Molecular and phenotypic spectrum ofASPM-related primary microcephaly: Identification of eight novel mutations-Reference-Cited by-同舟云学术

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Molecular and phenotypic spectrum ofASPM-related primary microcephaly: Identification of eight novel mutations

Published:2016-06-02 Issue:8 Volume:170 Page:2133-2140
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Abdel-Hamid Mohamed S.¹,Ismail Manal F.²,Darwish Hebatallh A.²,Effat Laila K.¹,Zaki Maha S.³,Abdel-Salam Ghada M. H.³

Affiliation:

1. Medical Molecular Genetics Department, Human Genetics and Genome Research Division; National Research Centre; Cairo Egypt

2. Biochemistry Department; Faculty of Pharmacy, Cairo University; Cairo Egypt

3. Clinical Genetics Department, Human Genetics and Genome Research Division; National Research Centre; Cairo Egypt

Funder

National Research Centre

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference28 articles.

1. Association of epilepsy with different groups of microcephaly;Abdel-Salam;Dev Med Child Neurol,2000

2. Congenital anomalies in Giza: A cross-sectional study;Abdel-Salam;Med J Cairo Univ,2009

3. Congenital microcephaly with a simplified gyral pattern: Associated findings and their significance;Adachi;AJNR Am J Neuroradiol,2011

4. Teratogenic effects of the Zika virus and the role of the placenta;Adibi;Lancet,2016

5. Exome sequencing overrides formal genetics: ASPM mutations in a case study of apparent X-linked microcephalic intellectual deficit;Ariani;Clin Genet,2013

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1. RNA methyltransferase SPOUT1/CENP-32 links mitotic spindle organization with the neurodevelopmental disorder SpADMiSS;2024-01-09

2. The neurological and non-neurological roles of the primary microcephaly-associated protein ASPM;Frontiers in Neuroscience;2023-08-03

3. Emerging Epidemiological Data on Rare Intellectual Disability Syndromes from Analyzing the Data of a Large Iranian Cohort;Archives of Iranian Medicine;2023-04-01

4. Congenital Microcephaly: A Debate on Diagnostic Challenges and Etiological Paradigm of the Shift from Isolated/Non-Syndromic to Syndromic Microcephaly;Cells;2023-02-16

5. Novel and recurrent ASPM mutations of founder effect in Chinese population;Brain and Development;2022-09

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