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Literature DB >> 4774535

Hereditary brachydactyly associated with hypertension.

N Bilginturan, S Zileli, S Karacadag, T Pirnar.

Abstract

Entities: Disease Mutation

Mesh：

Year: 1973 PMID： 4774535 PMCID： PMC1013029 DOI： 10.1136/jmg.10.3.253

Source DB: PubMed Journal: J Med Genet ISSN： 0022-2593 Impact factor: 6.318

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15 in total

Review 1. The molecular basis of blood pressure variation.

Authors: Hakan R Toka; Jacob M Koshy; Ali Hariri
Journal: Pediatr Nephrol Date: 2012-07-05 Impact factor: 3.714

Review 2. Mendelian forms of human hypertension and mechanisms of disease.

Authors: Friedrich C Luft
Journal: Clin Med Res Date: 2003-10

3. Brachydactyly short-stature hypertension syndrome: a case with associated vascular malformations.

Authors: Murat Derbent; Esra Baskin; Muhteşem Ağildere; Pinar Isik Agras; Umit Saatçi
Journal: Pediatr Nephrol Date: 2005-12-21 Impact factor: 3.714

4. A PDE3A mutation in familial hypertension and brachydactyly syndrome.

Authors: Hiroko Boda; Hidetoshi Uchida; Nobue Takaiso; Yuya Ouchi; Naoko Fujita; Asami Kuno; Tadayoshi Hata; Arisa Nagatani; Yuri Funamoto; Masafumi Miyata; Tetsushi Yoshikawa; Hiroki Kurahashi; Hidehito Inagaki
Journal: J Hum Genet Date: 2016-04-07 Impact factor: 3.172

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

Authors: S Bähring; T Nagai; H R Toka; I Nitz; O Toka; A Aydin; A Mühl; T F Wienker; H Schuster; F C Luft
Journal: Am J Hum Genet Date: 1997-03 Impact factor: 11.025

Hereditary brachydactyly associated with hypertension.

Review 1. The molecular basis of blood pressure variation.

Review 2. Mendelian forms of human hypertension and mechanisms of disease.

3. Brachydactyly short-stature hypertension syndrome: a case with associated vascular malformations.

4. A PDE3A mutation in familial hypertension and brachydactyly syndrome.

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

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

7. A new syndrome with ocular, skeletal and renal involvement.

8. Brachydactyly and polydactyly with dermal ridge dissociation and ridge hypoplasia.

Review 9. Genetics of arterial hypertension and hypotension.

10. Arterial hypertension with brachydactyly in a 15-year-old boy.