Daire, Valérie Cormier: search on Z-Library

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1

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

2

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

3

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

4

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

5

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

6

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

7

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

8

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

9

Sotos syndrome

Geneviève Baujat, Valérie Cormier-Daire

Journal:

Orphanet Journal of Rare Diseases

Year:

2007

Language:

english

File:

PDF, 219 KB

english, 2007

10

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

11

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

12

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

13

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

14

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

15

Ghosal type hematodiaphyseal dysplasia

Jeevan, Amrit, Doyard, Mathilde, Kabra, Madhulika, Daire, Valerie Cormier, Gupta, Neerja

Journal:

Indian Pediatrics

Year:

2016

Language:

english

File:

PDF, 456 KB

english, 2016

16

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

17

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

18

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

19

Clinical and molecular variability in congenital dyserythropoietic anaemia type I

Hannah Tamary, Orly Dgany, Alexis Proust, Tatyana Krasnov, Nili Avidan, Tal Eidelitz-Markus, Gil Tchernia, David Geneviève, Valérie Cormier-Daire, Brigitte Bader-Meunier, Corinne Ferrero-Vacher, Marti

Journal:

British Journal of Haematology

Year:

2005

Language:

english

File:

PDF, 143 KB

english, 2005

20

Mitochondrial DNA rearrangements with onset as chronic diarrhea with villous atrophy

Valérie Cormier-Daire, Jean-Paul Bonnefont, Pierre Rustin, Chantal Maurage, Hélène Ogier, Jacques Schmitz, Claude Ricour, Jean-Marie Saudubray, Arnold Munnich, Agnès Rötig

Journal:

The Journal of Pediatrics

Year:

1994

Language:

english

File:

PDF, 2.25 MB

english, 1994

21

A Gene for Pyridoxine-Dependent Epilepsy Maps to Chromosome 5q31

Valérie Cormier-Daire, Nathalie Dagoneau, Rima Nabbout, Lydie Burglen, Clotilde Penet, Christine Soufflet, Isabelle Desguerre, Arnold Munnich, Olivier Dulac

Journal:

The American Journal of Human Genetics

Year:

2000

Language:

english

File:

PDF, 745 KB

english, 2000

22

The 3M Complex Maintains Microtubule and Genome Integrity

Yan, Jun, Yan, Feng, Li, Zhijun, Sinnott, Becky, Cappell, Kathryn M., Yu, Yanbao, Mo, Jinyao, Duncan, Joseph A., Chen, Xian, Cormier-Daire, Valerie, Whitehurst, Angelique W., Xiong, Yue

Journal:

Year:

2014

Language:

english

File:

PDF, 4.76 MB

english, 2014

23

Respiratory Chain Deficiency in Alpers Syndrome

Gauthier-Villars, Marion, Landrieu, P., Cormier-Daire, Valérie, Jacquemin, E., Chrétien, D., Rötig, Agnès, Rustin, P., Munnich, A., de Lonlay, Pascale

Journal:

Neuropediatrics

Year:

2001

Language:

english

File:

PDF, 52 KB

english, 2001

24

Brain and skull base MRI findings in patients with Ollier-Maffucci disease: A series of 12 patient-cases

Mandonnet, Emmanuel, Anract, Philippe, Martin, Elisabeth, Roujeau, Thomas, Spena, Giannantonio, Cormier-Daire, Valérie, Duffau, Hugues, Baujat, Genneviève

Journal:

Clinical Neurology and Neurosurgery

Year:

2017

Language:

english

File:

PDF, 3.26 MB

english, 2017

25

Expanding the phenotype in Adams–Oliver syndrome correlating with the genotype

Dudoignon, Benjamin, Huber, Celine, Michot, Caroline, Di Rocco, Federico, Girard, Muriel, Lyonnet, Stanislas, Rio, Marlène, Rabia, Smail Hadj, Daire, Valérie Cormier, Baujat, Geneviève

Journal:

American Journal of Medical Genetics Part A

Year:

2019

File:

PDF, 1.64 MB

2019

26

Ostéoporose juvénile associée à des « Calvarial Doughnuts » : une ostéoporose évolutive, à haut remodelage osseux, évoluant favorablement sous bisphosphonates

Couture, Guillaume, Degboe, Yannick, Baujat, Geneviève, Cormier-Daire, Valérie, Laroche, Michel

Journal:

Revue du Rhumatisme

Year:

2019

File:

PDF, 439 KB

2019

27

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

28

Probable identity-by-descent for a mutation in the Dyggve–Melchior–Clausen/Smith–McCort dysplasia (Dymeclin) gene among patients from Guam, Chile, Argentina, and Spain

Robert Pogue, Nadia Ehtesham, Gabriela M. Repetto, Roque Carrero-Valenzuela, Cristina Bazán de Casella, Silvia Pintos de Pons, Maria Luisa Martínez-Frías, Solange Heuertz, Valerie Cormier-Daire, Danie

Journal:

American Journal of Medical Genetics Part A

Year:

2005

Language:

english

File:

PDF, 124 KB

english, 2005

29

Mutations in DDR2 Gene Cause SMED with Short Limbs and Abnormal Calcifications

Ruth Bargal, Valerie Cormier-Daire, Ziva Ben-Neriah, Martine Le Merrer, Jacob Sosna, Judith Melki, David H. Zangen, Sarah F. Smithson, Zvi Borochowitz, Ruth Belostotsky, Annick Raas-Rothschild

Journal:

The American Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 690 KB

english, 2009

30

Early-Onset Ophthalmoplegia in Leigh-Like Syndrome Due to NDUFV1 Mutations

Vincent Laugel, Valérie This-Bernd, Valérie Cormier-Daire, Claude Speeg-Schatz, Anne de Saint-Martin, Michel Fischbach

Journal:

Pediatric Neurology

Year:

2007

Language:

english

File:

PDF, 341 KB

english, 2007

31

Large-Scale Deletion and Point Mutations of the Nuclear NDUFV1 and NDUFS1 Genes in Mitochondrial Complex I Deficiency

Paule Bénit, Dominique Chretien, Nohman Kadhom, Pascale de Lonlay-Debeney, Valérie Cormier-Daire, Aguinaldo Cabral, Sylviane Peudenier, Pierre Rustin, Arnold Munnich, Agnès Rötig

Journal:

The American Journal of Human Genetics

Year:

2001

Language:

english

File:

PDF, 1.39 MB

english, 2001

32

XYLT1 Mutations in Desbuquois Dysplasia Type 2

Bui, Catherine, Huber, Céline, Tuysuz, Beyhan, Alanay, Yasemin, Bole-Feysot, Christine, Leroy, Jules G., Mortier, Geert, Nitschke, Patrick, Munnich, Arnold, Cormier-Daire, Valérie

Journal:

The American Journal of Human Genetics

Year:

2014

Language:

english

File:

PDF, 939 KB

english, 2014

33

Gain-of-function mutations in SMAD4 cause a distinctive repertoire of cardiovascular phenotypes in patients with Myhre syndrome

Lin, Angela E., Michot, Caroline, Cormier-Daire, Valerie, L'Ecuyer, Thomas J., Matherne, G. Paul, Barnes, Barrett H., Humberson, Jennifer B., Edmondson, Andrew C., Zackai, Elaine, O'Connor, Matthew J.

