191 related articles for article (PubMed ID: 10364530)
21. Prenatal sonographic features of spondylocostal dysostosis and diaphragmatic hernia in the first trimester.
Lam YH; Eik-Nes SH; Tang MH; Lee CP; Nicholls JM
Ultrasound Obstet Gynecol; 1999 Mar; 13(3):213-5. PubMed ID: 10204217
[TBL] [Abstract][Full Text] [Related]
22. Thoracic three-dimensional spiral CT findings of an infant with spondylothoracic dysostosis.
Tamay Z; Guler N; Ones U; Leman OD; Akcay A
Indian J Pediatr; 2005 Apr; 72(4):367. PubMed ID: 15876776
[TBL] [Abstract][Full Text] [Related]
23. A new locus for autosomal recessive nuclear cataract mapped to chromosome 19q13 in a Pakistani family.
Riazuddin SA; Yasmeen A; Zhang Q; Yao W; Sabar MF; Ahmed Z; Riazuddin S; Hejtmancik JF
Invest Ophthalmol Vis Sci; 2005 Feb; 46(2):623-6. PubMed ID: 15671291
[TBL] [Abstract][Full Text] [Related]
24. A case of spondylocostal dysostosis with a fra (5) (q32).
Satar M; Temoçin AK; Atici A; Demirhan O
Turk J Pediatr; 1997; 39(4):547-9. PubMed ID: 9433158
[TBL] [Abstract][Full Text] [Related]
25. Familial nephrotic syndrome: clinical spectrum and linkage to chromosome 19q13.
Vats A; Nayak A; Ellis D; Randhawa PS; Finegold DN; Levinson KL; Ferrell RE
Kidney Int; 2000 Mar; 57(3):875-81. PubMed ID: 10720940
[TBL] [Abstract][Full Text] [Related]
26. Prenatal diagnosis of spondylocostal dysostosis with 3-dimensional ultrasonography.
Sallout BI; D'Agostini DA; Pretorius DH
J Ultrasound Med; 2006 Apr; 25(4):539-43. PubMed ID: 16567446
[No Abstract] [Full Text] [Related]
27. Linkage of type II and type III cystinuria to 19q13.1: codominant inheritance of two cystinuric alleles at 19q13.1 produces an extreme stone-forming phenotype.
Stoller ML; Bruce JE; Bruce CA; Foroud T; Kirkwood SC; Stambrook PJ
Am J Med Genet; 1999 Sep; 86(2):134-9. PubMed ID: 10449648
[TBL] [Abstract][Full Text] [Related]
28. Mapping of a new locus for autosomal recessive demyelinating Charcot-Marie-Tooth disease to 19q13.1-13.3 in a large consanguineous Lebanese family: exclusion of MAG as a candidate gene.
Delague V; Bareil C; Tuffery S; Bouvagnet P; Chouery E; Koussa S; Maisonobe T; Loiselet J; Mégarbané A; Claustres M
Am J Hum Genet; 2000 Jul; 67(1):236-43. PubMed ID: 10848494
[TBL] [Abstract][Full Text] [Related]
29. [Spondylo-costal dysostosis: presentation of a new case with autosomal dominant heredity and discussion of problems in genetic counseling].
Martello C; Stangoni G; Mezzetti D; Calabro A; Cianfrini D; Lungarotti MS
Pediatr Med Chir; 1992; 14(4):465-8. PubMed ID: 1461791
[TBL] [Abstract][Full Text] [Related]
30. Pseudodominant inheritance of spondylocostal dysostosis type 1 caused by two familial delta-like 3 mutations.
Whittock NV; Ellard S; Duncan J; de Die-Smulders CE; Vles JS; Turnpenny PD
Clin Genet; 2004 Jul; 66(1):67-72. PubMed ID: 15200511
[TBL] [Abstract][Full Text] [Related]
31. Autosomal dominant partial epilepsy with auditory features: a new locus on chromosome 19q13.11-q13.31.
Bisulli F; Naldi I; Baldassari S; Magini P; Licchetta L; Castegnaro G; Fabbri M; Stipa C; Ferrari S; Seri M; Gonçalves Silva GE; Tinuper P; Pippucci T
Epilepsia; 2014 Jun; 55(6):841-8. PubMed ID: 24579982
[TBL] [Abstract][Full Text] [Related]
32. Spondylocostal dysostosis.
Kher A; Bhat M; Ratnam KL; Khambadkone S; Bharucha BA; Irani SF
Indian J Pediatr; 1993; 60(6):813-8. PubMed ID: 8200707
[TBL] [Abstract][Full Text] [Related]
33. Spondylocostal dysostosis in a pregnancy complicated by confined placental mosaicism for tetrasomy 9p.
Coman D; Bacic S; Boys A; Sparrow DB; Dunwoodie SL; Savarirayan R; Amor DJ
Am J Med Genet A; 2008 Aug; 146A(15):1972-6. PubMed ID: 18627039
[TBL] [Abstract][Full Text] [Related]
34. Spondylocostal dysostosis associated with a 46, XX,+15,dic(6;15)(q25;q11.2) translocation.
Crow YJ; Tolmie JL; Rippard K; Nairn L; Wilkinson AG; Turner T
Clin Dysmorphol; 1997 Oct; 6(4):347-50. PubMed ID: 9354844
[TBL] [Abstract][Full Text] [Related]
35. A second locus for an axonal form of autosomal recessive Charcot-Marie-Tooth disease maps to chromosome 19q13.3.
Leal A; Morera B; Del Valle G ; Heuss D; Kayser C; Berghoff M; Villegas R; Hernández E; Méndez M; Hennies HC; Neundörfer B; Barrantes R; Reis A; Rautenstrauss B
Am J Hum Genet; 2001 Jan; 68(1):269-74. PubMed ID: 11112660
[TBL] [Abstract][Full Text] [Related]
36. Homozygous DMRT2 variant associates with severe rib malformations in a newborn.
Bouman A; Waisfisz Q; Admiraal J; van de Loo M; van Rijn RR; Micha D; Oostra RJ; Mathijssen IB
Am J Med Genet A; 2018 May; 176(5):1216-1221. PubMed ID: 29681102
[TBL] [Abstract][Full Text] [Related]
37. Two novel missense mutations in HAIRY-AND-ENHANCER-OF-SPLIT-7 in a family with spondylocostal dysostosis.
Sparrow DB; Sillence D; Wouters MA; Turnpenny PD; Dunwoodie SL
Eur J Hum Genet; 2010 Jun; 18(6):674-9. PubMed ID: 20087400
[TBL] [Abstract][Full Text] [Related]
38. Spondylocostal dysostosis associated with methylmalonic aciduria.
Honjo RS; Casella EB; Vieira MA; Bertola DR; Albano LM; Oliveira LA; Nomachi S; Hanai J; Benoist JF; Ellard S; Young E; Kim CA
Genet Test Mol Biomarkers; 2009 Apr; 13(2):181-3. PubMed ID: 19371216
[TBL] [Abstract][Full Text] [Related]
39. Familial Jarcho-Levin syndrome.
Romeo MG; Distefano G; Di Bella D; Mangiagli A; Caltabiano L; Roccaro S; Mollica F
Clin Genet; 1991 Apr; 39(4):253-9. PubMed ID: 2070546
[TBL] [Abstract][Full Text] [Related]
40. [Four cases of Jarcho-Levin's syndrome in the province of Antioquia, Colombia].
Montoya JH; Morales OL
Biomedica; 2009 Mar; 29(1):25-32. PubMed ID: 19753836
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
