PubMed

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 1;129(3):204-8.PMID: 9696728 [PubMed - indexed for MEDLINE]Related articlesFree article

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.PMID: 8673114 [PubMed - indexed for MEDLINE]Related articles

Absence of hypertensive retinopathy in a Turkish kindred with autosomal dominant hypertension and brachydactyly.

Hattenbach LO, Toka HR, Toka O, Schuster H, Luft FC.

Br J Ophthalmol. 1998 Dec;82(12):1363-5.PMID: 9930264 [PubMed - indexed for MEDLINE]Related articlesFree article

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.PMID: 8933344 [PubMed - indexed for MEDLINE]Related articlesFree article

Autosomal-dominant hypertension with type E brachydactyly is caused by rearrangement on the short arm of chromosome 12.

Bähring S, Rauch A, Toka O, Schroeder C, Hesse C, Siedler H, Fesüs G, Haefeli WE, Busjahn A, Aydin A, Neuenfeld Y, Mühl A, Toka HR, Gollasch M, Jordan J, Luft FC.

Hypertension. 2004 Feb;43(2):471-6. Epub 2004 Jan 5.PMID: 14707163 [PubMed - indexed for MEDLINE]Related articlesFree article

Brachydactyly-short stature-hypertension (Bilginturan) syndrome: report on two families.

Chitayat D, Grix A, Balfe JW, Abramowicz JS, Garza J, Fong CT, Silver MM, Saller DN Jr, Bresnick GH, Giedion A, Lachman RS, Rimoin DL.

Am J Med Genet. 1997 Dec 19;73(3):279-85.PMID: 9415685 [PubMed - indexed for MEDLINE]Related articles

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.PMID: 10712204 [PubMed - indexed for MEDLINE]Related articlesFree article

Brachydactyly, distal symphalangism, scoliosis, tall stature, and club feet: a new syndrome.

Sillence DO.

J Med Genet. 1978 Jun;15(3):208-11.PMID: 671485 [PubMed - indexed for MEDLINE]Related articlesFree article

Deletion at 12p in a Japanese child with brachydactyly overlaps the assigned locus of brachydactyly with hypertension in a Turkish family.

Bähring S, Nagai T, Toka HR, Nitz I, Toka O, Aydin A, Mühl A, Wienker TF, Schuster H, Luft FC.

Am J Hum Genet. 1997 Mar;60(3):732-5. No abstract available. PMID: 9042935 [PubMed - indexed for MEDLINE]Related articlesFree article

Brachydactyly type C gene maps to human chromsome 12q24.

Polymeropoulos MH, Ide SE, Magyari T, Francomano CA.

Genomics. 1996 Nov 15;38(1):45-50.PMID: 8954778 [PubMed - indexed for MEDLINE]Related articles

A new syndrome of dwarfism, brachydactyly, nail dysplasia, and mental retardation in sibs.

Tonoki H, Kishino T, Niikawa N.

Am J Med Genet. 1990 May;36(1):89-93.PMID: 2333912 [PubMed - indexed for MEDLINE]Related articles

Genome-wide linkage reveals a locus for human essential (primary) hypertension on chromosome 12p.

Gong M, Zhang H, Schulz H, Lee YA, Sun K, Bähring S, Luft FC, Nürnberg P, Reis A, Rohde K, Ganten D, Hui R, Hübner N.

Hum Mol Genet. 2003 Jun 1;12(11):1273-7.PMID: 12761042 [PubMed - indexed for MEDLINE]Related articlesFree article

One gene, two phenotypes: ROR2 mutations in autosomal recessive Robinow syndrome and autosomal dominant brachydactyly type B.

Afzal AR, Jeffery S.

Hum Mutat. 2003 Jul;22(1):1-11.PMID: 12815588 [PubMed - indexed for MEDLINE]Related articles

Autosomal dominant hypertension with brachydactyly: an enigmatic form of monogenic hypertension.

Schuster H.

Nephrol Dial Transplant. 1998 Jun;13(6):1337-40. No abstract available. PMID: 9641152 [PubMed - indexed for MEDLINE]Related articlesFree article

Autosomal dominant hypertension and brachydactyly in a Turkish kindred resembles essential hypertension.

Schuster H, Wienker TF, Toka HR, Bähring S, Jeschke E, Toka O, Busjahn A, Hempel A, Tahlhammer C, Oelkers W, Kunze J, Bilginturan N, Haller H, Luft FC.

Hypertension. 1996 Dec;28(6):1085-92.PMID: 8952601 [PubMed - indexed for MEDLINE]Related articlesFree article

Brachydactyly type B: clinical description, genetic mapping to chromosome 9q, and evidence for a shared ancestral mutation.

Gong Y, Chitayat D, Kerr B, Chen T, Babul-Hirji R, Pal A, Reiss M, Warman ML.

Am J Hum Genet. 1999 Feb;64(2):570-7.PMID: 9973295 [PubMed - indexed for MEDLINE]Related articlesFree article

Familial brachydactyly and chondrocalcinosis. Report of a patient, pedigree and review of the literature.

Mathews JL, Samuelson CO Jr, Manis S.

J Rheumatol. 1983 Oct;10(5):819-22.PMID: 6644710 [PubMed - indexed for MEDLINE]Related articles

Inversion region for hypertension and brachydactyly on chromosome 12p features multiple splicing and noncoding RNA.

Bähring S, Kann M, Neuenfeld Y, Gong M, Chitayat D, Toka HR, Toka O, Plessis G, Maass P, Rauch A, Aydin A, Luft FC.

Hypertension. 2008 Feb;51(2):426-31. Epub 2007 Dec 17.PMID: 18086950 [PubMed - indexed for MEDLINE]Related articlesFree article

Brachydactyly.

Temtamy SA, Aglan MS.

Orphanet J Rare Dis. 2008 Jun 13;3:15. Review.PMID: 18554391 [PubMed - indexed for MEDLINE]Related articlesFree article

Corneal changes, hyperkeratosis, short stature, brachydactyly, and premature birth: a new autosomal dominant syndrome.

Stern JK, Lubinsky MS, Durrie DS, Luckasen JR.

Am J Med Genet. 1984 May;18(1):67-77.PMID: 6234802 [PubMed - indexed for MEDLINE]Related articles