CHILD syndrome: the NSDHL gene and its role in CHILD syndrome, a rare hereditary disorder

Autor: AP Asvesti, R Happle, KH Grzeschik, Georgia Avgerinou, Andreas Katsambas, E. Christofidou, V. Nikolaou

Publikováno v: Journal of the European Academy of Dermatology and Venereology. 24:733-736

Background CHILD syndrome, a rare hereditary disorder of keratinization (MIM 308050, 300275), is the acronym proposed by Happle to name a rare entity, characterized by congenital hemidysplasia, icthyosiform nevus and limb defects, ranging from digita

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::2894f822a1204b409ecbce1891c6f38a
https://doi.org/10.1111/j.1468-3083.2009.03483.x

Further evidence for the dispersion of the human fibrillar collagen genes

Autor: cecile Jeanpierre, Mg, Mattei, Weil D, Kh, Grzeschik, Ml, Chu, Fo, Sangiorgi, Me, Sobel, Ramirez F, Junien C

Publikováno v: Europe PubMed Central

Recombinant DNA probes specific for the human pro alpha 1(II) and pro alpha 1(III) collagen chains have been used for the chromosomal localization of the two genes. Restriction endonuclease analysis of DNA from human-rodent hybrid cell lines in conju

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::69888b3b817aac891ac8f434e8892b37
http://europepmc.org/abstract/med/3004202

A simple method for characterising syndactyly in clinical practice

Autor: Sajid Malik, Ahmad W, Kh, Grzeschik, Mc, Koch

Publikováno v: Europe PubMed Central

Non-syndromic syndactyly is a heterogeneous group of limb malformations involving webbing of fingers and/or toes. There are at least nine non-syndromic types described in the literature. For the clinician and the genetic counsellor not having gathere

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::c06ccffbd408fc96f1197f8fd32984a0
http://europepmc.org/abstract/med/16261692

Mutations in SREBF1, Encoding Sterol Regulatory Element Binding Transcription Factor 1, Cause Autosomal-Dominant IFAP Syndrome.

Autor: Wang H; Department of Dermatology, Peking University First Hospital, Beijing Key Laboratory of Molecular Diagnosis on Dermatoses, National Clinical Research Center for Skin and Immune Diseases, Beijing 100034, China., Humbatova A; Institute of Human Genetics, University of Bonn, Medical Faculty & University Hospital Bonn, 53127 Bonn, Germany., Liu Y; Department of Dermatology, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing 100045, China., Qin W; Department of Dermatology, Peking University First Hospital, Beijing Key Laboratory of Molecular Diagnosis on Dermatoses, National Clinical Research Center for Skin and Immune Diseases, Beijing 100034, China., Lee M; Department of Dermatology, Peking University First Hospital, Beijing Key Laboratory of Molecular Diagnosis on Dermatoses, National Clinical Research Center for Skin and Immune Diseases, Beijing 100034, China., Cesarato N; Institute of Human Genetics, University of Bonn, Medical Faculty & University Hospital Bonn, 53127 Bonn, Germany., Kortüm F; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany., Kumar S; Institute of Human Genetics, University of Bonn, Medical Faculty & University Hospital Bonn, 53127 Bonn, Germany., Romano MT; Institute of Human Genetics, University of Bonn, Medical Faculty & University Hospital Bonn, 53127 Bonn, Germany., Dai S; Department of Dermatology, Peking University First Hospital, Beijing Key Laboratory of Molecular Diagnosis on Dermatoses, National Clinical Research Center for Skin and Immune Diseases, Beijing 100034, China., Mo R; Department of Dermatology, Peking University First Hospital, Beijing Key Laboratory of Molecular Diagnosis on Dermatoses, National Clinical Research Center for Skin and Immune Diseases, Beijing 100034, China., Sivalingam S; Institute for Medical Biometry, Informatics and Epidemiology, University of Bonn, Medical Faculty, 53127 Bonn, Germany; Institute for Genomic Statistics and Bioinformatics, University of Bonn, Medical Faculty, 53127 Bonn, Germany., Motameny S; Cologne Center for Genomics, University of Cologne, 50931 Cologne, Germany., Wu Y; Department of Ophthalmology, Peking University First Hospital, Beijing 100034, China., Wang X; Department of Dermatology, The Second Affiliated Hospital of Xi'an Jiaotong University, Xi'an 710004, China., Niu X; Department of Dermatology, The Second Affiliated Hospital of Xi'an Jiaotong University, Xi'an 710004, China., Geng S; Department of Dermatology, The Second Affiliated Hospital of Xi'an Jiaotong University, Xi'an 710004, China., Bornholdt D; Centre for Human Genetics, University of Marburg, 35033 Marburg, Germany., Kroisel PM; Institute of Human Genetics, Medical University of Graz, 8010 Graz, Austria., Tadini G; Pediatric Dermatology Unit, Department of Pathophysiology and Transplantation, Fondazione IRCCS Ca' Granda - Ospedale Maggiore Policlinico, University of Milan, Milan, Italy., Walter SD; Retina Consultants, P.C., 43 Woodland Street, Suite 100, Hartford, CT 06105, USA., Hauck F; Department of Pediatrics, University Hospital Carl Gustav Carus, TU Dresden, 01307 Dresden, Germany; Department of Pediatrics, Dr. von Hauner Children's Hospital, University Hospital, Ludwig-Maximilians-Universität München, Munich, Germany., Girisha KM; Department of Medical Genetics, Kasturba Medical College, Manipal Academy of Higher Education, Manipal, Karnataka, India., Calza AM; Department of Dermatology and Venereology, Geneva University Hospitals, 1205 Geneva, Switzerland., Bottani A; Service of Genetic Medicine, Geneva University Hospitals, 1205 Geneva, Switzerland., Altmüller J; Cologne Center for Genomics, University of Cologne, 50931 Cologne, Germany., Buness A; Institute for Medical Biometry, Informatics and Epidemiology, University of Bonn, Medical Faculty, 53127 Bonn, Germany; Institute for Genomic Statistics and Bioinformatics, University of Bonn, Medical Faculty, 53127 Bonn, Germany., Yang S; Department of Dermatology, Peking University First Hospital, Beijing Key Laboratory of Molecular Diagnosis on Dermatoses, National Clinical Research Center for Skin and Immune Diseases, Beijing 100034, China., Sun X; Department of Dermatology, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing 100045, China., Ma L; Department of Dermatology, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing 100045, China., Kutsche K; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany., Grzeschik KH; Centre for Human Genetics, University of Marburg, 35033 Marburg, Germany., Betz RC; Institute of Human Genetics, University of Bonn, Medical Faculty & University Hospital Bonn, 53127 Bonn, Germany. Electronic address: regina.betz@uni-bonn.de., Lin Z; Department of Dermatology, Peking University First Hospital, Beijing Key Laboratory of Molecular Diagnosis on Dermatoses, National Clinical Research Center for Skin and Immune Diseases, Beijing 100034, China. Electronic address: zhimiaolin@bjmu.edu.cn.

