Arnold, Munnich: search on Z-Library

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1

Unraveling the etiological complexity of autism spectrum disorders

Munnich, Arnold

Journal:

Developmental Medicine & Child Neurology

Year:

2020

Language:

english

File:

PDF, 31 KB

english, 2020

2

Dépistage néonatal de la drépanocytose

Cavazzana, Marina, Stanislas, Aurélie, Rémus, Christelle, Duwez, Patricia, Renoult, Julie, Cretet, Justine, Fernandes, Sabrina, Le Mée, Charlotte, Allaf, Bichr, Porquet, Dominique, Munnich, Arnold, Po

Journal:

médecine/sciences

Year:

2018

Language:

french

File:

PDF, 282 KB

french, 2018

3

Infantile and pediatric quinone deficiency diseases

Agnès Rötig, Julie Mollet, Marlène Rio, Arnold Munnich

Journal:

Year:

2007

Language:

english

File:

PDF, 174 KB

english, 2007

4

Finding patients using similarity measures in a rare diseases-oriented clinical data warehouse: Dr. Warehouse and the needle in the needle stack

Garcelon, Nicolas, Neuraz, Antoine, Benoit, Vincent, Salomon, Rémi, Kracker, Sven, Suarez, Felipe, Bahi-Buisson, Nadia, Hadj-Rabia, Smail, Fischer, Alain, Munnich, Arnold, Burgun, Anita

Journal:

Journal of Biomedical Informatics

Year:

2017

File:

PDF, 2.57 MB

2017

5

Genetic heterogeneitiy of Crigler-Najjar syndrome type I: A study of 14 cases

Philippe Labrune, Anne Myara, Michèle Hadchouel, Flavio Ronchi, Olivier Bernard, François Trivin, Namita Roy Chowdhury, Jayanta Roy Chowdhury, Arnold Munnich, Michel Odièvre

Journal:

Year:

1994

Language:

english

File:

PDF, 586 KB

english, 1994

6

Facial anomalies inD-2-hydroxyglutaric aciduria

Amiel, Jeanne, de Lonlay, Pascale, Francannet, Christine, Picard, Alain, Bruel, Henri, Rabier, Daniel, Le Merrer, Martine, Verhoeven, Nanda, Jakobs, Cornelis, Lyonnet, Stanislas, Munnich, Arnold

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 328 KB

english, 1999

7

The Mutant Genotype Is the Main Determinant of the Metabolic Phenotype in Phenylalanine Hydroxylase Deficiency

Paule Bénit, Françoise Rey, Félicienne Blandin-Savoja, Arnold Munnich, Véronique Abadie, Jean Rey

Journal:

Molecular Genetics and Metabolism

Year:

1999

Language:

english

File:

PDF, 67 KB

english, 1999

8

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

Isidor, Bertrand, Julia, Sophie, Saugier-Veber, Pascale, Weil-Dubuc, Paul-Loup, Bézieau, Stéphane, Bieth, Eric, Bonnefont, Jean-Paul, Munnich, Arnold, Bourdeaut, Franck, Bourgain, Catherine, Chassaing

Journal:

European Journal of Human Genetics

Year:

2019

Language:

english

File:

PDF, 595 KB

english, 2019

9

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

10

Biochemical, genetic and immunoblot analyses of 17 patients with an isolated cytochrome c oxidase deficiency

Jürgen-Christoph von Kleist-Retzow, Elodie Vial, Karine Chantrel-Groussard, Agnès Rötig, Arnold Munnich, Pierre Rustin, Jan-Willem Taanman

Journal:

Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease

Year:

1999

Language:

english

File:

PDF, 469 KB

english, 1999

11

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

12

Spatio-temporal expression of FGFR 1, 2 and 3 genes during human embryo-fetal ossification

Anne-Lise Delezoide, Catherine Benoist-Lasselin, Laurence Legeai-Mallet, Martine Le Merrer, Arnold Munnich, Michel Vekemans, Jacky Bonaventure

Journal:

Mechanisms of Development

Year:

