309 related articles for article (PubMed ID: 10874634)
21. Oral-facial-digital syndrome type IV (Mohr-Majewski syndrome): a fetopathological study.
Moerman P; Fryns JP
Genet Couns; 1998; 9(1):39-43. PubMed ID: 9555586
[TBL] [Abstract][Full Text] [Related]
22. Autosomal recessive mode of inheritance of a Coffin-Siris like syndrome.
Bonioli E; Palmieri A; Bertola A; Bellini C
Genet Couns; 1995; 6(4):309-12. PubMed ID: 8775417
[TBL] [Abstract][Full Text] [Related]
23. An inactivating mutation in intestinal cell kinase, ICK, impairs hedgehog signalling and causes short rib-polydactyly syndrome.
Paige Taylor S; Kunova Bosakova M; Varecha M; Balek L; Barta T; Trantirek L; Jelinkova I; Duran I; Vesela I; Forlenza KN; Martin JH; Hampl A; ; Bamshad M; Nickerson D; Jaworski ML; Song J; Ko HW; Cohn DH; Krakow D; Krejci P
Hum Mol Genet; 2016 Sep; 25(18):3998-4011. PubMed ID: 27466187
[TBL] [Abstract][Full Text] [Related]
24. Setleis syndrome: autosomal recessive or autosomal dominant inheritance?
al-Gazali LI; al-Talabani J
Clin Dysmorphol; 1996 Jul; 5(3):249-53. PubMed ID: 8818454
[TBL] [Abstract][Full Text] [Related]
25. A short rib polydactyly syndrome overlapping both lethal and nonlethal types.
Başgül Yiğiter A; Güdücü N; Kavak ZN; Işçi H; Elçioğlu N
Genet Couns; 2012; 23(2):231-7. PubMed ID: 22876582
[TBL] [Abstract][Full Text] [Related]
26. Leucodysplasia, microcephaly, cerebral malformation (LMC): a novel recessive disorder linked to 2p16.
Chandler KE; Del Rio A; Rakshi K; Springell K; Williams DK; Stoodley N; Woods CG; Pilz DT
Brain; 2006 Jan; 129(Pt 1):272-7. PubMed ID: 16272165
[TBL] [Abstract][Full Text] [Related]
27. [Joubert's syndrome: report of 12 cases].
Barreirinho MS; Teixeira J; Moreira NC; Bastos S; Gonçalvez S; Barbot MC
Rev Neurol; 2001 May 1-15; 32(9):812-7. PubMed ID: 11424029
[TBL] [Abstract][Full Text] [Related]
28. A 34-week-old male fetus with short rib polydactyly syndrome (SRPS) type I (Saldino-Noonan) with pancreatic cysts.
Balci S; Altinok G; Tekşen F; Eryilmaz M
Turk J Pediatr; 2003; 45(2):174-8. PubMed ID: 12921311
[TBL] [Abstract][Full Text] [Related]
29. Short rib-polydactyly syndrome: a case report.
Türkmen M; Temoçin K; Acar C; Levi E; Karaman C; Inan G; Elçioğlu N
Turk J Pediatr; 2003; 45(4):359-62. PubMed ID: 14768808
[TBL] [Abstract][Full Text] [Related]
30. Short rib-polydactyly syndrome, type 3 with chondrocytic inclusions: report of a case and review of the literature.
Yang SS; Lin CS; Al Saadi A; Nangia BS; Bernstein J
Am J Med Genet; 1980; 7(2):205-13. PubMed ID: 7468648
[TBL] [Abstract][Full Text] [Related]
31. von Voss-Cherstvoy syndrome: a variable perinatally lethal syndrome of multiple congenital anomalies.
Lubinsky MS; Kahler SG; Speer IE; Hoyme HE; Kirillova IA; Lurie IW
Am J Med Genet; 1994 Sep; 52(3):272-8. PubMed ID: 7810558
[TBL] [Abstract][Full Text] [Related]
32. Mutations in DYNC2H1, the cytoplasmic dynein 2, heavy chain 1 motor protein gene, cause short-rib polydactyly type I, Saldino-Noonan type.
Badiner N; Taylor SP; Forlenza K; Lachman RS; ; Bamshad M; Nickerson D; Cohn DH; Krakow D
Clin Genet; 2017 Aug; 92(2):158-165. PubMed ID: 27925158
[TBL] [Abstract][Full Text] [Related]
33. Multiple congenital malformations in two sibs reminiscent of hydrolethalus and pseudotrisomy 13 syndromes.
Dincsoy MY; Salih MA; al-Jurayyan N; al Saadi M; Patel PJ
Am J Med Genet; 1995 Apr; 56(3):317-21. PubMed ID: 7778599
[TBL] [Abstract][Full Text] [Related]
34. [Hydrometrocolpos, polydactylia and congenital heart defect (the McKusick-Dungy-Kaufman syndrome)].
Hamel BC; ter Haar BG
Tijdschr Kindergeneeskd; 1984 Aug; 52(4):129-33. PubMed ID: 6495304
[TBL] [Abstract][Full Text] [Related]
35. Short rib polydactyly syndrome-Type I.
Sridhar S; Kishore R; Thomas N; Jana AK
Indian J Pediatr; 2004 Apr; 71(4):359-61. PubMed ID: 15107523
[TBL] [Abstract][Full Text] [Related]
36. Oculocutaneous albinism, immunodeficiency, hematological disorders, and minor anomalies: a new autosomal recessive syndrome?
Kotzot D; Richter K; Gierth-Fiebig K
Am J Med Genet; 1994 Apr; 50(3):224-7. PubMed ID: 8042664
[TBL] [Abstract][Full Text] [Related]
37. Problems in diagnosis and delineation of inherited disorders in highly inbred populations.
Zlotogora J
Am J Med Genet; 1991 Dec; 41(4):451-3. PubMed ID: 1776636
[TBL] [Abstract][Full Text] [Related]
38. Short rib polydactyly syndrome type 3 with absence of fibulae (Verma-Naumoff syndrome).
Kumru P; Aka N; Köse G; Vural ZT; Peker O; Kayserili H
Fetal Diagn Ther; 2005; 20(5):410-4. PubMed ID: 16113563
[TBL] [Abstract][Full Text] [Related]
39. Naumoff short-rib polydactyly syndrome compounded with Mohr oral-facial-digital syndrome.
Young LW; Wilhelm LL; Zuppan CW; Clark R
Pediatr Radiol; 2001 Jan; 31(1):31-5. PubMed ID: 11200995
[TBL] [Abstract][Full Text] [Related]
40. Short rib-polydactyly syndrome (SRPS) with anencephaly and other central nervous system anomalies: a new type of SRPS or a more severe expression of a known SRPS entity?
Martínez-Frías ML; Bermejo E; Urioste M; Egüés J; López Soler JA
Am J Med Genet; 1993 Oct; 47(5):782-7. PubMed ID: 8267012
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
