Arnold Munnich

发表

A mutation in the human heme A:farnesyltransferase gene (COX10 ) causes cytochrome c oxidase deficiency.

A. Munnich, P. Rustin, A. Rötig, 2000, Human molecular genetics.

Biochemical and molecular investigations in respiratory chain deficiencies.

T. Bourgeron, A. Munnich, P. Rustin, 1994, Clinica chimica acta; international journal of clinical chemistry.

Survival of male patients with incontinentia pigmenti carrying a lethal mutation can be explained by somatic mosaicism or Klinefelter syndrome.

L. Shaffer, T. Esposito, M. D'urso, 2001, American journal of human genetics.

A newly identified locus for Usher syndrome type I, USH1E, maps to chromosome 21q21.

J. Weissenbach, A. Munnich, H. Chaib, 1997, Human molecular genetics.

Human Mutation

Anne de Saint Martin, I. Scheffer, H. Mefford, 2019 .

Mutation of the endothelin-receptor B gene in Waardenburg-Hirschsprung disease.

A. Munnich, S. Lyonnet, J. Amiel, 1995, Human molecular genetics.

In frame fibrillin-1 gene deletion in autosomal dominant Weill-Marchesani syndrome

A. Munnich, R. Gorlin, G. Collod-Béroud, 2003, Journal of medical genetics.

Heterozygous endothelin receptor B (EDNRB) mutations in isolated Hirschsprung disease.

P. Tam, A. Munnich, D. Lacombe, 1996, Human molecular genetics.

Deletion of mitochondrial DNA in a case of early-onset diabetes mellitus, optic atrophy, and deafness (Wolfram syndrome, MIM 222300).

A. Munnich, P. Rustin, A. Rötig, 1993, The Journal of clinical investigation.

Myosin VIIA gene: heterogeneity of the mutations responsible for Usher syndrome type IB.

K. Steel, A. Munnich, C. Petit, 1997, Human molecular genetics.

Multiple pathogenic and benign genomic rearrangements occur at a 35 kb duplication involving the NEMO and LAGE2 genes.

A. Ciccodicola, T. Esposito, M. D'urso, 2001, Human molecular genetics.

Leber congenital amaurosis.

A. Munnich, E. Souied, J. Dufier, 1999, Molecular genetics and metabolism.

Different functional outcome of RetGC1 and RPE65 gene mutations in Leber congenital amaurosis.

A. Munnich, E. Souied, J. Dufier, 1999, American journal of human genetics.

Upper limb malformations in DiGeorge syndrome.

A. Munnich, L. Iserin, S. Lyonnet, 1995, American journal of medical genetics.

Absence of learning difficulties in a hyperactive boy with a terminal Xp deletion encompassing the MRX49locus

R. Chadwick, A. de la Chapelle, R. Pyatt, 2001, Journal of medical genetics.

Iron redistribution as a therapeutic strategy for treating diseases of localized iron accumulation.

A. Munnich, Z. Cabantchik, O. Kakhlon, 2010, Canadian journal of physiology and pharmacology.

Phenotype and genotype in 101 males with X-linked creatine transporter deficiency

A. Munnich, C. Schwartz, P. Pouwels, 2013, Journal of Medical Genetics.

Posterior fossa imaging in 158 children with ataxia.

A. Munnich, M. Zilbovicius, D. Seidenwurm, 2010, Journal of neuroradiology. Journal de neuroradiologie.

Highly conserved non-coding elements on either side of SOX9 associated with Pierre Robin sequence

A. Munnich, H. R. Crollius, D. McBride, 2009, Nature Genetics.

Clinical aspects of mitochondrial disorders

A. Munnich, P. Rustin, A. Rötig, 1992, Journal of Inherited Metabolic Disease.

A genome wide scan for familial high myopia suggests a novel locus on chromosome 7q36

O. Rascol, R. Winter, P. Calvas, 2002, Journal of medical genetics.

Diverse phenotypes associated with exon 10 mutations of the RET proto-oncogene.

