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1

Clinical variability and genetic homogeneity of the camptodactyly-arthropathy-coxa vara-pericarditis syndrome

Laurence Faivre, Anne-Marie Prieur, Martine Le Merrer, François Hayem, Clothilde Penet, Patricia Woo, Michaël Hofer, Nathalie Dagoneau, Isabelle Sermet, Arnold Munnich, Valérie Cormier-Daire

Journal:

American Journal of Medical Genetics Part A

Year:

2000

Language:

english

File:

PDF, 152 KB

english, 2000

2

Determination of enzyme activities for prenatal diagnosis of respiratory chain deficiency

Laurence Faivre, Valérie Cormier-Daire, Dominique Chrétien, Jürgen Christoph von Kleist-Retzow, Jeanne Amiel, Marc Dommergues, Jean-Marie Saudubray, Yves Dumez, Agnès Rötig, Pierre Rustin, Arnold Munn

Journal:

Prenatal Diagnosis

Year:

2000

Language:

english

File:

PDF, 66 KB

english, 2000

3

Facial appearance in persistent hyperinsulinemic hypoglycemia

Pascale de Lonlay, Valérie Cormier-Daire, Jeanne Amiel, Guy Touati, Alice Goldenberg, Jean-Christophe Fournet, Francis Brunelle, Claire Nihoul-Fékété, Jacques Rahier, Claudine Junien, Jean-Jacques Rob

Journal:

American Journal of Medical Genetics Part A

Year:

2002

Language:

english

File:

PDF, 133 KB

english, 2002

4

Antenatal manifestations of Smith-Lemli-Opitz (RSH) syndrome: A retrospective survey of 30 cases

Alice Goldenberg, Claude Wolf, Françoise Chevy, Alexandra Benachi, Yves Dumez, Arnold Munnich, Valérie Cormier-Daire

Journal:

American Journal of Medical Genetics Part A

Year:

2004

Language:

english

File:

PDF, 55 KB

english, 2004

5

Elements of morphology: Standard terminology for the nose and philtrum

Raoul C.M. Hennekam, Valerie Cormier-Daire, Judith G. Hall, Károly Méhes, Michael Patton, Roger E. Stevenson

Journal:

American Journal of Medical Genetics Part A

Year:

2009

Language:

english

File:

PDF, 885 KB

english, 2009

6

Nicolaides–Baraitser syndrome: Delineation of the phenotype

Sérgio B. Sousa, Omar A. Abdul-Rahman, Armand Bottani, Valérie Cormier-Daire, Alan Fryer, Gabriele Gillessen-Kaesbach, Denise Horn, Dragana Josifova, Alma Kuechler, Melissa Lees, Kay MacDermot, Alex M

Journal:

American Journal of Medical Genetics Part A

Year:

2009

Language:

english

File:

PDF, 439 KB

english, 2009

7

Nosology and classification of genetic skeletal disorders: 2010 revision

Matthew L. Warman, Valerie Cormier-Daire, Christine Hall, Deborah Krakow, Ralph Lachman, Martine LeMerrer, Geert Mortier, Stefan Mundlos, Gen Nishimura, David L. Rimoin, Stephen Robertson, Ravi Savari

Journal:

American Journal of Medical Genetics Part A

Year:

2011

Language:

english

File:

PDF, 180 KB

english, 2011

8

A rapid microarray based whole genome analysis for detection of uniparental disomy

Özge Altug-Teber, Andreas Dufke, Sven Poths, Ulrike Angelika Mau-Holzmann, Murat Bastepe, Laurence Colleaux, Valérie Cormier-Daire, Thomas Eggermann, Gabriele Gillessen-Kaesbach, Michael Bonin, Olaf R

Journal:

Year:

2005

Language:

english

File:

PDF, 282 KB

english, 2005

9

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

Journal:

Year:

2010

Language:

english

File:

PDF, 317 KB

english, 2010

10

Contribution of three-dimensional computed tomography in prenatal diagnosis of lethal infantile cortical hyperostosis (Caffey disease)

Véronique Darmency, Christel Thauvin-Robinet, Thierry Rousseau, Nathalie Mejean, Ségolène Charra, Fanny Coron, Cécile Cassini, Frédéric Huet, Martine Le Merrer, Valérie Cormier-Daire, Nicole Laurent,

Journal:

Prenatal Diagnosis

Year:

2009

Language:

english

File:

PDF, 233 KB

english, 2009

11

Mitochondrial DNA Depletion is a Prevalent Cause of Multiple Respiratory Chain Deficiency in Childhood

