Literature DB >> 5504069

The cri du chat syndrome in adolescents and adults: clinical finding in 13 older patients with partial deletion of the short arm of chromosome No. 5(5p-).

W R Breg, M W Steele, O J Miller, D Warburton, A DeCapoa, P W Allderdice.   

Abstract

Entities:  

Mesh：

Year:  1970        PMID： 5504069     DOI： 10.1016/s0022-3476(70)80236-0

Source DB:  PubMed          Journal:  J Pediatr        ISSN： 0022-3476            Impact factor:   4.406


× No keyword cloud information.
  15 in total

1.  Chromosome survey of total population of mentally subnormal in North-East of Scotland.

Authors:  R M Speed; A W Johnston; H J Evans
Journal:  J Med Genet       Date:  1976-08       Impact factor: 6.318

2.  Deletion of the telomerase reverse transcriptase gene and haploinsufficiency of telomere maintenance in Cri du chat syndrome.

Authors:  Anju Zhang; Chengyun Zheng; Mi Hou; Charlotta Lindvall; Ke-Jun Li; Fredrik Erlandsson; Magnus Björkholm; Astrid Gruber; Elisabeth Blennow; Dawei Xu
Journal:  Am J Hum Genet       Date:  2003-03-10       Impact factor: 11.025

Review 3.  Malformations of kidney and urinary tract in common chromosomal aberrations. II. Morphogenetic studies.

Authors:  G Töndury
Journal:  Humangenetik       Date:  1973-03-23

4.  Cir-du-chat syndrome with an increased level of proline and threonine.

Authors:  U Kühner; M Büsse; G Buchinger
Journal:  Z Kinderheilkd       Date:  1974

5.  Localization of the deleted segment in the Cri-du-Chat syndrome.

Authors:  E Niebuhr
Journal:  Humangenetik       Date:  1972

6.  Molecular definition of deletions of different segments of distal 5p that result in distinct phenotypic features.

Authors:  D M Church; U Bengtsson; K V Nielsen; J J Wasmuth; E Niebuhr
Journal:  Am J Hum Genet       Date:  1995-05       Impact factor: 11.025

Review 7.  The Cri du Chat syndrome: epidemiology, cytogenetics, and clinical features.

Authors:  E Niebuhr
Journal:  Hum Genet       Date:  1978-11-16       Impact factor: 4.132

8.  The 8p- syndrome.

Authors:  J A Reiss; P M Brenes; J Chamberlin; R E Magenis; E W Lovrien
Journal:  Hum Genet       Date:  1979-03-12       Impact factor: 4.132

Review 9.  5p deletions: Current knowledge and future directions.

Authors:  Joanne M Nguyen; Krista J Qualmann; Rebecca Okashah; AmySue Reilly; Mikhail F Alexeyev; Dennis J Campbell
Journal:  Am J Med Genet C Semin Med Genet       Date:  2015-08-03       Impact factor: 3.908

10.  Contribution of magnetic resonance imaging to the knowledge of CNS malformations related to chromosomal aberrations.

Authors:  J C Tamraz; M O Rethoré; M T Iba-Zizen; J Lejeune; E A Cabanis
Journal:  Hum Genet       Date:  1987-07       Impact factor: 4.132
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.