Literature DB >> 13637554

Microcephaly in the Netherlands: a clinical and genetical study.

J VAN DEN BOSCH.   

Abstract

Entities:  

Keywords:  MICROCEPHALY

Mesh：

Year:  1959        PMID： 13637554     DOI： 10.1111/j.1469-1809.1958.tb01455.x

Source DB:  PubMed          Journal:  Ann Hum Genet        ISSN： 0003-4800            Impact factor:   1.670


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  17 in total

1.  Primary autosomal recessive microcephaly: homozygosity mapping of MCPH4 to chromosome 15.

Authors:  C R Jamieson; C Govaerts; M J Abramowicz
Journal:  Am J Hum Genet       Date:  1999-11       Impact factor: 11.025

2.  Primary Microcephaly with Novel Variant of MCPH1 Gene in Twins: Both Manifesting in Childhood at the Same Time with Hashimoto's Thyroiditis.

Authors:  Piero Pavone; Xena Giada Pappalardo; Andrea Domenico Praticò; Agata Polizzi; Martino Ruggieri; Maria Piccione; Giovanni Corsello; Raffaele Falsaperla
Journal:  J Pediatr Genet       Date:  2020-04-23

3.  Primary autosomal recessive microcephaly (MCPH1) maps to chromosome 8p22-pter.

Authors:  A P Jackson; D P McHale; D A Campbell; H Jafri; Y Rashid; J Mannan; G Karbani; P Corry; M I Levene; R F Mueller; A F Markham; N J Lench; C G Woods
Journal:  Am J Hum Genet       Date:  1998-08       Impact factor: 11.025

4.  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

5.  Apparent microcephaly caused by a bicornuate uterus.

Authors:  R M Winter; J Dearlove; H Jolly; M Pawson; R G Wilson
Journal:  Br Med J (Clin Res Ed)       Date:  1983-05-21

Review 6.  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

7.  Primary autosomal recessive microcephaly: MCPH5 maps to 1q25-q32.

Authors:  C R Jamieson; J P Fryns; J Jacobs; G Matthijs; M J Abramowicz
Journal:  Am J Hum Genet       Date:  2000-11-06       Impact factor: 11.025

8.  Protein-truncating mutations in ASPM cause variable reduction in brain size.

Authors:  Jacquelyn Bond; Sheila Scott; Daniel J Hampshire; Kelly Springell; Peter Corry; Marc J Abramowicz; Ganesh H Mochida; Raoul C M Hennekam; Eamonn R Maher; Jean-Pierre Fryns; Abdulrahman Alswaid; Hussain Jafri; Yasmin Rashid; Ammar Mubaidin; Christopher A Walsh; Emma Roberts; C Geoffrey Woods
Journal:  Am J Hum Genet       Date:  2003-10-21       Impact factor: 11.025

9.  A biometric analysis of brain size in micrencephalics.

Authors:  M A Hofman
Journal:  J Neurol       Date:  1984       Impact factor: 4.849

Review 10.  Autosomal Recessive Primary Microcephaly (MCPH): clinical manifestations, genetic heterogeneity and mutation continuum.

Authors:  Saqib Mahmood; Wasim Ahmad; Muhammad J Hassan
Journal:  Orphanet J Rare Dis       Date:  2011-06-13       Impact factor: 4.123
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