الرئيسية › دليل الباحثين › Arnold Münnich

Arnold Münnich

الانتماء : Hôpital Necker-Enfants Malades · Inserm · Institut Necker Enfants Malades · Assistance Publique – Hôpitaux de Paris · Institut des Maladies Génétiques Imagine

• 23منشورات (انتماء فرنسي)
• 1379مجموع المنشورات
• 83893الاستشهادات
• 144مؤشر h

ORCIDOpenAlex

مجالات البحث

• Genomics and Rare Diseases
• Metabolism and Genetic Disorders
• Mitochondrial Function and Pathology
• Hereditary Neurological Disorders
• Genetics and Neurodevelopmental Disorders

المنشورات (23)

• A recurrent homozygous LMNA missense variant p. Thr528Met causes atypical progeroid syndrome characterized by mandibuloacral dysostosis, severe muscular dystrophy, and skeletal deformities
  2023 · American Journal of Medical Genetics Part A · استُشهد به 2 مرة
• First homozygous large deletion in EDARADD gene associated with a severe form of anhidrotic ectodermal dysplasia
  2018 · Journal of the European Academy of Dermatology and Venereology · استُشهد به 8 مرة
• Refining the phenotype associated with CASC5 mutation
  2015 · Neurogenetics · استُشهد به 23 مرة
• New insights into genotype–phenotype correlation for GLI3 mutations
  2014 · European Journal of Human Genetics · استُشهد به 126 مرة
• Union Makes Strength: A Worldwide Collaborative Genetic and Clinical Study to Provide a Comprehensive Survey of RD3 Mutations and Delineate the Associated Phenotype
  2013 · PLoS ONE · استُشهد به 22 مرة
• Clinical and Genetic Study of Algerian Patients with Spinal Muscular Atrophy
  2013 · Journal of Neurodegenerative Diseases · استُشهد به 6 مرة
• TCTN3 Mutations Cause Mohr-Majewski Syndrome
  2012 · The American Journal of Human Genetics · استُشهد به 134 مرة
• Interleukin-36–Receptor Antagonist Deficiency and Generalized Pustular Psoriasis
  2011 · New England Journal of Medicine · استُشهد به 991 مرة
• Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes
  2010 · Nature Genetics · استُشهد به 282 مرة
• High-throughput sequencing of a 4.1 Mb linkage interval reveals FLVCR2 deletions and mutations in lethal cerebral vasculopathy
  2010 · Human Mutation · استُشهد به 33 مرة
• Multiple sources of metabolic disturbance inETHE1‐related ethylmalonic encephalopathy
  2010 · Journal of Inherited Metabolic Disease · استُشهد به 31 مرة
• CC2D2Amutations in Meckel and Joubert syndromes indicate a genotype-phenotype correlation
  2009 · Human Mutation · استُشهد به 90 مرة
• Compound heterozygous ASPM mutations associated with microcephaly and simplified cortical gyration in a consanguineous Algerian family
  2009 · European Journal of Medical Genetics · استُشهد به 28 مرة
• Homozygous silencing of T-box transcription factor EOMES leads to microcephaly with polymicrogyria and corpus callosum agenesis
  2007 · Nature Genetics · استُشهد به 200 مرة
• Autosomal dominant anhidrotic ectodermal dysplasias at the EDARADD locus
  2007 · Human Mutation · استُشهد به 100 مرة
• Mutations in LCA5 are an uncommon cause of Leber congenital amaurosis (LCA) type II
  2007 · Human Mutation · استُشهد به 31 مرة
• Claudin-1 gene mutations in neonatal sclerosing cholangitis associated with ichthyosis: A tight junction disease
  2004 · Gastroenterology · استُشهد به 426 مرة
• Clinical and genetic heterogeneity in Desbuquois dysplasia
  2004 · American Journal of Medical Genetics Part A · استُشهد به 26 مرة
• Identification of seven novel mutations in theGAN gene
  2003 · Human Mutation · استُشهد به 49 مرة
• Homozygosity Mapping of a Locus for a Novel Syndromic Ichthyosis to Chromosome 3q27–q28
  2002 · Journal of Investigative Dermatology · استُشهد به 67 مرة
• Homozygosity mapping of a Dyggve-Melchior-Clausen syndrome gene to chromosome 18q21.1
  2002 · Journal of Medical Genetics · استُشهد به 24 مرة
• Both Recessive and Dominant Forms of Anhidrotic/Hypohidrotic Ectodermal Dysplasia Map to Chromosome 2q11-q13
  1999 · The American Journal of Human Genetics · استُشهد به 21 مرة
• Multiple molybdoenzyme deficiencies due to an inborn error of molybdenum cofactor metabolism: Two additional cases in a new family
  1983 · Journal of Inherited Metabolic Disease · استُشهد به 15 مرة

مجلات النشر

• Human Mutation × 5
• American Journal of Medical Genetics Part A × 2
• The American Journal of Human Genetics × 2
• Nature Genetics × 2
• Journal of Inherited Metabolic Disease × 2
• Journal of the European Academy of Dermatology and Venereology × 1

المنشورات حسب السنة

• 20231
• 20181
• 20151
• 20141
• 20132
• 20121
• 20111
• 20103
• 20092
• 20073

التعاون العلمي

المؤسسات الشريكة : Université Paris Descartes · Sorbonne Paris Cité · Centre Hospitalier Universitaire de Lille · Université Paris Diderot · University of Sfax

بلدان المؤلفين المشاركين : تونس · المغرب · الولايات المتحدة · ألمانيا

المؤلفون المشاركون

• Stanislas Lyonnet
• Tania Attié‐Bitach
• Smail Hadj-Rabia
• Férechté Encha‐Razavi
• Michel J. J. Vekemans
• J. Roume
• Sophie Thomas
• Nathalie Boddaert
• Lekbir Baala
• Asma Smahi
• Valérie Cormier‐Daire
• Soumaya Mougou-Zerelli

البيانات البيبليوغرافية مصدرها OpenAlex (قاعدة مفتوحة).