Clark-Baraitser syndrome is associated with a nonsense alteration in the autosomal gene TRIP12.

Autor: Louie RJ; J.C. Self Research Institute of Human Genetics, Greenwood Genetic Center, Greenwood, South Carolina., Friez MJ; J.C. Self Research Institute of Human Genetics, Greenwood Genetic Center, Greenwood, South Carolina., Skinner C; J.C. Self Research Institute of Human Genetics, Greenwood Genetic Center, Greenwood, South Carolina., Baraitser M; Department of Clinical Genetics, Hospital for Sick Children, London, UK., Clark RD; Division of Medical Genetics, Loma Linda University School of Medicine, Loma Linda, California., Schwartz CE; J.C. Self Research Institute of Human Genetics, Greenwood Genetic Center, Greenwood, South Carolina., Stevenson RE; J.C. Self Research Institute of Human Genetics, Greenwood Genetic Center, Greenwood, South Carolina.

Publikováno v: American journal of medical genetics. Part A [Am J Med Genet A] 2020 Mar; Vol. 182 (3), pp. 595-596. Date of Electronic Publication: 2019 Dec 08.

Effect Of Genetic Counselling On The Prevalence Of Huntington's Chorea [With Reply]

Autor: Tay, John S. H., Yip, William C. L., Carter, C. O., Baraitser, M.

Publikováno v: British Medical Journal (Clinical Research Edition), 1983 Apr 01. 286(6371), 1149-1149.

Externí odkaz: https://www.jstor.org/stable/29510438

Three patients with the osteochondrodysplasia and hypertrichosis syndrome - Cantu syndrome

Autor: Baraitser M, C. M. Hall, Peter E. Clayton, Jane A. Hurst, James V. Leonard, H Kaariainen, Elisabeth Rosser

Publikováno v: Clinical Dysmorphology. 7:79-85

Cantu syndrome is a rare condition whose main features are hypertrichosis, cardiac anomalies and wide ribs. Four children have been described and we now present details of a further three. The parents of one of these are first cousins, adding weight

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6862eb4cbc8eb04306f3c3d65050bf01
https://doi.org/10.1097/00019605-199804000-00001

Mechanisms of Germline Stem Cell Competition across Species.

Autor: Hodge, Rachel A.¹ (AUTHOR) rachel.hodge@nyulangone.org, Bach, Erika A.¹ (AUTHOR) erika.bach@nyu.edu

Publikováno v: Life (2075-1729). Oct2024, Vol. 14 Issue 10, p1251. 28p.

Overview of Neuro-Ophthalmic Findings in Leukodystrophies.

Autor: Bettinger, Charlotte Maria¹ (AUTHOR) charlotte.bettinger@t-online.de, Dulz, Simon² (AUTHOR), Atiskova, Yevgeniya² (AUTHOR), Guerreiro, Helena³ (AUTHOR) h.desousa@uke.de, Schön, Gerhard⁴ (AUTHOR) g.schoen@uke.de, Guder, Philipp¹ (AUTHOR) p.guder@web.de, Maier, Sarah Lena¹ (AUTHOR) sarah.lena.maier@gmail.com, Denecke, Jonas¹ (AUTHOR) j.denecke@uke.de, Bley, Annette E.¹ (AUTHOR) abley@uke.de

Publikováno v: Journal of Clinical Medicine. Sep2024, Vol. 13 Issue 17, p5114. 22p.