174 related articles for article (PubMed ID: 8075632)
21. Hydrometrocolpos and polydactyly: a common neonatal presentation of Bardet-Biedl and McKusick-Kaufman syndromes.
David A; Bitoun P; Lacombe D; Lambert JC; Nivelon A; Vigneron J; Verloes A
J Med Genet; 1999 Aug; 36(8):599-603. PubMed ID: 10465109
[TBL] [Abstract][Full Text] [Related]
22. Triallelic inheritance in Bardet-Biedl syndrome, a Mendelian recessive disorder.
Katsanis N; Ansley SJ; Badano JL; Eichers ER; Lewis RA; Hoskins BE; Scambler PJ; Davidson WS; Beales PL; Lupski JR
Science; 2001 Sep; 293(5538):2256-9. PubMed ID: 11567139
[TBL] [Abstract][Full Text] [Related]
23. New criteria for improved diagnosis of Bardet-Biedl syndrome: results of a population survey.
Beales PL; Elcioglu N; Woolf AS; Parker D; Flinter FA
J Med Genet; 1999 Jun; 36(6):437-46. PubMed ID: 10874630
[TBL] [Abstract][Full Text] [Related]
24. A gene for FG syndrome maps in the Xq12-q21.31 region.
Briault S; Hill R; Shrimpton A; Zhu D; Till M; Ronce N; Margaritte-Jeannin P; Baraitser M; Middleton-Price H; Malcolm S; Thompson E; Hoo J; Wilson G; Romano C; Guichet A; Pembrey M; Fontes M; Poustka A; Moraine C
Am J Med Genet; 1997 Nov; 73(1):87-90. PubMed ID: 9375929
[TBL] [Abstract][Full Text] [Related]
25. Bardet-Biedl syndrome: a molecular and phenotypic study of 18 families.
Beales PL; Warner AM; Hitman GA; Thakker R; Flinter FA
J Med Genet; 1997 Feb; 34(2):92-8. PubMed ID: 9039982
[TBL] [Abstract][Full Text] [Related]
26. Pitfalls of homozygosity mapping: an extended consanguineous Bardet-Biedl syndrome family with two mutant genes (BBS2, BBS10), three mutations, but no triallelism.
Laurier V; Stoetzel C; Muller J; Thibault C; Corbani S; Jalkh N; Salem N; Chouery E; Poch O; Licaire S; Danse JM; Amati-Bonneau P; Bonneau D; Mégarbané A; Mandel JL; Dollfus H
Eur J Hum Genet; 2006 Nov; 14(11):1195-203. PubMed ID: 16823392
[TBL] [Abstract][Full Text] [Related]
27. Bardet-Biedl syndrome in Denmark--report of 13 novel sequence variations in six genes.
Hjortshøj TD; Grønskov K; Philp AR; Nishimura DY; Riise R; Sheffield VC; Rosenberg T; Brøndum-Nielsen K
Hum Mutat; 2010 Apr; 31(4):429-36. PubMed ID: 20120035
[TBL] [Abstract][Full Text] [Related]
28. Severe nonspecific X-linked mental retardation caused by a proximally Xp located gene: intragenic heterogeneity or a new form of X-linked mental retardation?
Passos-Bueno MR; Byth BC; Rosenberg S; Takata RI; Bakker E; Beggs AH; Pavanello RC; Vainzof M; Davies KE; Zatz M
Am J Med Genet; 1993 Apr; 46(2):172-5. PubMed ID: 8484404
[TBL] [Abstract][Full Text] [Related]
29. Clinical and genetic heterogeneity of Seckel syndrome.
Faivre L; Le Merrer M; Lyonnet S; Plauchu H; Dagoneau N; Campos-Xavier AB; Attia-Sobol J; Verloes A; Munnich A; Cormier-Daire V
Am J Med Genet; 2002 Nov; 112(4):379-83. PubMed ID: 12376940
[TBL] [Abstract][Full Text] [Related]
