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51

Rett phenotype with X/autosome translocation: Possible mapping to the short arm of chromosome X

Hubert Journal, Judith Melki, Catherine Turleau, Arnold Munnich, Jean de Grouchy

Journal:

American Journal of Medical Genetics Part A

Year:

1990

Language:

english

File:

PDF, 459 KB

english, 1990

52

Parental origin of the X chromosomes in rett syndrome

Laure Benedetti, Arnold Munnich, Dr. Judith Melki, Marc Tardieu, Catherine Turleau

Journal:

American Journal of Medical Genetics Part A

Year:

1992

Language:

english

File:

PDF, 119 KB

english, 1992

53

No evidence for linkage to the type 1 or type 2 neurofibromatosis loci in Noonan syndrome families

Wayne F. Flintoff, Michel Bahuau, Stanislas Lyonnet, Simone Gilgenkrantz, Didier Lacombe, François Marçon, Jacqueline Levilliers, Jean Kachaner, Arnold Munnich, Martine Le Merrer

Journal:

American Journal of Medical Genetics Part A

Year:

1993

Language:

english

File:

PDF, 497 KB

english, 1993

54

Apparent genetic homogeneity of the treacher Collins-Franceschetti syndrome

Patrick Edery, Yves Manach, Martine Le Merrer, Marianne Till, Alain Vignal, Stanislas Lyonnet, Arnold Munnich

Journal:

American Journal of Medical Genetics Part A

Year:

1994

Language:

english

File:

PDF, 310 KB

english, 1994

55

Lumping Juberg–Marsidi syndrome and X-linked α-thalassemia/mental retardation syndrome?

Pascale Saugier-Veber, Arnold Munnich, Stanislas Lyonnet, Annick Toutain, Claude Moraine, Charles Piussan, Michèle Mathieu, Richard J. Gibbons

Journal:

American Journal of Medical Genetics Part A

Year:

1995

Language:

english

File:

PDF, 197 KB

english, 1995

56

Sternal cleft: Case report and review of a series of nine patients

Delphine Héron, Stanislas Lyonnet, Laurence Iserin, Arnold Munnich, Jean-Paul Padovani

Journal:

American Journal of Medical Genetics Part A

Year:

1995

Language:

english

File:

PDF, 332 KB

english, 1995

57

Clinical spectrum and diagnosis of mitochondrial disorders

Arnold Munnich, Pierre Rustin

Journal:

American Journal of Medical Genetics Part A

Year:

2001

Language:

english

File:

PDF, 263 KB

english, 2001

58

Exclusion of RNX as a major gene in congenital central hypoventilation syndrome (CCHS, Ondine's curse)

Jeanne Amiel, Anna Pelet, Ha Trang, Loïc de Pontual, Michel Simonneau, Arnold Munnich, Claude Gaultier, Stanislas Lyonnet

Journal:

American Journal of Medical Genetics Part A

Year:

2003

Language:

english

File:

PDF, 50 KB

english, 2003

59

Clinical homogeneity and genetic heterogeneity in Weill–Marchesani syndrome

Laurence Faivre, Hélène Dollfus, Stanislas Lyonnet, Yves Alembik, André Mégarbané, John Samples, Robert J. Gorlin, Abdulrahman Alswaid, Josué Feingold, Martine Le Merrer, Arnold Munnich, Valérie Cormi

Journal:

American Journal of Medical Genetics Part A

Year:

2003

Language:

english

File:

PDF, 60 KB

english, 2003

60

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

61

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

62

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

63

Neocortical neuronal arrangement in LIS1 and DCX lissencephaly may be different

Géraldine Viot, Pascale Sonigo, Isabelle Simon, Brigitte Simon-Bouy, Frédéric Chadeyron, Cherif Beldjord, Julia Tantau, Jelena Martinovic, Chantal Esculpavit, Francis Brunelle, Arnold Munnich, Michel

Journal:

American Journal of Medical Genetics Part A

Year:

2004

Language:

english

File:

PDF, 238 KB

english, 2004

64

Clinical and genetic heterogeneity in Desbuquois dysplasia

Laurence Faivre, Martine Le Merrer, Klaus Zerres, Mongi Ben Hariz, Déborah Scheffer, Ian D. Young, Pierre Maroteaux, Arnold Munnich, Valérie Cormier-Daire

Journal:

American Journal of Medical Genetics Part A

Year:

2004

Language:

english

File:

PDF, 175 KB

english, 2004

65

Intrafamilial phenotypic variability of osteopetrosis due to chloride channel 7 (CLCN7) mutations

Ana Belinda Campos-Xavier, Jean-Laurent Casanova, Yves Doumaz, Josué Feingold, Arnold Munnich, Valérie Cormier-Daire

Journal:

American Journal of Medical Genetics Part A

Year:

2005

Language:

english

File:

PDF, 84 KB

english, 2005

66

Exclusion of WNT4 as a major gene in Rokitansky-Küster-Hauser anomaly

Mathieu Clément-Ziza, Naziha Khen, Jacques Gonzales, Célia Crétolle-Vastel, Jean-Yves Picard, Anna Tullio-Pelet, Claude Besmond, Arnold Munnich, Stanislas Lyonnet, Claire Nihoul-Fékété

Journal:

American Journal of Medical Genetics Part A

Year:

2005

Language:

english

File:

PDF, 47 KB

english, 2005

67

A novel recurrent mitochondrial DNA mutation in ND3 gene is associated with isolated complex I deficiency causing Leigh syndrome and dystonia

Emmanuelle Sarzi, Michael D. Brown, Sophie Lebon, Dominique Chretien, Arnold Munnich, Agnès Rotig, Vincent Procaccio

Journal:

American Journal of Medical Genetics Part A

Year:

2007

Language:

english

File:

PDF, 156 KB

english, 2007

68

New case of interstitial deletion 12(q15-q21.2) in a girl with facial dysmorphism and mental retardation

Caroline Schluth, Roselyne Gesny, Guntram Borck, Richard Redon, Véronique Abadie, Pascale Kleinfinger, Arnold Munnich, Stanislas Lyonnet, Laurence Colleaux

Journal:

American Journal of Medical Genetics Part A

Year:

2008

Language:

english

File:

PDF, 133 KB

english, 2008

69

Prenatal cortical hyperostosis with COL1A1 gene mutation

Agnès Kamoun-Goldrat, Jelena Martinovic, Julien Saada, Pascale Sonigo-Cohen, Ferechte Razavi, Arnold Munnich, Martine Le Merrer

Journal:

American Journal of Medical Genetics Part A

Year:

2008

Language:

english

File:

PDF, 118 KB

english, 2008

70

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

71

Thanatophoric dysplasia caused by double missense FGFR3 mutations

Stéphanie Pannier, Jelena Martinovic, Solange Heuertz, Anne-Lise Delezoide, Arnold Munnich, Laurent Schibler, Valérie Serre, Laurence Legeai-Mallet

Journal:

American Journal of Medical Genetics Part A

Year:

2009

Language:

english

File:

PDF, 316 KB

english, 2009

72

Postnatal growth retardation, facial dysmorphism, spondylocarpal synostosis, cardiac defect, and inner ear malformation (cardiospondylocarpofacial syndrome?)—A distinct syndrome?

Sérgio B. Sousa, Geneviéve Baujat, Véronique Abadie, Damien Bonnet, Daniel Sidi, Arnold Munnich, Deborah Krakow, Valérie Cormier-Daire

Journal:

American Journal of Medical Genetics Part A

Year:

2010

Language:

english

File:

PDF, 246 KB

english, 2010

73

Mosaic compound heterozygosity of SHOX resulting in Leri–Weill dyschondrosteosis with marked short stature: Implications for disease mechanisms and recurrence risks

Orit Reish, Céline Huber, Gheona Altarescu, Daphne Chapman-Shimshoni, Ephrat Levy-Lahad, Paul Renbaum, Maya Mashevich, Arnold Munnich, Valérie Cormier-Daire

Journal:

American Journal of Medical Genetics Part A

Year:

2010

Language:

english

File:

PDF, 232 KB

english, 2010

74

Expanding the skeletal phenotype of Loeys-Dietz syndrome

Sérgio B. Sousa, Karen Lambot-Juhan, Marlène Rio, Geneviève Baujat, Vicken Topouchian, Nadine Hanna, Martine Le Merrer, Francis Brunelle, Arnold Munnich, Catherine Boileau, Valérie Cormier-Daire

Journal:

American Journal of Medical Genetics Part A

Year:

2011

Language:

english

File:

PDF, 193 KB

english, 2011

75

A non-pathogenic pseudoautosomal region 1 (PAR1) copy number variant downstream of SHOX

Orit Reish, Céline Huber, Gheona Altarescu, Daphne Chapman-Shimshoni, Ephrat Levy-Lahad, Paul Renbaum, Maya Mashevich, Arnold Munnich, Valérie Cormier-Daire

Journal:

American Journal of Medical Genetics Part A

Year:

2011

Language:

english

File:

PDF, 68 KB

english, 2011

76

Clinical and molecular overlap in overgrowth syndromes

Geneviève Baujat, Marlène Rio, Sylvie Rossignol, Damien Sanlaville, Stanislas Lyonnet, Martine Le Merrer, Arnold Munnich, Christine Gicquel, Laurence Colleaux, Valérie Cormier-Daire

Journal:

American Journal of Medical Genetics Part C: Seminars in Medical Genetics

Year:

2005

Language:

english

File:

PDF, 176 KB

english, 2005

77

Clinical and molecular overlap in overgrowth syndromes

Geneviève Baujat, Marlène Rio, Sylvie Rossignol, Damien Sanlaville, Stanislas Lyonnet, Martine Le Merrer, Arnold Munnich, Christine Gicquel, Laurence Colleaux, Valérie Cormier-Daire

Journal:

American Journal of Medical Genetics Part C: Seminars in Medical Genetics

Year:

2006

Language:

english

File:

PDF, 52 KB

english, 2006

78

Twinkle helicase (PEO1) gene mutation causes mitochondrial DNA depletion

Emmanuelle Sarzi, Steffi Goffart, Valérie Serre, Dominique Chrétien, Abdelhamid Slama, Arnold Munnich, Johannes N. Spelbrink, Agnès Rötig

Journal:

Annals of Neurology

Year:

2007

Language:

english

File:

PDF, 681 KB

english, 2007

79

Defective FA2H leads to a novel form of neurodegeneration with brain iron accumulation (NBIA)

Michael C. Kruer, Coro Paisán-Ruiz, Nathalie Boddaert, Moon Y. Yoon, Hiroko Hama, Allison Gregory, Alessandro Malandrini, Randall L. Woltjer, Arnold Munnich, Stephanie Gobin, Brenda J. Polster, Silvia

Journal:

Annals of Neurology

Year:

2010

Language:

english

File:

PDF, 497 KB

english, 2010

80

Ret in human development and oncogenesis

Patrick Edery, Arnold Munnich, Stanislas Lyonnet, Charis Eng

Journal:

Year:

1997

Language:

english

File:

PDF, 821 KB

english, 1997

81

Fatal neonatal liver failure and mitochondrial cytopathy (oxidative phosphorylation deficiency): A light and electron microscopic study of the liver

Paulette Bioulac-Sage, Françoise Parrot-Roulaud, Jean Pierre Mazat, Thierry Lamireau, Michelle Coquet, Boris Sandler, Jean Louis Demarquez, Valérie Cormier, Arnold Munnich, Mireille Carré, Charles Bal

Journal:

Year:

1993

Language:

english

File:

PDF, 1.08 MB

english, 1993

82

Mutant NDUFV2 subunit of mitochondrial complex I causes early onset hypertrophic cardiomyopathy and encephalopathy

Paule Bénit, Réjane Beugnot, Dominique Chretien, Irina Giurgea, Pascale De Lonlay-Debeney, Jean-Paul Issartel, Marisol Corral-Debrinski, Stefan Kerscher, Pierre Rustin, Agnès Rötig, Arnold Munnich

