142 related articles for article (PubMed ID: 18297069)
1. Mutations in the cyclin family member FAM58A cause an X-linked dominant disorder characterized by syndactyly, telecanthus and anogenital and renal malformations.
Unger S; Böhm D; Kaiser FJ; Kaulfuss S; Borozdin W; Buiting K; Burfeind P; Böhm J; Barrionuevo F; Craig A; Borowski K; Keppler-Noreuil K; Schmitt-Mechelke T; Steiner B; Bartholdi D; Lemke J; Mortier G; Sandford R; Zabel B; Superti-Furga A; Kohlhase J
Nat Genet; 2008 Mar; 40(3):287-9. PubMed ID: 18297069
[TBL] [Abstract][Full Text] [Related]
2. Ocular manifestations of X-linked dominant FAM58A mutation in toe syndactyly, telecanthus, anogenital, and renal malformations ('STAR') syndrome.
Orge FH; Dar SA; Blackburn CN; Grimes-Hodges SJ; Mitchell AL
Ophthalmic Genet; 2016 Sep; 37(3):323-7. PubMed ID: 26882209
[TBL] [Abstract][Full Text] [Related]
3. STAR syndrome plus: The first description of a female patient with the lethal form.
Bedeschi MF; Giangiobbe S; Paganini L; Tabano S; Silipigni R; Colombo L; Crippa BL; Lalatta F; Guerneri S; Miozzo M
Am J Med Genet A; 2017 Dec; 173(12):3226-3230. PubMed ID: 29088509
[TBL] [Abstract][Full Text] [Related]
4. Multigenerational pedigree with STAR syndrome: A novel FAM58A variant and expansion of the phenotype.
Boczek NJ; Kruisselbrink T; Cousin MA; Blackburn PR; Klee EW; Gavrilova RH; Lanpher BC
Am J Med Genet A; 2017 May; 173(5):1328-1333. PubMed ID: 28322501
[TBL] [Abstract][Full Text] [Related]
5. CDK10/cyclin M is a protein kinase that controls ETS2 degradation and is deficient in STAR syndrome.
Guen VJ; Gamble C; Flajolet M; Unger S; Thollet A; Ferandin Y; Superti-Furga A; Cohen PA; Meijer L; Colas P
Proc Natl Acad Sci U S A; 2013 Nov; 110(48):19525-30. PubMed ID: 24218572
[TBL] [Abstract][Full Text] [Related]
6. STAR syndrome-associated CDK10/Cyclin M regulates actin network architecture and ciliogenesis.
Guen VJ; Gamble C; Perez DE; Bourassa S; Zappel H; Gärtner J; Lees JA; Colas P
Cell Cycle; 2016; 15(5):678-88. PubMed ID: 27104747
[TBL] [Abstract][Full Text] [Related]
7. An autosomal dominant syndrome of renal and anogenital malformations with syndactyly.
Green AJ; Sandford RN; Davison BC
J Med Genet; 1996 Jul; 33(7):594-6. PubMed ID: 8818947
[TBL] [Abstract][Full Text] [Related]
8. Clinical and genetic approach in the characterization of newborns with anorectal malformation.
Schierz IAM; Piro E; Giuffrè M; Pinello G; Angelini A; Antona V; Cimador M; Corsello G
J Matern Fetal Neonatal Med; 2022 Dec; 35(23):4513-4520. PubMed ID: 36062518
[TBL] [Abstract][Full Text] [Related]
9. The identification of a novel CCNQ gene tail extension variant contributing to syndactyly, telecanthus and anogenital and renal malformations syndrome.
Che R; Wang C; Huang S; Zheng B; Li H; Cheng X; Zhao F; Ding G; Jia Z; Zhang A
Clin Genet; 2023 Feb; 103(2):179-189. PubMed ID: 36284407
[TBL] [Abstract][Full Text] [Related]
10. STAR syndrome: a further case and the first report of maternal mosaicism.
Lefroy H; Hurst JA; Shears DJ
Clin Dysmorphol; 2017 Jul; 26(3):157-160. PubMed ID: 28225384
[No Abstract] [Full Text] [Related]
11. STAR syndrome is part of the differential diagnosis of females with anorectal malformations.
Zarate YA; Farrell JM; Alfaro MP; Elhassan NO
Am J Med Genet A; 2015 Aug; 167A(8):1940-3. PubMed ID: 25845904
[No Abstract] [Full Text] [Related]
12. Lily's Story: STAR Syndrome.
Blackburn C
Adv Neonatal Care; 2015 Aug; 15(4):269-73. PubMed ID: 26225595
[TBL] [Abstract][Full Text] [Related]
13. A new spontaneous mouse mutation of Hoxd13 with a polyalanine expansion and phenotype similar to human synpolydactyly.
Johnson KR; Sweet HO; Donahue LR; Ward-Bailey P; Bronson RT; Davisson MT
Hum Mol Genet; 1998 Jun; 7(6):1033-8. PubMed ID: 9580668
[TBL] [Abstract][Full Text] [Related]
14. Autosomal dominant sacral agenesis: Currarino syndrome.
Lynch SA; Wang Y; Strachan T; Burn J; Lindsay S
J Med Genet; 2000 Aug; 37(8):561-6. PubMed ID: 10922380
[TBL] [Abstract][Full Text] [Related]
15. Mild facial dysmorphism and quasidominant inheritance in Cenani-Lenz syndrome.
Temtamy SA; Ismail S; Nemat A
Clin Dysmorphol; 2003 Apr; 12(2):77-83. PubMed ID: 12868467
[TBL] [Abstract][Full Text] [Related]
16. X-linked VACTERL with hydrocephalus syndrome: further delineation of the phenotype caused by FANCB mutations.
McCauley J; Masand N; McGowan R; Rajagopalan S; Hunter A; Michaud JL; Gibson K; Robertson J; Vaz F; Abbs S; Holden ST
Am J Med Genet A; 2011 Oct; 155A(10):2370-80. PubMed ID: 21910217
[TBL] [Abstract][Full Text] [Related]
17. Role of HOX genes in human development.
Innis JW
Curr Opin Pediatr; 1997 Dec; 9(6):617-22. PubMed ID: 9425595
[TBL] [Abstract][Full Text] [Related]
18. Renal agenesis as a diagnostic feature of the cryptophthalmos-syndactyly syndrome.
Lurie IW; Cherstvoy ED
Clin Genet; 1984 Jun; 25(6):528-32. PubMed ID: 6329562
[TBL] [Abstract][Full Text] [Related]
19. Two patients with intellectual disability, overlapping facial features, and overlapping deletions in 6p25.1p24.3.
Kuipers BC; Vulto-van Silfhout AT; Marcelis C; Pfundt R; de Leeuw N; de Vries BB
Clin Dysmorphol; 2013 Jan; 22(1):18-21. PubMed ID: 23183317
[TBL] [Abstract][Full Text] [Related]
20. Spondylocostal dysostosis, anal and genitourinary malformations in a fetal case: a new case of Casamassima-Morton-Nance syndrome?
Thauvin-Robinet C; Laurent N; Rousseau T; Couvreur S; Cusin V; Callier P; Mugneret F; Durand C; Huet F; Sagot P; Faivre L
Eur J Med Genet; 2007; 50(1):85-91. PubMed ID: 17056308
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