L. Mulligan, C. Eng, D. Marsh, 1994, Human molecular genetics.

Stability of the m.8993T→G mtDNA mutation load during human embryofetal development has implications for the feasibility of prenatal diagnosis in NARP syndrome

A. Munnich, R. Frydman, J. Steffann, 2007, Journal of Medical Genetics.

Inborn errors of the Krebs cycle: a group of unusual mitochondrial diseases in human.

T. Bourgeron, A. Munnich, P. Rustin, 1997, Biochimica et biophysica acta.

Human trifunctional protein deficiency: a new disorder of mitochondrial fatty acid beta-oxidation.

A. Munnich, R. Wanders, D. Rabier, 1992, Biochemical and biophysical research communications.

Deletion of the SIM1 gene (6q16.2) in a patient with a Prader-Willi-like phenotype

A. Munnich, L. Faivre, S. Jacquemont, 2002, Journal of medical genetics.

Relation of genotype 22q11 deletion to phenotype of pulmonary vessels in tetralogy of Fallot and pulmonary atresia–ventricular septal defect

A. Munnich, P. Bonhoeffer, L. Iserin, 1998, Heart.

Wide clinical variability among 13 new Cockayne syndrome cases confirmed by biochemical assays

A. Munnich, P. Rustin, L. Pasquier, 2005, Archives of Disease in Childhood.

Recurrent de novo mitochondrial DNA mutations in respiratory chain deficiency

P. Bénit, A. Munnich, L. Hertz-Pannier, 2003, Journal of medical genetics.

The mitochondrial DNA G13513A MELAS mutation in the NADH dehydrogenase 5 gene is a frequent cause of Leigh-like syndrome with isolated complex I deficiency

P. Bénit, A. Munnich, L. Hertz-Pannier, 2003, Journal of medical genetics.

Fate and expression of the deleted mitochondrial DNA differ between human heteroplasmic skin fibroblast and Epstein-Barr virus-transformed lymphocyte cultures.

T. Bourgeron, A. Munnich, P. Rustin, 1993, The Journal of biological chemistry.

Phenotypic spectrum of CHARGE syndrome in fetuses with CHD7 truncating mutations correlates with expression during human development

J. Weissenbach, A. Munnich, C. Cruaud, 2005, Journal of Medical Genetics.

Diversity of RET proto-oncogene mutations in familial and sporadic Hirschsprung disease.

A. Munnich, L. Mulligan, C. Eng, 1995, Human molecular genetics.

Molecular analysis of pericentrin gene (PCNT) in a series of 24 Seckel/microcephalic osteodysplastic primordial dwarfism type II (MOPD II) families

A. Munnich, C. Farra, A. Verloes, 2009, Journal of Medical Genetics.

The fasting test in paediatrics: Application to the diagnosis of pathological hypo- and hyperketotic states

A. Munnich, J. Saudubray, A. Lombès, 1990, European Journal of Pediatrics.

A gene for Hirschsprung disease maps to the proximal long arm of chromosome 10

J. Weissenbach, A. Munnich, M. Devoto, 1993, Nature Genetics.

A PCSK9 variant and familial combined hyperlipidaemia

L. Bernier, A. Munnich, C. Boileau, 2008, Journal of Medical Genetics.

3-Methylglutaconic aciduria associated with Pearson syndrome and respiratory chain defects.

A. Munnich, A. Rötig, K. Gibson, 1992, The Journal of pediatrics.

Autosomal dominant deletions of the mitochondrial genome in a case of progressive encephalomyopathy.

A. Munnich, A. Rotig, M. Tardieu, 1991, American journal of human genetics.

Maternally inherited duplication of the mitochondrial genome in a syndrome of proximal tubulopathy, diabetes mellitus, and cerebellar ataxia.

A. Munnich, P. Rustin, A. Rötig, 1992, American journal of human genetics.

Widespread multi-tissue deletions of the mitochondrial genome in the Pearson marrow-pancreas syndrome.

A. Munnich, A. Rötig, J. Saudubray, 1990, The Journal of pediatrics.

Mutation of the RET ligand, neurturin, supports multigenic inheritance in Hirschsprung disease.