1998

Language:

english

File:

PDF, 5.33 MB

english, 1998

13

A novel PCR approach for prenatal detection of the common NEMO rearrangement in incontinentia pigmenti

Julie Steffann, Valérie Raclin, Asmae Smahi, Hayley Woffendin, Arnold Munnich, Sue J. Kenwrick, Anne-Gaelle Grebille, Alexandra Benachi, Yves Dumez, Jean-Paul Bonnefont, Smaïl Hadj-Rabia

Journal:

Prenatal Diagnosis

Year:

2004

Language:

english

File:

PDF, 123 KB

english, 2004

14

Molecular Basis of Mendelian Disorders among Jews

Joël Zlotogora, Gideon Bach, Arnold Munnich

Journal:

Molecular Genetics and Metabolism

Year:

2000

Language:

english

File:

PDF, 76 KB

english, 2000

15

Phenotypic expression of mitochondrial genotypes in cultured skin fibroblasts and in Epstein–Barr virus–transformed lymphocytes in Pearson syndrome

Agnès Rötig, Thomas Bourgeron, Pierre Rustin, Arnold Munnich

Journal:

Year:

1995

Language:

english

File:

PDF, 584 KB

english, 1995

16

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

17

RecurrentKIF5Cmutation leading to frontal pachygyria without microcephaly

Cavallin, Mara, Hubert, Laurence, Cantagrel, Vincent, Munnich, Arnold, Boddaert, Nathalie, Vincent-Delorme, Catherine, Cuvellier, Jean Christophe, Masson, Cecile, Besmond, Claude, Bahi-Buisson, Nadia

Journal:

Year:

2016

Language:

english

File:

PDF, 585 KB

english, 2016

18

Mutations and polymorphisms in the proprotein convertase subtilisin kexin 9 (PCSK9) gene in cholesterol metabolism and disease

Marianne Abifadel, Jean-Pierre Rabès, Martine Devillers, Arnold Munnich, Danièle Erlich, Claudine Junien, Mathilde Varret, Catherine Boileau

Journal:

Year:

2009

Language:

english

File:

PDF, 239 KB

english, 2009

19

Succinate dehydrogenase and human diseases: new insights into a well-known enzyme

Rustin, Pierre, Munnich, Arnold, Rötig, Agnès

Journal:

European Journal of Human Genetics

Year:

2002

Language:

english

File:

PDF, 85 KB

english, 2002

20

PHOX2B Genotype Allows for Prediction of Tumor Risk in Congenital Central Hypoventilation Syndrome

Delphine Trochet, Louise M. O'Brien, David Gozal, Ha Trang, Agneta Nordenskjöld, Béatrice Laudier, Pär-Johan Svensson, Sabine Uhrig, Trevor Cole, Arnold Munnich, Claude Gaultier, Stanislas Lyonnet, Je

Journal:

The American Journal of Human Genetics

Year:

2005

Language:

english

File:

PDF, 597 KB

english, 2005

21

Impact of on-site clinical genetics consultations on diagnostic rate in children and young adults with autism spectrum disorder

Munnich, Arnold, Demily, Caroline, Frugère, Lisa, Duwime, Charlyne, Malan, Valérie, Barcia, Giulia, Vidal, Céline, Throo, Emeline, Besmond, Claude, Hubert, Laurence, Roland-Manuel, Gilles, Malen, Jean

Journal:

Molecular Autism

Year:

2019

Language:

english

File:

PDF, 596 KB

english, 2019

22

Iron redistribution as a therapeutic strategy for treating diseases of localized iron accumulationThis review is one of a selection of papers published in a Special Issue on Oxidative Stress in Health and Disease.