Journal:

Year:

2003

Language:

english

File:

PDF, 140 KB

english, 2003

83

Five novel missense mutations of the phenylalanine hydroxylase gene in phenylketonuria

Paule Bénit, Françoise Rey, Dominique Melle, Arnold Munnich, Jean Rey

Journal:

Year:

1994

Language:

english

File:

PDF, 245 KB

english, 1994

84

Novel intragenic deletions and point mutations of the ornithine transcarbamylase gene in congenital hyperammonemia

Patrick Calvas, Bertrand Ségues, Jean-Michel Rozet, Daniel Rabier, Jean-Paul Bonnefond, Arnold Munnich

Journal:

Year:

1998

Language:

english

File:

PDF, 320 KB

english, 1998

85

Molecular analysis of SMA patients without homozygous SMN1 deletions using a new strategy for identification of SMN1 subtle mutations

Olivier Clermont, Philippe Burlet, Paule Benit, Dominique Chanterau, Pascale Saugier-Veber, Arnold Munnich, Veronica Cusin

Journal:

Year:

2004

Language:

english

File:

PDF, 224 KB

english, 2004

86

Father-to-daughter transmission of Cornelia de Lange syndrome caused by a mutation in the 5′ untranslated region of the NIPBL Gene

Guntram Borck, Mohamed Zarhrate, Céline Cluzeau, Elodie Bal, Jean-Paul Bonnefont, Arnold Munnich, Valérie Cormier-Daire, Laurence Colleaux

Journal:

Year:

2006

Language:

english

File:

PDF, 246 KB

english, 2006

87

Comprehensive survey of mutations in RP2 and RPGR in patients affected with distinct retinal dystrophies: genotype–phenotype correlations and impact on genetic counseling

Valérie Pelletier, Marguerite Jambou, Nathalie Delphin, Elena Zinovieva, Morgane Stum, Nadine Gigarel, Hélène Dollfus, Christian Hamel, Annick Toutain, Jean-Louis Dufier, Olivier Roche, Arnold Munnich

Journal:

Year:

2007

Language:

english

File:

PDF, 447 KB

english, 2007

88

Clinical, cellular, and neuropathological consequences of AP1S2 mutations: further delineation of a recognizable X-linked mental retardation syndrome

Guntram Borck, Anahi Mollà-Herman, Nathalie Boddaert, Férechté Encha-Razavi, Anne Philippe, Laurence Robel, Isabelle Desguerre, Francis Brunelle, Alexandre Benmerah, Arnold Munnich, Laurence Colleaux

Journal:

Year:

2008

Language:

english

File:

PDF, 344 KB

english, 2008

89

Polyalanine expansions might not result from unequal crossing-over

Delphine Trochet, Loïc de Pontual, Boris Keren, Arnold Munnich, Michel Vekemans, Stanislas Lyonnet, Jeanne Amiel

Journal:

Year:

2007

Language:

english

File:

PDF, 184 KB

english, 2007

90

Homozygous mutation of the PHOX2B gene in congenital central hypoventilation syndrome (Ondine's Curse)

Delphine Trochet, Loïc de Pontual, Maria Helena Estêvao, Yves Mathieu, Arnold Munnich, J. Feingold, Christo Goridis, Stanislas Lyonnet, Jeanne Amiel

Journal:

Year:

2008

Language:

english

File:

PDF, 495 KB

english, 2008

91

Alterations of the IKBKG locus and diseases: an update and a report of 13 novel mutations

Francesca Fusco, Alessandra Pescatore, Elodie Bal, Aida Ghoul, Mariateresa Paciolla, Maria Brigida Lioi, Michele D'Urso, Smail Hadj Rabia, Christine Bodemer, Jean Paul Bonnefont, Arnold Munnich, Maria

Journal:

Year:

2008

Language:

english

File:

PDF, 372 KB

english, 2008

92

Structural insights on pathogenic effects of novel mutations causing pyruvate carboxylase deficiency