A. Munnich, R. Touraine, R. Salomon, 1998, Human molecular genetics.

A common pattern of brain MRI imaging in mitochondrial diseases with complex I deficiency

A. Munnich, D. Galanaud, N. Boddaert, 2010, Journal of Medical Genetics.

Disabled early recruitment of antioxidant defenses in Friedreich's ataxia.

A. Munnich, M. Koenig, P. Rustin, 2001, Human molecular genetics.

The gene for X-linked hydrocephalus maps to Xq28, distal to DXS52.

C. Dubay, S. Lyonnet, A. Pelet, 1992, Genomics.

The neurogenic weakness, ataxia and retinitis pigmentosa (NARP) syndrome mtDNA mutation (T8993G) triggers muscle ATPase deficiency and hypocitrullinaemia

A. Munnich, P. Rustin, A. Rötig, 1999, European Journal of Pediatrics.

Allelic heterogeneity of SMARD1 at the IGHMBP2 locus

A. Munnich, J. Melki, L. Viollet, 2004, Human mutation.

Embryonic expression of the human MID1 gene and its mutations in Opitz syndrome

A. Munnich, G. Meroni, D. Lacombe, 2004, Journal of Medical Genetics.

Acromicric dysplasia: long term outcome and evidence of autosomal dominant inheritance

E. Zackai, A. Munnich, M. Polak, 2001, Journal of medical genetics.

Spectrum of mitochondrial DNA rearrangements in the Pearson marrow-pancreas syndrome.

T. Bourgeron, A. Munnich, P. Rustin, 1995, Human molecular genetics.

â 1-adrenergic antagonists improve sleep and behavioural disturbances in a circadian disorder , Smith-Magenis syndrome

A. Munnich, M. Vekemans, D. Sidi, 2001 .

Structure and organization of the human survival motor neurone (SMN) gene.

A. Munnich, J. Melki, C. Cruaud, 1996, Genomics.

Genotype-phenotype correlation in hereditary multiple exostoses

A. Munnich, J. Bonaventure, L. Legeai-Mallet, 2001, Journal of medical genetics.

Mutations of the RET-GDNF signaling pathway in Ondine's curse.

A. Munnich, R. Salomon, S. Lyonnet, 1998, American journal of human genetics.

De novo deletions in spinal muscular atrophy: implications for genetic counselling.

J. Melki, L. Bürglen, L. Burglen, 1997, Journal of medical genetics.

Mutations of the SCO1 gene in mitochondrial cytochrome c oxidase deficiency with neonatal-onset hepatic failure and encephalopathy.

A. Munnich, P. Rustin, A. Rötig, 2000, American journal of human genetics.

A 7 bp deletion of the RET proto-oncogene in familial Hirschsprung's disease.

B. Ponder, A. Munnich, L. Mulligan, 1994, Human molecular genetics.

A constant and similar assembly defect of mitochondrial respiratory chain complex I allows rapid identification of NDUFS4 mutations in patients with Leigh syndrome.

A. Munnich, A. Rötig, C. Guillermet, 2012, Biochimica et biophysica acta.

Mitochondrial DNA rearrangements with onset as chronic diarrhea with villous atrophy.

A. Munnich, P. Rustin, A. Rötig, 1994, The Journal of pediatrics.

Diet-responsive proconvertin (factor VII) deficiency in homocystinuria.

A. Munnich, J. Frézal, P. Parvy, 1983, The Journal of pediatrics.

Automated fluorescent genotyping detects 10% of cryptic subtelomeric rearrangements in idiopathic syndromic mental retardation

A. Munnich, S. Lyonnet, M. Vekemans, 2002, Journal of medical genetics.

Large-scale deletions and SMADIP1 truncating mutations in syndromic Hirschsprung disease with involvement of midline structures.

A. Munnich, R. Touraine, A. Toutain, 2001, American journal of human genetics.

Idebenone and reduced cardiac hypertrophy in Friedreich's ataxia

A. Munnich, P. Rustin, A. Rötig, 2002, Heart.

Prenatal detection of a 1p36 deletion in a fetus with multiple malformations and a review of the literature

A. Munnich, L. Faivre, M. Vekemans, 1999, Prenatal diagnosis.

Clinical presentation of mitochondrial disorders in childhood

T. Bourgeron, A. Munnich, P. Rustin, 1996, Journal of Inherited Metabolic Disease.

A gene for X-linked idiopathic congenital nystagmus (NYS1) maps to chromosome Xp11.4-p11.3.