Journal:

American Journal of Medical Genetics Part A

Year:

2016

Language:

english

File:

PDF, 2.86 MB

english, 2016

34

Heterozygous Mutations in MAP3K7, Encoding TGF-β-Activated Kinase 1, Cause Cardiospondylocarpofacial Syndrome

Le Goff, Carine, Rogers, Curtis, Le Goff, Wilfried, Pinto, Graziella, Bonnet, Damien, Chrabieh, Maya, Alibeu, Olivier, Nistchke, Patrick, Munnich, Arnold, Picard, Capucine, Cormier-Daire, Valérie

Journal:

The American Journal of Human Genetics

Year:

2016

Language:

english

File:

PDF, 666 KB

english, 2016

35

Reduced immunoglobulin gene diversity in patients with Cornelia de Lange syndrome

Björkman, Andrea, Du, Likun, van der Burg, Mirjam, Cormier-Daire, Valerie, Borck, Guntram, Pié, Juan, Anderlid, Britt-Marie, Hammarström, Lennart, Ström, Lena, Villartay, Jean-Pierre de, Kipling, Davi

Journal:

Journal of Allergy and Clinical Immunology

Year:

2017

Language:

english

File:

PDF, 1.58 MB

english, 2017

36

PAPSS2 ‐related brachyolmia: Clinical and radiological phenotype in 18 new cases

Bownass, Lucy, Abbs, Stephen, Armstrong, Ruth, Baujat, Genevieve, Behzadi, Gry, Berentsen, Ragnhild Drage, Burren, Christine, Calder, Alistair, Cormier‐Daire, Valérie, Newbury‐Ecob, Ruth, Foulds, Nico

Journal:

American Journal of Medical Genetics Part A

Year:

2019

Language:

english

File:

PDF, 1.95 MB

english, 2019

37

A new osteogenesis imperfecta with improvement over time maps to 11q

Agnès Kamoun-Goldrat, Stéphanie Pannier, Céline Huber, Georges Finidori, Arnold Munnich, Valérie Cormier-Daire, Martine Le Merrer

Journal:

American Journal of Medical Genetics Part A

Year:

2008

Language:

english

File:

PDF, 241 KB

english, 2008

38

Dyggve–Melchior–Clausen syndrome and Smith–McCort dysplasia: Clinical and molecular findings in three families supporting genetic heterogeneity in Smith–McCort dysplasia

Luitgard M. Neumann, Vincent El Ghouzzi, Vincent Paupe, Hans-Peter Weber, Elisabeth Fastnacht, Andreas Leenen, Sigrid Lyding, Anne Klusmann, Ertan Mayatepek, Jörg Pelz, Valerie Cormier-Daire

Journal:

American Journal of Medical Genetics Part A

Year:

2006

Language:

english

File:

PDF, 580 KB

english, 2006

39

Prenatal cortical hyperostosis (Caffey disease)

Ravi Savarirayan, Valérie Cormier-Daire, David J. Amor, William R. Wilcox, Ralph S. Lachman, David L. Rimoin

Journal:

Pediatric Radiology

Year:

2002

Language:

english

File:

PDF, 38 KB

english, 2002

40

Phenotypic variability at the TGF-β1 locus in Camurati-Engelmann disease

Ana Campos-Xavier, Jorge M. Saraiva, Ravi Savarirayan, Alain Verloes, Josué Feingold, Laurence Faivre, Arnold Munnich, Martine Le Merrer, Valérie Cormier-Daire

Journal:

Year:

2001

Language:

english

File:

PDF, 92 KB

english, 2001

41

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

Redon, Richard, Baujat, Geneviève, Sanlaville, Damien, Le Merrer, Martine, Vekemans, Michel, Munnich, Arnold, Carter, Nigel P, Cormier-Daire, Valérie, Colleaux, Laurence

Journal:

European Journal of Human Genetics

Year:

2006

Language:

english

File:

PDF, 370 KB

english, 2006

42

Mutations in MMP9 and MMP13 Determine the Mode of Inheritance and the Clinical Spectrum of Metaphyseal Anadysplasia

Ekkehart Lausch, Romy Keppler, Katja Hilbert, Valerie Cormier-Daire, Sarah Nikkel, Gen Nishimura, Sheila Unger, Jürgen Spranger, Andrea Superti-Furga, Bernhard Zabel

Journal:

The American Journal of Human Genetics

Year:

2009

File:

PDF, 145 KB

2009

43

Striking hematological abnormalities in patients with microcephalic osteodysplastic primordial dwarfism type II (MOPD II): A potential role of pericentrin in hematopoiesis

Unal, Sule, Alanay, Yasemin, Cetin, Mualla, Boduroglu, Koray, Utine, Eda, Cormier-Daire, Valerie, Huber, Celine, Ozsurekci, Yasemin, Kilic, Esra, Simsek Kiper, Ozlem Pelin, Gumruk, Fatma

Journal:

Pediatric Blood & Cancer

Year:

2014

Language:

english

File:

PDF, 74 KB

english, 2014

44

Homozygous and Compound-Heterozygous Mutations in TGDS Cause Catel-Manzke Syndrome

Ehmke, Nadja, Caliebe, Almuth, Koenig, Rainer, Kant, Sarina G., Stark, Zornitza, Cormier-Daire, Valérie, Wieczorek, Dagmar, Gillessen-Kaesbach, Gabriele, Hoff, Kirstin, Kawalia, Amit, Thiele, Holger,

Journal:

The American Journal of Human Genetics

Year:

2014

Language:

english

File:

PDF, 1004 KB

english, 2014

45

New ZMPSTE24 (FACE1) mutations in patients affected with restrictive dermopathy or related progeroid syndromes and mutation update

Navarro, Claire Laure, Esteves-Vieira, Vera, Courrier, Sébastien, Boyer, Amandine, Duong Nguyen, Thuy, Huong, Le Thi Thanh, Meinke, Peter, Schröder, Winnie, Cormier-Daire, Valérie, Sznajer, Yves, Amor

Journal:

European Journal of Human Genetics

Year:

2014

Language:

english

File:

PDF, 1.83 MB

english, 2014

46

Expanding the clinical spectrum of B4GALT7 deficiency: homozygous p.R270C mutation with founder effect causes Larsen of Reunion Island syndrome

Cartault, François, Munier, Patrick, Jacquemont, Marie-Line, Vellayoudom, Jeannine, Doray, Bérénice, Payet, Christine, Randrianaivo, Hanitra, Laville, Jean-Marc, Munnich, Arnold, Cormier-Daire, Valéri

Journal:

European Journal of Human Genetics

Year:

2015

Language:

english

File:

PDF, 487 KB

english, 2015

47

La duplication Xq25 : rôle crucial du gène STAG2 dans cette nouvelle cohésinopathie

Leroy, Camille, Jacquemont, Marie-Line, Doray, Bérénice, Lamblin, Denis, Cormier Daire, Valérie, Philippe, Anne, Patrat, Catherine, Steffan, Julie, Colleaux, Laurence, Vekemans, Michel, Romana, Serge,

Journal:

Year:

2015

Language:

french

File:

PDF, 59 KB

french, 2015

48

Central sleep apnea in children: experience at a single center

Felix, Orlane, Amaddeo, Alessandro, Olmo Arroyo, Jorge, Zerah, Michel, Puget, Stephanie, Cormier-Daire, Valerie, Baujat, Genevieve, Pinto, Graziella, Fernandez-Bolanos, Marta, Fauroux, Brigitte

Journal:

Year:

2016

Language:

english

File:

PDF, 215 KB

english, 2016

49

Metalloproteinases and their inhibitors in the pathophysiology of heritable connective tissue disorders: current evidence

Le Goff, Carine, Delhon, Laure, Cormier-Daire, Valerie

Journal:

Metalloproteinases In Medicine

Year:

2016

Language:

english

File:

PDF, 345 KB

english, 2016

50

Genetic homogeneity of the Camurati–Engelmann disease

Ana Belinda Cf Xavier, Jorge M Saraiva, Martine Le Merrer, Nathalie Dagoneau, Céline Huber, Clotilde Penet, Arnold Munnich, Valérie Cormier-Daire

Journal:

Clinical Genetics

Year:

2000

Language:

english

File:

PDF, 163 KB

english, 2000

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