Sophie Monnot, Valérie Serre, Bernadette Chadefaux-Vekemans, Joelle Aupetit, Stéphane Romano, Pascale De Lonlay, Jean-Marie Rival, Arnold Munnich, Julie Steffann, Jean-Paul Bonnefont

Journal:

Year:

2009

Language:

english

File:

PDF, 452 KB

english, 2009

93

In Vitro studies of non poly alanine PHOX2B mutations argue against a loss-of-function mechanism for congenital central hypoventilation

Delphine Trochet, Yves Mathieu, Loïc de Pontual, Ravi Savarirayan, Arnold Munnich, Jean-François Brunet, Stanislas Lyonnet, Christo Goridis, Jeanne Amiel

Journal:

Year:

2009

Language:

english

File:

PDF, 550 KB

english, 2009

94

Molecular Spectrum of Autosomal Dominant Hypercholesterolemia in France

Marie Marduel, Alain Carrié, Agnes Sassolas, Martine Devillers, Valérie Carreau, Mathilde Di Filippo, Danièle Erlich, Marianne Abifadel, Alice Marques-Pinheiro, Arnold Munnich, Claudine Junien, Cather

Journal:

Year:

2010

Language:

english

File:

PDF, 122 KB

english, 2010

95

Germline gain-of-function mutations of ALK disrupt central nervous system development

Loïc de Pontual, Dania Kettaneh, Christopher T. Gordon, Myriam Oufadem, Nathalie Boddaert, Melissa Lees, Laurent Balu, Eric Lachassinne, Andy Petros, Julie Mollet, Louise C. Wilson, Arnold Munnich, La

Journal:

Year:

2011

Language:

english

File:

PDF, 265 KB

english, 2011

96

Evidence of a founder effect for the RETGC1 (GUCY2D) 2943DelG mutation in Leber congenital amaurosis pedigrees of Finnish origin

Sylvain Hanein, Isabelle Perrault, Päivi Olsen, Tuija Lopponen, Marja Hietala, Sylvie Gerber, Marc Jeanpierre, Fabienne Barbet, Dominique Ducroq, Sélim Hakiki, Arnold Munnich, Jean-Michel Rozet, Josse

Journal:

Year:

2002

Language:

english

File:

PDF, 57 KB

english, 2002

97

NDP gene mutations in 14 French families with Norrie disease

Ghislaine Royer, Sylvain Hanein, Valérie Raclin, Nadine Gigarel, Jean-Michel Rozet, Arnold Munnich, Julie Steffann, Jean-Louis Dufier, Josseline Kaplan, Jean-Paul Bonnefont

Journal:

Year:

2003

Language:

english

File:

PDF, 29 KB

english, 2003

98

A novel mutation in the GUCY2D gene responsible for an early onset severe RP different from the usual GUCY2D-LCA phenotype

Isabelle Perrault, Sylvain Hanein, Sylvie Gerber, Beatrice Lebail, Patrice Vlajnik, Fabienne Barbet, Dominique Ducroq, Jean-Louis Dufier, Arnold Munnich, Josseline Kaplan, Jean-Michel Rozet

Journal:

Year:

2005

Language:

english

File:

PDF, 570 KB

english, 2005

99

A novel mutation in the dihydrolipoamide dehydrogenase E3 subunit gene (DLD) resulting in an atypical form of α-ketoglutarate dehydrogenase deficiency

Marie-Hélène Odièvre, Dominique Chretien, Arnold Munnich, Brian H. Robinson, Renée Dumoulin, Sahben Masmoudi, Noman Kadhom, Agnès Rötig, Pierre Rustin, Jean-Paul Bonnefont

Journal:

Year:

2005

Language:

english

File:

PDF, 156 KB

english, 2005

100

Incidence and clinical features of X-linked Cornelia de Lange syndrome due to SMC1L1 mutations

Guntram Borck, Mohamed Zarhrate, Jean-Paul Bonnefont, Arnold Munnich, Valérie Cormier-Daire, Laurence Colleaux

Journal:

Year:

2007

Language:

english

File:

PDF, 91 KB

english, 2007

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