Emmanuelle Sarzi, Alice Bourdon, Dominique Chrétien, Mohamed Zarhrate, Johanna Corcos, Abdelhamid Slama, Valérie Cormier-Daire, Pascale de Lonlay, Arnold Munnich, Agnès Rötig

Journal:

The Journal of Pediatrics

Year:

2007

Language:

english

File:

PDF, 214 KB

english, 2007

12

Maladies héréditaires du métabolisme : signes anténatals et diagnostic biologique

A. Brassier, C. Ottolenghi, N. Boddaert, P. Sonigo, T. Attié-Bitach, A.-E. Millischer-Bellaiche, G. Baujat, V. Cormier-Daire, V. Valayannopoulos, N. Seta, M. Piraud, B. Chadefaux-Vekemans, C. Vianey-S

Journal:

Archives de Pédiatrie

Year:

2012

Language:

english

File:

PDF, 851 KB

english, 2012

13

The 3M syndrome

Céline Huber, Arnold Munnich, Valerie Cormier-Daire

Journal:

Best Practice & Research Clinical Endocrinology & Metabolism

Year:

2011

Language:

english

File:

PDF, 298 KB

english, 2011

14

Condrodisplasias responsables de insuficiencia estatural

M. Le Merrer, V. Cormier-Daire

Journal:

EMC - Aparato Locomotor

Year:

2008

File:

PDF, 438 KB

2008

15

Osteocondrodisplasias letales

M. Le Merrer, V. Cormier-Daire

Journal:

EMC - Aparato Locomotor

Year:

2008

Language:

spanish

File:

PDF, 183 KB

spanish, 2008

16

New SUCLG1 patients expanding the phenotypic spectrum of this rare cause of mild methylmalonic aciduria

Vassili Valayannopoulos, Coralie Haudry, Valérie Serre, Magalie Barth, Nathalie Boddaert, Jean-Baptiste Arnoux, Valérie Cormier-Daire, Marlène Rio, Daniel Rabier, Anne Vassault, Arnold Munnich, Jean-P

Journal:

Year:

2010

Language:

english

File:

PDF, 357 KB

english, 2010

17

Sotos syndrome

Geneviève Baujat, Valérie Cormier-Daire

Journal:

Orphanet Journal of Rare Diseases

Year:

2007

Language:

english

File:

PDF, 219 KB

english, 2007

18

Hypophosphatasia: The Disease in Adults

Geneviève Baujat, Valérie Cormier-Daire…

Journal:

Clinical Reviews in Bone and Mineral Metabolism

Year:

2013

Language:

english

File:

PDF, 170 KB

english, 2013

19

Malformaciones congénitas de las extremidades: embriología, etiología

Dollé, P., Cormier-Daire, V.

Journal:

EMC - Aparato Locomotor

Year:

2002

File:

PDF, 948 KB

2002

20

Detailed clinical, genetic and neuroimaging characterization of OFD VI syndrome

Darmency-Stamboul, Véronique, Burglen, Lydie, Lopez, Estelle, Mejean, Nathalie, Dean, John, Franco, Brunella, Rodriguez, Diana, Lacombe, Didier, Desguerres, Isabelle, Cormier-Daire, Valérie, Doray, Bé

Journal:

European Journal of Medical Genetics

Year:

2013

Language:

english

File:

PDF, 1.11 MB

english, 2013

21

Adrenal Insufficiency and Abnormal Genitalia in a 46XX Female with Smith-Lemli-Opitz Syndrome

Chemaitilly, W., Goldenberg, A., Baujat, G., Thibaud, E., Cormier-Daire, V., Abadie, V.

Journal:

Hormone Research

Year:

2003

Language:

english

File:

PDF, 57 KB

english, 2003

22

Cartographie génétique des maladies osseuses constitutionnelles

Cormier-Daire, V.

Journal:

EMC - Appareil locomoteur

Year:

2011

Language:

french

File:

PDF, 160 KB

french, 2011

23

Ostéochondrodysplasies létales

Le Merrer, M., Cormier-Daire, V.

