147 related articles for article (PubMed ID: 8933344)
1. Isolated autosomal dominant type E brachydactyly: exclusion of linkage to candidate regions 2q37 and 20q13.
Oude Luttikhuis ME; Williams DK; Trembath RC
J Med Genet; 1996 Oct; 33(10):873-6. PubMed ID: 8933344
[TBL] [Abstract][Full Text] [Related]
2. Families with autosomal dominant brachydactyly type E, short stature, and severe hypertension.
Toka HR; Bähring S; Chitayat D; Melby JC; Whitehead R; Jeschke E; Wienker TF; Toka O; Schuster H; Luft FC
Ann Intern Med; 1998 Aug; 129(3):204-8. PubMed ID: 9696728
[TBL] [Abstract][Full Text] [Related]
3. RDCI, the vasoactive intestinal peptide receptor: a candidate gene for the features of Albright hereditary osteodystrophy associated with deletion of 2q37.
Power MM; James RS; Barber JC; Fisher AM; Wood PJ; Leatherdale BA; Flanagan DE; Hatchwell E
J Med Genet; 1997 Apr; 34(4):287-90. PubMed ID: 9138150
[TBL] [Abstract][Full Text] [Related]
4. The first familial case of inherited 2q37.3 interstitial deletion with isolated skeletal abnormalities including brachydactyly type E and short stature.
Jean-Marçais N; Decamp M; Gérard M; Ribault V; Andrieux J; Kottler ML; Plessis G
Am J Med Genet A; 2015 Jan; 167A(1):185-9. PubMed ID: 25402011
[TBL] [Abstract][Full Text] [Related]
5. Brachydactyly type E in two sibs with increased bone density and mental retardation. A new autosomal recessive syndrome?
Stoll C; Alembik Y
Genet Couns; 2004; 15(4):421-8. PubMed ID: 15658617
[TBL] [Abstract][Full Text] [Related]
6. Brachydactyly and mental retardation: an Albright hereditary osteodystrophy-like syndrome localized to 2q37.
Wilson LC; Leverton K; Oude Luttikhuis ME; Oley CA; Flint J; Wolstenholme J; Duckett DP; Barrow MA; Leonard JV; Read AP
Am J Hum Genet; 1995 Feb; 56(2):400-7. PubMed ID: 7847374
[TBL] [Abstract][Full Text] [Related]
7. New skeletal dysplasia with unique brachydactyly.
Mononen TK; Karnes PS; Senac MO; Falk RE
Am J Med Genet; 1992 Mar; 42(5):706-13. PubMed ID: 1632443
[TBL] [Abstract][Full Text] [Related]
8. Molecular cytogenetic analysis of five 2q37 deletions: refining the brachydactyly candidate region.
Chaabouni M; Le Merrer M; Raoul O; Prieur M; de Blois MC; Philippe A; Vekemans M; Romana SP
Eur J Med Genet; 2006; 49(3):255-63. PubMed ID: 16762827
[TBL] [Abstract][Full Text] [Related]
9. Phenotypic variant of Brachydactyly-mental retardation syndrome in a family with an inherited interstitial 2q37.3 microdeletion including HDAC4.
Villavicencio-Lorini P; Klopocki E; Trimborn M; Koll R; Mundlos S; Horn D
Eur J Hum Genet; 2013 Jul; 21(7):743-8. PubMed ID: 23188045
[TBL] [Abstract][Full Text] [Related]
10. Brachydactyly type C gene maps to human chromsome 12q24.
Polymeropoulos MH; Ide SE; Magyari T; Francomano CA
Genomics; 1996 Nov; 38(1):45-50. PubMed ID: 8954778
[TBL] [Abstract][Full Text] [Related]
11. A locus for brachydactyly type A-1 maps to chromosome 2q35-q36.
Yang X; She C; Guo J; Yu AC; Lu Y; Shi X; Feng G; He L
Am J Hum Genet; 2000 Mar; 66(3):892-903. PubMed ID: 10712204
[TBL] [Abstract][Full Text] [Related]
12. [Genetic analysis of a Chinese pedigree with congenital synpolydactyly].
Qin W; Shu AL; Xing QH; Yang MS; Feng GY; He L
Yi Chuan Xue Bao; 2003 Oct; 30(10):973-7. PubMed ID: 14669516
[TBL] [Abstract][Full Text] [Related]
13. Coexistent pseudohypoparathyroidism and D brachydactyly in a family.
Graudal N; Milman N; Nielsen LS; Niebuhr E; Bonde J
Clin Genet; 1986 Dec; 30(6):449-55. PubMed ID: 3815876
[TBL] [Abstract][Full Text] [Related]
14. Hereditary brachydactyly with nail dysplasia.
Schott GD
J Med Genet; 1978 Apr; 15(2):119-22. PubMed ID: 641944
[TBL] [Abstract][Full Text] [Related]
15. Familial brachydactyly and chondrocalcinosis. Report of a patient, pedigree and review of the literature.
Mathews JL; Samuelson CO; Manis S
J Rheumatol; 1983 Oct; 10(5):819-22. PubMed ID: 6644710
[TBL] [Abstract][Full Text] [Related]
16. [Type C hereditary brachydactyly].
Lorenzo Sanz G; Barrios Castellanos R; Quintana Castilla A; Corbatón Blasco J; García Lacalle C
Rev Clin Esp; 1989 Feb; 184(3):139-42. PubMed ID: 2717793
[TBL] [Abstract][Full Text] [Related]
17. Type A2 brachydactily: report of a new family.
Rasore-Quartino A; Camera G
Acta Genet Med Gemellol (Roma); 1977; 26(2):141-50. PubMed ID: 596111
[TBL] [Abstract][Full Text] [Related]
18. Severe autosomal dominant hypertension and brachydactyly in a unique Turkish kindred maps to human chromosome 12.
Schuster H; Wienker TE; Bähring S; Bilginturan N; Toka HR; Neitzel H; Jeschke E; Toka O; Gilbert D; Lowe A; Ott J; Haller H; Luft FC
Nat Genet; 1996 May; 13(1):98-100. PubMed ID: 8673114
[TBL] [Abstract][Full Text] [Related]
19. 2q37.3 Deletion Syndrome: Two Cases with Highly Distinctive Facial Phenotype, Discordant Association with Schizophrenic Psychosis, and Shared Deletion Breakpoint Region on 2q37.3.
Mehraein Y; Pfob M; Steinlein O; Aichinger E; Eggert M; Bubendorff V; Mannhart A; Müller S
Cytogenet Genome Res; 2015; 146(1):33-8. PubMed ID: 26112830
[TBL] [Abstract][Full Text] [Related]
20. A rare case of 2q37 microdeletion with Albright hereditary osteodystrophy-like phenotype.
Simşek-Kiper PO; Utine GE; Alanay Y; Aktaş D; Alikaşifoğlu M; Boduroğlu K
Turk J Pediatr; 2011; 53(5):558-60. PubMed ID: 22272459
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]