A. Smahi, A. Munnich, E. Souied, 1999, American journal of human genetics.

Compound heterozygous mutations in the flavoprotein gene of the respiratory chain complex II in a patient with Leigh syndrome

A. Munnich, P. Rustin, A. Rötig, 2000, Human Genetics.

Biotin-responsive immunoregulatory dysfunction in multiple carboxylase deficiency

A. Munnich, C. Griscelli, J. Frézal, 2004, Journal of Clinical Immunology.

Apparent genetic homogeneity of the Treacher Collins-Franceschetti syndrome.

A. Munnich, A. Vignal, S. Lyonnet, 1994, American journal of medical genetics.

19q13.11 deletion syndrome: a novel clinically recognisable genetic condition identified by array comparative genomic hybridisation

C Turleau, L Colleaux, M Vekemans, 2009, Journal of Medical Genetics.

CONGENITAL LACTIC ACIDOSIS, α‐KETOGLUTARIC ACIDURIA AND VARIANT FORM OF MAPLE SYRUP URINE DISEASE DUE TO A SINGLE ENZYME DEFECT: DIHYDROLIPOYL DEHYDROGENASE DEFICIENCY

A. Munnich, J. Frézal, F. Rocchiccioli, 1982, Acta paediatrica Scandinavica.

Molecular genetics of phenylketonuria in Mediterranean countries: a mutation associated with partial phenylalanine hydroxylase deficiency.

A. Munnich, S. Lyonnet, J. Frézal, 1989, American journal of human genetics.

Deletion of the SIM1 gene (6q16.2) in a patient with a Prader-Willi-like phenotype

L. Faivre, S. Jacquemont, M. Vekemans, 2002, Journal of medical genetics.

Endomyocardial biopsies for early detection of mitochondrial disorders in hypertrophic cardiomyopathies.

T. Bourgeron, A. Munnich, P. Rustin, 1994, The Journal of pediatrics.

CEREBELLAR ATAXIA

P. Rustin, A. Rotig, J. Saudubray, 2006 .

Biotin dependent carboxylase activities in normal human and multicarboxylase deficient patient fibroblasts: relationship to the biotin content of the culture medium.

A. Munnich, J. Saudubray, F. Coudé, 1983, Clinica chimica acta; international journal of clinical chemistry.

Large scale deletions of the 5q13 region are specific to Werdnig-Hoffmann disease.

A. Munnich, J. Melki, S. Lefebvre, 1996, Journal of medical genetics.

Efficiency of metabolic screening in childhood cardiomyopathies.

P. Rustin, A. Rötig, I. Gautier, 1998, European heart journal.

Recurrent de novo mitochondrial DNA mutations in respiratory chain deficiency

L. Hertz-Pannier, P. Rustin, A. Rötig, 2003, Journal of medical genetics.

Segregation analysis in nonsyndromic holoprosencephaly.

A. Munnich, C. Bonaïti‐pellié, S. Odent, 1998, American journal of medical genetics.

Presentation of six cases of Stüve-Wiedemann syndrome

A. Munnich, P. Rustin, S. Lyonnet, 1998, Pediatric Radiology.

An improved spectrophotometric assay of pyruvate dehydrogenase in lactate dehydrogenase contaminated mitochondrial preparations from human skeletal muscle.

T. Bourgeron, A. Munnich, P. Rustin, 1995, Clinica chimica acta; international journal of clinical chemistry.

A common pattern of brain MRI imaging in mitochondrial diseases with complex I deficiency

D. Galanaud, N. Boddaert, A. Rötig, 2010, Journal of Medical Genetics.

Both recessive and dominant forms of anhidrotic/hypohidrotic ectodermal dysplasia map to chromosome 2q11-q13.

A. Munnich, S. Lyonnet, J. Zlotogora, 1999, American Journal of Human Genetics.