Journal:

EMC - Appareil locomoteur

Year:

2007

Language:

french

File:

PDF, 216 KB

french, 2007

24

Nosology and classification of genetic skeletal disorders: 2015 revision

Bonafe, Luisa, Cormier-Daire, Valerie, Hall, Christine, Lachman, Ralph, Mortier, Geert, Mundlos, Stefan, Nishimura, Gen, Sangiorgi, Luca, Savarirayan, Ravi, Sillence, David, Spranger, Jürgen, Superti-

Journal:

American Journal of Medical Genetics Part A

Year:

2015

Language:

english

File:

PDF, 134 KB

english, 2015

25

Holt-Oram syndrome: clinical and molecular description of 78 patients with TBX5 variants

Vanlerberghe, Clémence, Jourdain, Anne-Sophie, Ghoumid, Jamal, Frenois, Frédéric, Mezel, Aurélie, Vaksmann, Guy, Lenne, Bruno, Delobel, Bruno, Porchet, Nicole, Cormier-Daire, Valérie, Smol, Thomas, Es

Journal:

European Journal of Human Genetics

Year:

2018

Language:

english

File:

PDF, 1002 KB

english, 2018

26

SYM9.9E Necker Experience of Frontofacial Monobloc Advancement with Distraction (FFMBA)

Arnaud, E., Paternoster, G., Khonsari, H., Haber, S., Hennocq, Q., James, S., Morisseau-Durand, MP., Fauroux, B., Amaddeo, A., Cormier-Daire, V., Couloigner, V., Diner, P., Tomat, C., Robert, M., Meye

Journal:

Plastic and Reconstructive Surgery Global Open

Year:

2019

File:

PDF, 41 KB

2019

27

Craniofacial anomalies and malformations in respiratory chain deficiency

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

Journal:

American Journal of Medical Genetics

Year:

1996

Language:

english

File:

PDF, 683 KB

english, 1996

28

Microsatellite DNA markers detects 95% of chromosome 22q11 deletions

Bonnet, Damien, Cormier-Daire, Valérie, Kachaner, Jean, Szezepanski, Isabelle, Souillard, Patrick, Sidi, Daniel, Munnich, Arnold, Lyonnet, Stanislas

Journal:

American Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 97 KB

english, 1997

29

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

Cormier-Daire, Valérie, Le Merrer, Martine, Gigarel, Nadine, Morichon, Nicole, Prieur, Marguerite, Lyonnet, Stanislas, Vekemans, Michel, Munnich, Arnold

Journal:

American Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 151 KB

english, 1997

30

CHARGE syndrome: Report of 47 cases and review

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

Journal:

American Journal of Medical Genetics

Year:

1998

Language:

english

File:

PDF, 617 KB

english, 1998

31

Clinical homogeneity of the St�ve-Wiedemann syndrome and overlap with the Schwartz-Jampel syndrome type 2

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

Journal:

American Journal of Medical Genetics

Year:

1998

Language:

english

File:

PDF, 217 KB

english, 1998

32

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

Faivre, Laurence, Viot, G�raldine, Prieur, Marguerite, Turleau, Catherine, Gosset, Philippe, Romana, Serge, Munnich, Arnold, Vekemans, Michel, Cormier-Daire, Val�rie

Journal:

American Journal of Medical Genetics

Year:

2000

Language:

english

File:

PDF, 206 KB

english, 2000

33

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, Dr. M. LeMerrer

Journal:

American Journal of Medical Genetics Part A

Year:

2001

Language:

english

File:

PDF, 128 KB

english, 2001

34

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

Laurence Faivre, Michel Vekemans, Damien Sanlaville, Arnold Munnich, Valérie Cormier-Daire

Journal:

American Journal of Medical Genetics Part A

Year:

2001

Language:

english

File:

PDF, 44 KB

english, 2001

35

New mesomelic dysplasia with absent fibulae and triangular tibiae

Ravi Savarirayan, Valérie Cormier-Daire, Cynthia J. Curry, Marcus B. Nashelsky, Valerie Rappaport, David L. Rimoin, Ralph S. Lachman

Journal:

American Journal of Medical Genetics Part A

Year:

2000

Language:

english

File:

PDF, 244 KB

english, 2000

36

Oto-palato-digital syndrome, type II: Report of three cases with further delineation of the chondro-osseous morphology

Ravi Savarirayan, Valérie Cormier-Daire, Sheila Unger, Ralph S. Lachman, Peter J. Roughley, Stephen F. Wagner, David L. Rimoin, William R. Wilcox

Journal:

American Journal of Medical Genetics Part A

Year:

2000

Language:

english

File:

PDF, 821 KB

english, 2000

37

Temporal bone anomaly proposed as a major criteria for diagnosis of CHARGE syndrome