Kakhlon, Or, Breuer, William, Munnich, Arnold, Cabantchik, Z. Ioav

Journal:

Canadian Journal of Physiology and Pharmacology

Year:

2010

Language:

english

File:

PDF, 175 KB

english, 2010

23

Spectrum of ABCR gene mutations in autosomal recessive macular dystrophies

Rozet, Jean-Michel, Gerber, Sylvie, Souied, Eric, Perrault, Isabelle, Châtelin, Sophie, Ghazi, Imad, Leowski, Corinne, Dufier, Jean-Louis, Munnich, Arnold, Kaplan, Josseline

Journal:

European Journal of Human Genetics

Year:

1998

Language:

english

File:

PDF, 119 KB

english, 1998

24

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

25

Proportions of spontaneous mutations in males and females with ornithine transcarbamylase deficiency

Dr. Mendel Tuchman, Ichiro Matsuda, Arnold Munnich, Sue Malcolm, Sandra Strautnieks, Trevor Briede

Journal:

American Journal of Medical Genetics Part A

Year:

1995

Language:

english

File:

PDF, 469 KB

english, 1995

26

Coenzyme Q10 and idebenone in the therapy of respiratory chain diseases: rationale and comparative benefits

Vanna Geromel, Niklas Darin, Dominique Chrétien, Paule Bénit, Pascale DeLonlay, Agnès Rötig, Arnold Munnich, Pierre Rustin

Journal:

Molecular Genetics and Metabolism

Year:

2002

Language:

english

File:

PDF, 473 KB

english, 2002

27

Prévenir la transmission des mutations de l’ADN mitochondrial : mythe ou réalité ?

Steffann, Julie, Monnot, Sophie, Rotig, Agnès, Munnich, Arnold, Bonnefont, Jean-Paul

Journal:

médecine/sciences

Year:

2010

Language:

french

File:

PDF, 70 KB

french, 2010

28

Intérêt de l’ASL en neuropédiatrie

Boddaert, Nathalie, Grévent, David, Dangouloff-Ros, Volodia, Calmon, Raphael, Zilbovicius, Monica, Blauwmblomme, Thomas, Puget, Stéphanie, Sainte-Rose, Christian, Munnich, Arnold, Varlet, Pascale, Bru

Journal:

Journal of Neuroradiology

Year:

2016

Language:

french

File:

PDF, 49 KB

french, 2016

29

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

30

Partial duplication [dup. TCAC (178)] and novel point mutations (T125M, G188R, A209V, and H302L) of the ornithine transcarbamylase gene in congenital hyperammonemia

Brigitte Gilbert-Dussardier, Bertrand Segues, Jean-Michel Rozet, Daniel Rabier, Patrick Calvas, Lionel de Lumley, Jean-Paul Bonnefond, Arnold Munnich

Journal:

Year:

1996

Language:

english

File:

PDF, 308 KB

english, 1996

31

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

32

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

33

In vitro readthrough of termination codons by gentamycin in the Stüve–Wiedemann Syndrome

Bellais, Samuel, Le Goff, Carine, Dagoneau, Nathalie, Munnich, Arnold, Quarrell, Oliver

Journal:

European Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 160 KB

english, 2009

34

Aconitase and mitochondrial iron–sulphur protein deficiency in Friedreich ataxia

Rötig, Agnès, de Lonlay, Pascale, Chretien, Dominique, Foury, Françoise, Koenig, Michel, Sidi, Daniel, Munnich, Arnold, Rustin, Pierre

Journal:

Nature Genetics

Year:

1997

File:

PDF, 345 KB

1997

35

The effects of common bile duct ligation upon the rat liver β-adrenergic receptor-adenylate cyclase system

Paul-Henry Schmelck, Marie-Claude Billon, Arnold Munnich, Philippe Geynet, Didier Houssin, Jacques Hanoune

Journal:

Year:

1979

Language:

english

File:

PDF, 449 KB

english, 1979

36

Delayed bone age due to a dual effect of FGFR3 mutation in Achondroplasia

Stéphanie Pannier, Emilie Mugniery, Aurélie Jonquoy, Catherine Benoist-Lasselin, Thierry Odent, Jean-Philippe Jais, Arnold Munnich, Laurence Legeai-Mallet

Journal:

Year:

2010

Language:

english

File:

PDF, 2.66 MB

english, 2010

37

Age-related macular degeneration in grandparents of patients with Stargardt disease: genetic study