Publikováno v: American journal of human genetics [Am J Hum Genet] 2020 Jul 02; Vol. 107 (1), pp. 34-45. Date of Electronic Publication: 2020 Jun 03.

Prenatal diagnosis of focal dermal hypoplasia: Report of three fetuses and review of the literature.

Autor: Mary L; Service de Génétique Médicale, Hôpitaux Universitaires de Strasbourg, Strasbourg, France., Scheidecker S; Laboratoire de Cytogénétique, Hôpitaux Universitaires de Strasbourg, Strasbourg, France., Kohler M; Service de Gynécologie et Obstétrique, Hôpitaux Universitaires de Strasbourg, Strasbourg, France., Lombardi MP; Department of Clinical Genetics, Academisch Medisch Centrum, Amsterdam, The Netherlands., Delezoide AL; Service de Biologie du Développement, Hôpital Robert Debré, Paris, France., Auberger E; Anatomie et Cytologie Pathologiques, Hôpital Simone Veil, Groupement Hospitalier Eaubonne-Montmorency, Montmorency, France., Triau S; Laboratoire de Pathologie Cellulaire et Tissulaire-Fœtopathologie, Centre Hospitalier Universitaire d'Angers, Angers, France., Colin E; Département de Biochimie et Génétique, Centre Hospitalier Universitaire d'Angers, Angers, France., Gerard M; Service de Génétique, Centre Hospitalier Universitaire de Caen, Caen, France., Grzeschik KH; Institut für Allgemeine Humangenetik, Philipps-Universitaet, Marburg, Germany., Dollfus H; Service de Génétique Médicale, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.; Faculté de Médecine de Strasbourg, Strasbourg, France., Antal MC; Faculté de Médecine de Strasbourg, Strasbourg, France.; Hôpitaux Universitaires de Strasbourg, Strasbourg, France.; Fédération de Médecine Translationnelle, Strasbourg, France.

Publikováno v: American journal of medical genetics. Part A [Am J Med Genet A] 2017 Feb; Vol. 173 (2), pp. 479-486. Date of Electronic Publication: 2016 Sep 13.