Jeanne Amiel, Tania Attieé-Bitach, Rémi Marianowski, Valérie Cormier-Daire, Véronique Abadie, Damien Bonnet, Marie Gonzales, Sophie Chemouny, Francis Brunelle, Arnold Munnich, Yves Manach, Stanislas L

Journal:

American Journal of Medical Genetics Part A

Year:

2001

Language:

english

File:

PDF, 184 KB

english, 2001

38

Osteopathia striata cranial sclerosis: Non-random X-inactivation suggestive of X-linked dominant inheritance

Géraldine Viot, Didier Lacombe, Albert David, Michèle Mathieu, Alain de Broca, Laurence Faivre, Nadine Gigarel, Arnold Munnich, Stanislas Lyonnet, Martine Le Merrer, Valérie Cormier-Daire

Journal:

American Journal of Medical Genetics Part A

Year:

2002

Language:

english

File:

PDF, 100 KB

english, 2002

39

Allelic and nonallelic heterogeneity in dyschondrosteosis (Leri-Weill syndrome)

Valérie Cormier-Daire, Céline Huber, Arnold Munnich

Journal:

American Journal of Medical Genetics Part A

Year:

2001

Language:

english

File:

PDF, 101 KB

english, 2001

40

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

Journal:

American Journal of Medical Genetics Part A

Year:

2002

Language:

english

File:

PDF, 70 KB

english, 2002

41

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

Journal:

American Journal of Medical Genetics Part A

Year:

2002

Language:

english

File:

PDF, 143 KB

english, 2002

42

“Baby rattle” pelvis dysplasia

Valérie Cormier-Daire, Ravi Savarirayan, Ralph S. Lachman, Julie A. Neidich, Kim Grace, David L. Rimoin, William R. Wilcox

Journal:

American Journal of Medical Genetics Part A

Year:

2001

Language:

english

File:

PDF, 660 KB

english, 2001

43

Neurological presentation of a congenital disorder of glycosylation CDG-Ia: Implications for diagnosis and genetic counseling

Valérie Drouin-Garraud, Mathilde Belgrand, Stéphanie Grünewald, Nathalie Seta, Jean-Nicolas Dacher, Alain Hénocq, Gert Matthijs, Valérie Cormier-Daire, Thierry Frébourg, Pascale Saugier-Veber

Journal:

American Journal of Medical Genetics Part A

Year:

2001

Language:

english

File:

PDF, 76 KB

english, 2001

44

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

Journal:

American Journal of Medical Genetics Part A

Year:

1995

Language:

english

File:

PDF, 332 KB

english, 1995

45

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

Journal:

American Journal of Medical Genetics Part A

Year:

1995

Language:

english

File:

PDF, 409 KB

english, 1995

46

Severe mental retardation, short stature, facial anomalies, joint laxity, and dislocations in two sisters: Previously undescribed MCA/MR syndrome

André Mégarbané, Valérie Cormier-Daire

Journal:

American Journal of Medical Genetics Part A

Year:

2001

Language:

english

File:

PDF, 221 KB

english, 2001

47

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

Journal:

American Journal of Medical Genetics Part A

Year:

2003

Language:

english

File:

PDF, 104 KB

english, 2003

48

Werner mesomelic dysplasia with Hirschsprung disease

Alice Goldenberg, Mathieu Milh, Pascal de Lagausie, Renaud Mesnage, Fatiha Benarif, Marie-Christine De Blois, Arnold Munnich, Stanislas Lyonnet, Valérie Cormier-Daire

Journal:

American Journal of Medical Genetics Part A

Year:

2003

Language:

english

File:

PDF, 96 KB

english, 2003

49

Long-term outcome in desbuquois dysplasia: A follow-up in four adult patients

Laurence Faivre, Valérie Cormier-Daire, Ian Young, Henri Bracq, Georges Finidori, Jean Paul Padovani, Sylvie Odent, Ralph Lachman, Arnold Munnich, Pierre Maroteaux, Martine Le Merrer

Journal:

American Journal of Medical Genetics Part A

Year:

2004

Language:

english

File:

PDF, 250 KB

english, 2004

50

Desbuquois dysplasia, a reevaluation with abnormal and “normal” hands: Radiographic manifestations

Laurence Faivre, Valérie Cormier-Daire, Alison M. Eliott, Fiona Field, Arnold Munnich, Pierre Maroteaux, Martine Le Merrer, Ralph Lachman

Journal:

American Journal of Medical Genetics Part A

Year:

2004

Language:

english

File:

PDF, 164 KB

english, 2004

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