30. Segregation of Allgrove (triple-A) syndrome in Puerto Rican kindreds with chromosome 12 (12q13) polymorphic markers.
Stratakis CA; Lin JP; Pras E; Rennert OM; Bourdony CJ; Chan WY
Proc Assoc Am Physicians; 1997 Sep; 109(5):478-82. PubMed ID: 9285947
[TBL] [Abstract][Full Text] [Related]
31. GLI3 frameshift mutations cause autosomal dominant Pallister-Hall syndrome.
Kang S; Graham JM; Olney AH; Biesecker LG
Nat Genet; 1997 Mar; 15(3):266-8. PubMed ID: 9054938
[TBL] [Abstract][Full Text] [Related]
32. Bardet-biedl syndrome and brain abnormalities.
Rooryck C; Pelras S; Chateil JF; Cances C; Arveiler B; Verloes A; Lacombe D; Goizet C
Neuropediatrics; 2007 Feb; 38(1):5-9. PubMed ID: 17607597
[TBL] [Abstract][Full Text] [Related]
33. Bardet-Biedl syndrome.
Keith CG
Aust J Ophthalmol; 1984 May; 12(2):143-8. PubMed ID: 6487184
[TBL] [Abstract][Full Text] [Related]
34. Exclusion of the Ellis-van Creveld region on chromosome 4p16 in some families with asphyxiating thoracic dystrophy and short-rib polydactyly syndromes.
Krakow D; Salazar D; Wilcox WR; Rimoin DL; Cohn DH
Eur J Hum Genet; 2000 Aug; 8(8):645-8. PubMed ID: 10951528
[TBL] [Abstract][Full Text] [Related]
35. The cloning and developmental expression of unconventional myosin IXA (MYO9A) a gene in the Bardet-Biedl syndrome (BBS4) region at chromosome 15q22-q23.
Gorman SW; Haider NB; Grieshammer U; Swiderski RE; Kim E; Welch JW; Searby C; Leng S; Carmi R; Sheffield VC; Duhl DM
Genomics; 1999 Jul; 59(2):150-60. PubMed ID: 10409426
[TBL] [Abstract][Full Text] [Related]
36. Novel homozygous mutations in the genes ARL6 and BBS10 underlying Bardet-Biedl syndrome.
Khan S; Ullah I; Irfanullah ; Touseef M; Basit S; Khan MN; Ahmad W
Gene; 2013 Feb; 515(1):84-8. PubMed ID: 23219996
[TBL] [Abstract][Full Text] [Related]
37. The autosomal recessive Kenny-Caffey syndrome locus maps to chromosome 1q42-q43.
Diaz GA; Khan KT; Gelb BD
Genomics; 1998 Nov; 54(1):13-8. PubMed ID: 9806825
[TBL] [Abstract][Full Text] [Related]
38. X-linked nonspecific mental retardation (MRX16) mapping to distal Xq28: linkage study and neuropsychological data in a large family.
Gendrot C; Ronce N; Raynaud M; Ayrault AD; Dourlens J; Castelnau P; Muh JP; Chelly J; Moraine C
Am J Med Genet; 1999 Apr; 83(5):411-8. PubMed ID: 10232754
[TBL] [Abstract][Full Text] [Related]
39. Mental retardation, distinct facial changes, short stature, obesity, and hypogonadism: a new X-linked mental retardation syndrome.
Chudley AE; Lowry RB; Hoar DI
Am J Med Genet; 1988 Dec; 31(4):741-51. PubMed ID: 3239563
[TBL] [Abstract][Full Text] [Related]
40. BBS10 mutations are common in 'Meckel'-type cystic kidneys.
Putoux A; Mougou-Zerelli S; Thomas S; Elkhartoufi N; Audollent S; Le Merrer M; Lachmeijer A; Sigaudy S; Buenerd A; Fernandez C; Delezoide AL; Gubler MC; Salomon R; Saad A; Cordier MP; Vekemans M; Bouvier R; Attie-Bitach T
J Med Genet; 2010 Dec; 47(12):848-52. PubMed ID: 20805367
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
