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22. Prenatal diagnosis of X-linked hydrocephalus in a family with a novel mutation in L1CAM gene. Ochando I; Vidal V; Gascón J; Acién M; Urbano A; Rueda J J Obstet Gynaecol; 2016; 36(3):403-5. PubMed ID: 26471711 [No Abstract] [Full Text] [Related]
23. Two novel pathogenic variants of L1CAM gene in two fetuses with isolated X‑linked hydrocephaly: A case report. Xie B; Luo J; Lei Y; Yang Q; Li M; Yi S; Luo S; Wang J; Qin Z; Yang Z; Wei H; Fan X Mol Med Rep; 2018 Dec; 18(6):5760-5764. PubMed ID: 30365056 [TBL] [Abstract][Full Text] [Related]
24. Prenatal molecular diagnosis of X-linked hydrocephalus via a silent C924T mutation in the L1CAM gene. Serikawa T; Nishiyama K; Tohyama J; Tazawa R; Goto K; Kuriyama Y; Haino K; Kanemura Y; Yamasaki M; Nakata K; Takakuwa K; Enomoto T Congenit Anom (Kyoto); 2014 Nov; 54(4):243-5. PubMed ID: 25039760 [TBL] [Abstract][Full Text] [Related]
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26. [Diagnosis of a fetus with X-linked hydrocephalus due to mutation of L1CAM gene]. Wu Q; Sun L; Xu Y; Yang X; Sun S; Wang W Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2019 Sep; 36(9):897-900. PubMed ID: 31515785 [TBL] [Abstract][Full Text] [Related]
27. Exome sequencing of two patients in a family with atypical X-linked leukodystrophy. Tsurusaki Y; Okamoto N; Suzuki Y; Doi H; Saitsu H; Miyake N; Matsumoto N Clin Genet; 2011 Aug; 80(2):161-6. PubMed ID: 21644943 [TBL] [Abstract][Full Text] [Related]
28. Analysis of L1CAM gene mutation and imaging appearance in three Chinese families with L1 syndrome: Three case reports. Gao S; Zhao X; Zhao G; Dai P; Kong X Mol Genet Genomic Med; 2022 Sep; 10(9):e2002. PubMed ID: 35791503 [TBL] [Abstract][Full Text] [Related]
29. CRASH syndrome: mutations in L1CAM correlate with severity of the disease. Yamasaki M; Thompson P; Lemmon V Neuropediatrics; 1997 Jun; 28(3):175-8. PubMed ID: 9266556 [TBL] [Abstract][Full Text] [Related]
30. Pathomechanistic characterization of two exonic L1CAM variants located in trans in an obligate carrier of X-linked hydrocephalus. Marx M; Diestel S; Bozon M; Keglowich L; Drouot N; Bouché E; Frebourg T; Minz M; Saugier-Veber P; Castellani V; Schäfer MK Neurogenetics; 2012 Feb; 13(1):49-59. PubMed ID: 22222883 [TBL] [Abstract][Full Text] [Related]
31. [X-linked hydrocephaly. A case report in fetal medicine]. Syrios K; Delbecoue K; Gaillez S; Schaaps JP; Chantraine F Rev Med Liege; 2011 Mar; 66(3):126-9. PubMed ID: 21560427 [TBL] [Abstract][Full Text] [Related]
32. L1CAM mutation in a Japanese family with X-linked hydrocephalus: a study for genetic counseling. Takahashi S; Makita Y; Okamoto N; Miyamoto A; Oki J Brain Dev; 1997 Dec; 19(8):559-62. PubMed ID: 9440802 [TBL] [Abstract][Full Text] [Related]
33. A silent mutation, C924T (G308G), in the L1CAM gene results in X linked hydrocephalus (HSAS). Du YZ; Dickerson C; Aylsworth AS; Schwartz CE J Med Genet; 1998 Jun; 35(6):456-62. PubMed ID: 9643285 [TBL] [Abstract][Full Text] [Related]
34. CRASH syndrome: clinical spectrum of corpus callosum hypoplasia, retardation, adducted thumbs, spastic paraparesis and hydrocephalus due to mutations in one single gene, L1. Fransen E; Lemmon V; Van Camp G; Vits L; Coucke P; Willems PJ Eur J Hum Genet; 1995; 3(5):273-84. PubMed ID: 8556302 [TBL] [Abstract][Full Text] [Related]
35. X-linked hydrocephalus: a novel missense mutation in the L1CAM gene. Sztriha L; Vos YJ; Verlind E; Johansen J; Berg B Pediatr Neurol; 2002 Oct; 27(4):293-6. PubMed ID: 12435569 [TBL] [Abstract][Full Text] [Related]
36. Spectrum and detection rate of L1CAM mutations in isolated and familial cases with clinically suspected L1-disease. Finckh U; Schröder J; Ressler B; Veske A; Gal A Am J Med Genet; 2000 May; 92(1):40-6. PubMed ID: 10797421 [TBL] [Abstract][Full Text] [Related]
37. L1 syndrome diagnosis complemented with functional analysis of L1CAM variants located to the two N-terminal Ig-like domains. Christaller WA; Vos Y; Gebre-Medhin S; Hofstra RM; Schäfer MK Clin Genet; 2017 Jan; 91(1):115-120. PubMed ID: 26891472 [TBL] [Abstract][Full Text] [Related]
38. Hydrocephalus with Hirschsprung disease: severe end of X-linked hydrocephalus spectrum. Takenouchi T; Nakazawa M; Kanemura Y; Shimozato S; Yamasaki M; Takahashi T; Kosaki K Am J Med Genet A; 2012 Apr; 158A(4):812-5. PubMed ID: 22354677 [TBL] [Abstract][Full Text] [Related]
39. Expanding the phenotypic spectrum of L1CAM-associated disease. Basel-Vanagaite L; Straussberg R; Friez MJ; Inbar D; Korenreich L; Shohat M; Schwartz CE Clin Genet; 2006 May; 69(5):414-9. PubMed ID: 16650080 [TBL] [Abstract][Full Text] [Related]
40. A novel L1CAM mutation in a fetus detected by prenatal diagnosis. Piccione M; Matina F; Fichera M; Lo Giudice M; Damiani G; Jakil MC; Corsello G Eur J Pediatr; 2010 Apr; 169(4):415-9. PubMed ID: 19685344 [TBL] [Abstract][Full Text] [Related] [Previous] [Next] [New Search]