Lyonnet, A. Lehnert, D. Martin, R. Salomon, N. Patey, M. Broyer, C. Ricour, A. Munnich,

American Journal of Medical Genetics Volume 57, Issue 1
First published: 22 May 1995

Abstract
Clinical Report
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Mild phenotype in a 15-year-old boy with Pallister–Killian syndrome

D. Genevieve, V. Cormier-Daire, D. Sanlaville, L. Faivre, P. Gosset, L. Allart, M. Picq, A. Munnich, S. Romana, Mc. de Blois, M. Vekemans,

American Journal of Medical Genetics Part A Volume 116A, Issue 1
First published: 30 August 2002

Abstract
Clinical Report
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Atypical findings in Kabuki syndrome: Report of 8 patients in a series of 20 and review of the literature

D. Geneviève, J. Amiel, G. Viot, M. Le Merrer, D. Sanlaville, A. Urtizberea, M. Gérard, A. Munnich, V. Cormier-Daire, Stanislas Lyonnet,

American Journal of Medical Genetics Part A Volume 129A, Issue 1
First published: 15 July 2004

Abstract
Research Letter
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Long-term follow-up in a patient with metatropic dysplasia

D. Geneviève, M. Le Merrer, A. Munnich, P. Maroteaux, V. Cormier-Daire,

American Journal of Medical Genetics Part A Volume 135A, Issue 3
First published: 11 May 2005
Research Article
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Revisiting metatropic dysplasia: Presentation of a series of 19 novel patients and review of the literature ^†

D. Geneviève, M. Le Merrer, J. Feingold, A. Munnich, P. Maroteaux, V. Cormier-Daire,

American Journal of Medical Genetics Part A Volume 146A, Issue 8
First published: 17 March 2008

Abstract
Clinical Report
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Autosomal dominant spondylocarpotarsal synostosis syndrome: Phenotypic homogeneity and genetic heterogeneity ^†

B. Isidor, V. Cormier-Daire, M. Le Merrer, T. Lefrancois, A. Hamel, C. Le Caignec, A. David, S. Jacquemont,

American Journal of Medical Genetics Part A Volume 146A, Issue 12
First published: 09 May 2008

Abstract
Mutation Update
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Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome ^†

V. Laugel, C. Dalloz, M. Durand, F. Sauvanaud, U. Kristensen, M.C. Vincent, L. Pasquier, S. Odent, V. Cormier-Daire, B. Gener, E.S. Tobias, J.L. Tolmie, D. Martin-Coignard, V. Drouin-Garraud, D. Heron, H. Journel, E. Raffo, J. Vigneron, S. Lyonnet, V. Murday, D. Gubser-Mercati, B. Funalot, L. Brueton, J. Sanchez del Pozo, E. Muñoz, A.R. Gennery, M. Salih, M. Noruzinia, K. Prescott, L. Ramos, Z. Stark, K. Fieggen, B. Chabrol, P. Sarda, P. Edery, A. Bloch-Zupan, H. Fawcett, D. Pham, J.M. Egly, A.R. Lehmann, A. Sarasin, H. Dollfus,

Human Mutation Volume 31, Issue 2
First published: 05 November 2009

Abstract
Short Communication
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Gorlin syndrome presenting as prenatal chylothorax in a girl

D. Geneviève, E. Walter, P. Gorry, M. L. Jacquemont, L. Dupic, V. Layet, A. Munnich, V. Cormier-Daire, M. Dommergues, S. Lyonnet, D. Mitanchez,

Prenatal Diagnosis Volume 25, Issue 11
First published: 17 October 2005

Abstract
Original Paper
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Three-dimensional helical computed tomography in prenatal diagnosis of fetal skeletal dysplasia

G. Macé, P. Sonigo, V. Cormier-Daire, M.-C. Aubry, J. Martinovic, C. Elie, M. Gonzales, B. Carbonne, Y. Dumez, M. Le Merrer, F. Brunelle, A. Benachi,

Ultrasound in Obstetrics & Gynecology Volume 42, Issue 2
First published: 03 September 2012

Abstract
Article

no

Diffuse leukodystrophy in an infant with cytochrome-c oxidase deficiency

J-P. Harpey, D. Heron, M. Prudent, C. Charpentier, P. Rustin, G. Ponsot, V. Cormier-Daire,

Journal of Inherited Metabolic Disease Volume 21, Issue 7
First published: 01 October 1998

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

P Callier, B Aral, N Hanna, S Lambert, H Dindy, C Ragon, M Payet, G Collod-Beroud, V Carmignac, MA Delrue, C Goizet, N Philip, T Busa, Y Dulac, I Missotte, Y Sznajer, A Toutain, C Francannet, A Megarbane, S Julia, T Edouard, P Sarda, J Amiel, S Lyonnet, V Cormier-Daire, B Gilbert, A Jacquette, D Heron, P Collignon, D Lacombe, F Morice-Picard, PS Jouk, V Cusin, M Willems, E Sarrazin, K Amarof, C Coubes, MC Addor, H Journel, E Colin, P Khau Van Kien, C Baumann, B Leheup, D Martin- Coignard, M Doco-Fenzy, A Goldenberg, G Plessis, J Thevenon, L Pasquier, S Odent, P Vabres, F Huet, N Marle, AL Mosca- Boidron, F Mugneret, S Gauthier, C Binquet, C Thauvin-Robinet, G Jondeau, C Boileau, L Faivre,

