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Microcephaly, Primary Autosomal Recessive, 6
Known as:
MCPH6
, MICROCEPHALY 6, PRIMARY, AUTOSOMAL RECESSIVE
Â
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National Institutes of Health
Topic mentions per year
Topic mentions per year
2003-2014
0
1
2
3
2003
2014
Related topics
Related topics
3 relations
Autosomal recessive inheritance
Intellectual disability, moderate
Broader (1)
Microcephaly
Related mentions per year
Related mentions per year
1937-2018
1940
1960
1980
2000
2020
Microcephaly, Primary Autosomal Recessive, 6
Autosomal recessive inheritance
Microcephaly
Intellectual disability, moderate
Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
2014
2014
The oral-facial-digital syndrome gene C2CD3 encodes a positive regulator of centriole elongation
Christel Thauvin-Robinet
,
Jaclyn S. Lee
,
+26 authors
Maxence V Nachury
Nature Genetics
2014
Centrioles are microtubule-based, barrel-shaped structures that initiate the assembly of centrosomes and cilia. How centriole…Â
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2014
2014
Conserved TCP domain of Sas-4/CPAP is essential for pericentriolar material tethering during centrosome biogenesis.
Xiangdong Zheng
,
Li Ming Gooi
,
+13 authors
Jay Gopalakrishnan
Proceedings of the National Academy of Sciences…
2014
Pericentriolar material (PCM) recruitment to centrioles forms a key step in centrosome biogenesis. Deregulation of this process…Â
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2013
2013
Crystal structures of the CPAP/STIL complex reveal its role in centriole assembly and human microcephaly
Matthew A. Cottee
,
Nadine Muschalik
,
+7 authors
Mark van Breugel
eLife
2013
Centrioles organise centrosomes and template cilia and flagella. Several centriole and centrosome proteins have been linked to…Â
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2012
2012
Disruption of Mouse Cenpj, a Regulator of Centriole Biogenesis, Phenocopies Seckel Syndrome
Rebecca E. McIntyre
,
Pavithra Lakshminarasimhan Chavali
,
+20 authors
David J. Adams
PLoS genetics
2012
Disruption of the centromere protein J gene, CENPJ (CPAP, MCPH6, SCKL4), which is a highly conserved and ubiquitiously expressed…Â
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Highly Cited
2010
Highly Cited
2010
Mutations in centrosomal protein CEP152 in primary microcephaly families linked to MCPH4.
Duane L. Guernsey
,
Haiyan Jiang
,
+21 authors
Mark E. Samuels
American journal of human genetics
2010
Primary microcephaly is a rare condition in which brain size is substantially diminished without other syndromic abnormalities…Â
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2010
2010
A clinical and molecular genetic study of 112 Iranian families with primary microcephaly.
Heidar Darvish
,
Sahar Esmaeeli-Nieh
,
+23 authors
Hossein Najmabadi
Journal of medical genetics
2010
BACKGROUND Primary microcephaly (MCPH) is a genetically heterogeneous disorder showing an autosomal recessive mode of inheritance…Â
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2006
2006
Genetic studies of autosomal recessive primary microcephaly in 33 Pakistani families: novel sequence variants in ASPM gene
Asma Gul
,
Muhammad Jawad Hassan
,
+11 authors
Wasim Ahmad
Neurogenetics
2006
Human autosomal recessive primary microcephaly (MCPH) is a rare genetic disorder in which affected individuals are born with…Â
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2006
2006
A novel deletion mutation in CENPJ gene in a Pakistani family with autosomal recessive primary microcephaly
Asma Gul
,
Muhammad Jawad Hassan
,
Sabir Hussain
,
Syed Irfan Raza
,
Muhammad Salman Chishti
,
Wasim Ahmad
Journal of Human Genetics
2006
AbstractAutosomal recessive primary microcephaly (MCPH) is a rare human genetic disorder in which the head circumference is…Â
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2004
2004
Genetic analysis of primary microcephaly in Indian families: novel ASPM mutations.
Arun K. Kumar
,
Susan Halloran Blanton
,
M. Babu
,
Maharishi Markandaya
,
Sathish C. Girimaji
Clinical genetics
2004
Patients with primary microcephaly, an autosomal recessive trait, have mild to severe mental retardation without any other…Â
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2003
2003
A novel locus for autosomal recessive primary microcephaly (MCPH6) maps to 13q12.2.
Gabriella F Leal
,
Edward W. Roberts
,
E. O. Silva
,
Stefano Costa
,
D J Hampshire
,
C Geoffrey Woods
Journal of medical genetics
2003
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