These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
12. Alport syndrome. Molecular genetic aspects. Hertz JM Dan Med Bull; 2009 Aug; 56(3):105-52. PubMed ID: 19728970 [TBL] [Abstract][Full Text] [Related]
13. Keratosis Follicularis Spinulosa Decalvans is caused by mutations in MBTPS2. Aten E; Brasz LC; Bornholdt D; Hooijkaas IB; Porteous ME; Sybert VP; Vermeer MH; Vossen RH; van der Wielen MJ; Bakker E; Breuning MH; Grzeschik KH; Oosterwijk JC; den Dunnen JT Hum Mutat; 2010 Oct; 31(10):1125-33. PubMed ID: 20672378 [TBL] [Abstract][Full Text] [Related]
14. [Darier disease in children. Eight case-reports (author's transl)]. Larregue M; Bonnetblanc P; Prigent F; Lorette G; Laresche MC; Ramdenne P; Titi A Ann Pediatr (Paris); 1982 Jan; 29(1):35-9. PubMed ID: 7055356 [No Abstract] [Full Text] [Related]
15. Molecular genetic analysis of two families with keratosis follicularis spinulosa decalvans: refinement of gene localization and evidence for genetic heterogeneity. Oosterwijk JC; Richard G; van der Wielen MJ; van de Vosse E; Harth W; Sandkuijl LA; Bakker E; van Ommen GJ Hum Genet; 1997 Oct; 100(5-6):520-4. PubMed ID: 9341865 [TBL] [Abstract][Full Text] [Related]
16. Partial Xp duplication due to a translocation t(X;15) in two male and two female patients: a familial case report and review of the literature. Melaragno MI; Ramos MA; Brunoni D Ann Genet; 1998; 41(4):189-94. PubMed ID: 9881180 [TBL] [Abstract][Full Text] [Related]
17. [Dyskeratosis follicularis Darier. Studies in a family with 11 manifest patients in three from four generations]. Go MJ; Wille KH; Hundeiker M; Wuite J Hautarzt; 1973 Sep; 24(9):393-7. PubMed ID: 4767418 [No Abstract] [Full Text] [Related]
18. Human genetics of the abdominal aortic aneurysm. Tilson MD; Seashore MR Surg Gynecol Obstet; 1984 Feb; 158(2):129-32. PubMed ID: 6695305 [TBL] [Abstract][Full Text] [Related]
19. Fragile X chromosome and X-linked mental retardation. Larbrisseau A; Jean P; Messier B; Richer CL Can Med Assoc J; 1982 Jul; 127(2):123-6. PubMed ID: 7093857 [TBL] [Abstract][Full Text] [Related]
20. Confirmation of X-linked inheritance and provisional mapping of the keratosis follicularis spinulosa decalvans gene on Xp in a large Dutch family. Oosterwijk JC; Nelen M; Van Zandvoort PM; Van Osch LD; Oranje AP; Wittebol-Post D; Van Oost BA Ophthalmic Paediatr Genet; 1992 Mar; 13(1):27-30. PubMed ID: 1350668 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]