Literature DB >> 14192065

MANIFESTATIONS OF A RECESSIVE GENE FOR MICROCEPHALY IN A POPULATION ISOLATE.

H W KLOEPFER, R V PLATOU, W J HANSCHE.   

Abstract

Keywords:  ETHNOLOGY; GENETICS, HUMAN; LOUISIANA; MENTAL RETARDATION; MICROCEPHALY

Mesh：

Year:  1964        PMID： 14192065

Source DB:  PubMed          Journal:  J Genet Hum        ISSN： 0021-7743


× No keyword cloud information.
  8 in total

1.  [Chromosomal instability in homo- and heterocygocity for microcephalia vera )author's transl)].

Authors:  W Vormittag; E Kunze-Mühl; M Weninger
Journal:  Humangenetik       Date:  1975

2.  Molecular analysis of 23 Pakistani families with autosomal recessive primary microcephaly using targeted next-generation sequencing.

Authors:  Rongrong Wang; Amjad Khan; Shirui Han; Xue Zhang
Journal:  J Hum Genet       Date:  2016-10-27       Impact factor: 3.172

3.  Familial bird-headed dwarfism (Seckel's syndrome).

Authors:  J J Sauk; R Litt; C E Espiritu; J R Delaney
Journal:  J Med Genet       Date:  1973-06       Impact factor: 6.318

4.  [Familial microcephalies due to cerebral malformation. Anatomical and clinical study].

Authors:  O Robain; G Lyon
Journal:  Acta Neuropathol       Date:  1972       Impact factor: 17.088

Review 5.  Autosomal recessive primary microcephaly (MCPH): a review of clinical, molecular, and evolutionary findings.

Authors:  C Geoffrey Woods; Jacquelyn Bond; Wolfgang Enard
Journal:  Am J Hum Genet       Date:  2005-03-31       Impact factor: 11.025

6.  Congenital malformations and developmental disabilities in ataxia-telangiectasia, Fanconi anemia, and xeroderma pigmentosum families.

Authors:  K Welshimer; M Swift
Journal:  Am J Hum Genet       Date:  1982-09       Impact factor: 11.025

Review 7.  Molecular genetics of human primary microcephaly: an overview.

Authors:  Muhammad Faheem; Muhammad Imran Naseer; Mahmood Rasool; Adeel G Chaudhary; Taha A Kumosani; Asad Muhammad Ilyas; Peter Pushparaj; Farid Ahmed; Hussain A Algahtani; Mohammad H Al-Qahtani; Hasan Saleh Jamal
Journal:  BMC Med Genomics       Date:  2015-01-15       Impact factor: 3.063

8.  A novel non sense mutation in WDR62 causes autosomal recessive primary microcephaly: a case report.

Authors:  Imane Cherkaoui Jaouad; Abdelali Zrhidri; Wafaa Jdioui; Jaber Lyahyai; Laure Raymond; Grégory Egéa; Mohamed Taoudi; Said El Mouatassim; Abdelaziz Sefiani
Journal:  BMC Med Genet       Date:  2018-07-18       Impact factor: 2.103
  8 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.