Eric H Souied, Dominique Ducroq, Sylvie Gerber, Imad Ghazi, Jean-Michel Rozet, Isabelle Perrault, Arnold Munnich, Jean Louis Dufier, Gabriel Coscas, Gisèle Soubrane, Josseline Kaplan

Journal:

American Journal of Ophthalmology

Year:

1999

Language:

english

File:

PDF, 673 KB

english, 1999

38

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

39

Endomyocardial biopsies for early detection of mitochondrial disorders in hypertrophic cardiomyopathies

Pierre Rustin, Jerôme Lebidois, Dominique Chretien, Thomas Bourgeron, Jean-François Piechaud, Agnès Rötig, Arnold Munnich, Daniel Sidi

Journal:

The Journal of Pediatrics

Year:

1994

Language:

english

File:

PDF, 730 KB

english, 1994

40

Effect of idebenone on cardiomyopathy in Friedreich's ataxia: a preliminary study

Pierre Rustin, Jürgen-Christoph von Kleist-Retzow, Karine Chantrel-Groussard, Daniel Sidi, Arnold Munnich, Agnès Rötig

Journal:

Year:

1999

Language:

english

File:

PDF, 67 KB

english, 1999

41

Molecular insights into Friedreich's ataxia and antioxidant-based therapies

Agnès Rötig, Daniel Sidi, Arnold Munnich, Pierre Rustin

Journal:

Trends in Molecular Medicine

Year:

2002

Language:

english

File:

PDF, 117 KB

english, 2002

42

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

43

Germline Mutations of the Paired–Like Homeobox 2B (PHOX2B) Gene in Neuroblastoma

Delphine Trochet, Franck Bourdeaut, Isabelle Janoueix-Lerosey, Anne Deville, Loïc de Pontual, Gudrun Schleiermacher, Carole Coze, Nicole Philip, Thierry Frébourg, Arnold Munnich, Stanislas Lyonnet, Ol

Journal:

The American Journal of Human Genetics

Year:

2004

Language:

english

File:

PDF, 140 KB

english, 2004

44

Mitochondrial respiratory chain defect: a new etiology for neonatalcholestasis and early liver insufficiency

Isabel Goncalves, Dominique Hermans, Dominique Chretien, Pierre Rustin, Arnold Munnich, Jean Marie Saudubray, François Van Hoof, Raymond Reding, Jean de Ville de Goyet, Jean Bernard Otte, Jean Paul Bu

Journal:

Journal of Hepatology

Year:

1995

Language:

english

File:

PDF, 706 KB

english, 1995

45

Claudin-1 gene mutations in neonatal sclerosing cholangitis associated with ichthyosis: A tight junction disease

Smail Hadj-Rabia, Lekbir Baala, Pierre Vabres, Dominique Hamel-Teillac, Emmanuel Jacquemin, Monique Fabre, Stanislas Lyonnet, Yves de Prost, Arnold Munnich, Michelle Hadchouel, Asma Smahi

Journal:

Gastroenterology

Year:

2004

Language:

english

File:

PDF, 271 KB

english, 2004

46

A clinician friendly data warehouse oriented toward narrative reports: Dr Warehouse

Garcelon, Nicolas, Neuraz, Antoine, Salomon, Rémi, Faour, Hassan, Benoit, Vincent, Delapalme, Arthur, Munnich, Arnold, Burgun, Anita, Rance, Bastien

Journal:

Journal of Biomedical Informatics

Year:

2018

Language:

english

File:

PDF, 1.86 MB

english, 2018

47

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

48

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

49

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

50

Prenatal exclusion of X-linked hydrocephalus-stenosis of the aqueduct of sylvius sequence using closely linked DNA markers

Françoise Serville, Paule Benit, Pascale Saugier, Mireille Vibert, Ghislaine Royer, Anna Pelet, Michèle Chery, Arnold Munnich, Stanislas Lyonnet

Journal:

Prenatal Diagnosis

Year:

1993

Language:

english

File:

PDF, 333 KB

english, 1993

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