Clinical Genetics Volume 84, Issue 6
First published: 18 March 2013

Abstract
SHORT REPORT
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Search for ReCQL4 mutations in 39 patients genotyped for suspected Rothmund–Thomson/Baller-Gerold syndromes

J. Piard, B. Aral, P. Vabres, M. Holder-Espinasse, A. Mégarbané, S. Gauthier, V. Capra, G. Pierquin, P. Callier, C. Baumann, L. Pasquier, G. Baujat, L. Martorell, A. Rodriguez, A. F. Brady, F. Boralevi, M. A. González-Enseñat, M. Rio, C. Bodemer, N. Philip, M.-P. Cordier, A. Goldenberg, B. Demeer, M. Wright, E. Blair, E. Puzenat, P. Parent, Y. Sznajer, C. Francannet, N. DiDonato, O. Boute, V. Barlogis, O. Moldovan, D. Bessis, C. Coubes, M. Tardieu, V. Cormier-Daire, A. B. Sousa, J. Franques, A. Toutain, M. Tajir, S. C. Elalaoui, D. Geneviève, J. Thevenon, J.-B. Courcet, J.-B. Rivière, C. Collet, N. Gigot, L. Faivre, C. Thauvin-Robinet,

Clinical Genetics Volume 87, Issue 3
First published: 14 February 2014

Abstract
REVIEW
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Myhre syndrome

C. Le Goff, C. Michot, V. Cormier-Daire,

Clinical Genetics Volume 85, Issue 6
First published: 01 March 2014

Abstract

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full Craniofacial anomalies and malformations in respiratory chain deficiency

full CHARGE syndrome: Report of 47 cases and review

full Clinical homogeneity of the Stüve-Wiedemann syndrome and overlap with the Schwartz-Jampel syndrome type 2

full Mazabraud syndrome in two patients: Clinical overlap with McCune-Albright syndrome

full Septo-optic dysplasia and digital anomalies: Another observation

full Clinical and genetic heterogeneity of Seckel syndrome

full Upper limb malformations in DiGeorge syndrome

full Craniosynostosis and kidney malformation in a case of Hennekam syndrome

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

full Atypical findings in Kabuki syndrome: Report of 8 patients in a series of 20 and review of the literature

full Long-term follow-up in a patient with metatropic dysplasia

full Revisiting metatropic dysplasia: Presentation of a series of 19 novel patients and review of the literature†

full Autosomal dominant spondylocarpotarsal synostosis syndrome: Phenotypic homogeneity and genetic heterogeneity†

free Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome†

full Gorlin syndrome presenting as prenatal chylothorax in a girl

free Three-dimensional helical computed tomography in prenatal diagnosis of fetal skeletal dysplasia

no Diffuse leukodystrophy in an infant with cytochrome-c oxidase deficiency

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

full Search for ReCQL4 mutations in 39 patients genotyped for suspected Rothmund–Thomson/Baller-Gerold syndromes

full Myhre syndrome

full

Craniofacial anomalies and malformations in respiratory chain deficiency

full

CHARGE syndrome: Report of 47 cases and review

full

Clinical homogeneity of the Stüve-Wiedemann syndrome and overlap with the Schwartz-Jampel syndrome type 2

full

Mazabraud syndrome in two patients: Clinical overlap with McCune-Albright syndrome

full

Septo-optic dysplasia and digital anomalies: Another observation

full

Clinical and genetic heterogeneity of Seckel syndrome

full

Upper limb malformations in DiGeorge syndrome

full

Craniosynostosis and kidney malformation in a case of Hennekam syndrome

full

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

full

Atypical findings in Kabuki syndrome: Report of 8 patients in a series of 20 and review of the literature

full

Long-term follow-up in a patient with metatropic dysplasia

full

Revisiting metatropic dysplasia: Presentation of a series of 19 novel patients and review of the literature ^†

full

Autosomal dominant spondylocarpotarsal synostosis syndrome: Phenotypic homogeneity and genetic heterogeneity ^†

free

Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome ^†

full

Gorlin syndrome presenting as prenatal chylothorax in a girl

free

Three-dimensional helical computed tomography in prenatal diagnosis of fetal skeletal dysplasia

no

Diffuse leukodystrophy in an infant with cytochrome-c oxidase deficiency

full

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

full

Search for ReCQL4 mutations in 39 patients genotyped for suspected Rothmund–Thomson/Baller-Gerold syndromes

full

Myhre syndrome