Search Results - "Rivier-Ringenbach C"

Whole-exome sequencing improves the diagnosis yield in sporadic infantile spasm syndrome.

Authors: Dimassi, S. Labalme, A. Ville, D. et al.

Source: Clinical Genetics. Feb2016, Vol. 89 Issue 2, p198-204. 6p. 2 Black and White Photographs, 1 Chart.

Bi-allelic pathogenic variants in TRMT1 disrupt tRNA modification and induce a neurodevelopmental disorder.

Authors: Efthymiou S Leo CP Deng C et al.

Source: American journal of human genetics [Am J Hum Genet] 2025 May 01; Vol. 112 (5), pp. 1117-1138. Date of Electronic Publication: 2025 Apr 16.

Publication Type: Journal Article; Research Support, N.I.H., Extramural

Journal Info: Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE

GRM7-related disorder: five additional patients from three independent families and review of the literature.

Authors: Januel L Chatron N Rivier-Ringenbach C et al.

Source: European journal of medical genetics [Eur J Med Genet] 2024 Feb; Vol. 67, pp. 104893. Date of Electronic Publication: 2023 Dec 08.

Publication Type: Review; Case Reports; Journal Article

Journal Info: Publisher: Elsevier Country of Publication: Netherlands NLM ID: 101247089 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1878-0849 (Electronic) Linking ISSN: 17697212 NLM ISO Abbreviation: Eur J Med Genet Subsets: MEDLINE

Autosomal recessive primary microcephaly due to ASPM mutations: An update.

Authors: Létard P Drunat S Vial Y et al.

Source: Human mutation [Hum Mutat] 2018 Mar; Vol. 39 (3), pp. 319-332. Date of Electronic Publication: 2018 Jan 16.

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9215429 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1098-1004 (Electronic) Linking ISSN: 10597794 NLM ISO Abbreviation: Hum Mutat Subsets: MEDLINE

Gain of function due to increased opening probability by two KCNQ5 pore variants causing developmental and epileptic encephalopathy.

Authors: Nappi M Barrese V Carotenuto L et al.

Source: Proceedings of the National Academy of Sciences of the United States of America [Proc Natl Acad Sci U S A] 2022 Apr 12; Vol. 119 (15), pp. e2116887119. Date of Electronic Publication: 2022 Apr 04.

Publication Type: Case Reports; Journal Article

Journal Info: Publisher: National Academy of Sciences Country of Publication: United States NLM ID: 7505876 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1091-6490 (Electronic) Linking ISSN: 00278424 NLM ISO Abbreviation: Proc Natl Acad Sci U S A Subsets: MEDLINE

Mechanisms for variable expressivity of inherited SCN1A mutations causing Dravet syndrome.

Authors: Depienne C Trouillard O Gourfinkel-An I et al.

Source: Journal of medical genetics [J Med Genet] 2010 Jun; Vol. 47 (6), pp. 404-10.

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

Journal Info: Publisher: British Medical Association Country of Publication: England NLM ID: 2985087R Publication Model: Print Cited Medium: Internet ISSN: 1468-6244 (Electronic) Linking ISSN: 00222593 NLM ISO Abbreviation: J Med Genet Subsets: MEDLINE