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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Rare Diseases

Last data update: Sep 27, 2023. (Total: 221476Documents)
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Records 1 - 5 (of 5 Records)

Query Trace: Porencephaly[original query]
The factor V G1691A mutation is a risk for porencephaly: A case-control study.
Annals of neurology 2004 Aug 56 (2): 287-90.
Debus Otfried M, Kosch Andrea, Sträter Ronald, Rossi Rainer, Nowak-Göttl Ulri
COL4A1 mutations in patients with sporadic late-onset intracerebral hemorrhage.
Annals of neurology 2012 Apr 71 (4): 470-7.
Weng Yi-Chinn, Sonni Akshata, Labelle-Dumais Cassandre, de Leau Michelle, Kauffman W Berkeley, Jeanne Marion, Biffi Alessandro, Greenberg Steven M, Rosand Jonathan, Gould Douglas
Phenotypic spectrum of COL4A1 mutations: porencephaly to schizencephaly.
Annals of neurology 2013 Jan 73 (1): 48-57.
Yoneda Yuriko, Haginoya Kazuhiro, Kato Mitsuhiro, Osaka Hitoshi, Yokochi Kenji, Arai Hiroshi, Kakita Akiyoshi, Yamamoto Takamichi, Otsuki Yoshiro, Shimizu Shin-ichi, Wada Takahito, Koyama Norihisa, Mino Yoichi, Kondo Noriko, Takahashi Satoru, Hirabayashi Shinichi, Takanashi Jun-ichi, Okumura Akihisa, Kumagai Toshiyuki, Hirai Satori, Nabetani Makoto, Saitoh Shinji, Hattori Ayako, Yamasaki Mami, Kumakura Akira, Sugo Yoshinobu, Nishiyama Kiyomi, Miyatake Satoko, Tsurusaki Yoshinori, Doi Hiroshi, Miyake Noriko, Matsumoto Naomichi, Saitsu Hiroto
COL4A1 mutations as a potential novel cause of autosomal dominant CAKUT in humans.
Human genetics 2019 6 138 (10): 1105-1115.
Kitzler Thomas M, Schneider Ronen, Kohl Stefan, Kolvenbach Caroline M, Connaughton Dervla M, Dai Rufeng, Mann Nina, Nakayama Makiko, Majmundar Amar J, Wu Chen-Han W, Kari Jameela A, El Desoky Sherif M, Senguttuvan Prabha, Bogdanovic Radovan, Stajic Natasa, Valivullah Zaheer, Lek Monkol, Mane Shrikant, Lifton Richard P, Tasic Velibor, Shril Shirlee, Hildebrandt Friedhe
Prevalence of COL4A1 and COL4A2 mutations in severe fetal multifocal hemorrhagic and/or ischemic cerebral lesions.
Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology 2020 6 57 (5): 783-789.
Maurice P, Guilbaud L, Garel J, Mine M, Dugas A, Friszer S, Maisonneuve E, Moutard M-L, Coste T, Héron D, Tournier-Lasserve E, Garel C, Jouannic J
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