Autosomal recessive primary microcephaly (MCPH): clinical manifestations, genetic heterogeneity and mutation continuum

Mutations in Centrosomal Protein CEP152 in Primary Microcephaly Families Linked to MCPH4

(2010) Duane L. Guernsey et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Craniosynostosis-microcephaly with chromosomal breakage and other abnormalities is caused by a truncating MCPH1 mutation and is allelic to premature chromosomal condensation syndrome and primary autosomal recessive microcephaly type 1

(2010) Muhammad Farooq et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

CDK5RAP2 is required for spindle checkpoint function

(2010) Xiaoying Zhang et al.   CELL CYCLE

A clinical and molecular genetic study of 112 Iranian families with primary microcephaly

(2010) H. Darvish et al.   JOURNAL OF MEDICAL GENETICS

Novel CENPJ mutation causes Seckel syndrome

(2010) M. S. Al-Dosari et al.   JOURNAL OF MEDICAL GENETICS

Adaptive Evolution of Four Microcephaly Genes and the Evolution of Brain Size in Anthropoid Primates

(2010) S. H. Montgomery et al.   MOLECULAR BIOLOGY AND EVOLUTION

Whole-exome sequencing identifies recessive WDR62 mutations in severe brain malformations

(2010) Kaya Bilgüvar et al.   NATURE

Mutations in WDR62, encoding a centrosome-associated protein, cause microcephaly with simplified gyri and abnormal cortical architecture

(2010) Timothy W Yu et al.   NATURE GENETICS

WDR62 is associated with the spindle pole and is mutated in human microcephaly

(2010) Adeline K Nicholas et al.   NATURE GENETICS

Microcephaly with simplified gyral pattern: MRI classification

(2010) R. J. Vermeulen et al.   NEUROLOGY

Establishment of a Mouse Model with Misregulated Chromosome Condensation due to Defective Mcph1 Function

(2010) Marc Trimborn et al.   PLoS One

Mutations in mouse Aspm (abnormal spindle-like microcephaly associated) cause not only microcephaly but also major defects in the germline

(2010) J. N. Pulvers et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

BRIT1/MCPH1 Is Essential for Mitotic and Meiotic Recombination DNA Repair and Maintaining Genomic Stability in Mice

(2010) Yulong Liang et al.   PLoS Genetics

Mutations in STIL, Encoding a Pericentriolar and Centrosomal Protein, Cause Primary Microcephaly

(2009) Arun Kumar et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Compound heterozygous ASPM mutations in Pakistani MCPH families

(2009) Farooq Muhammad et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Compound heterozygous ASPM mutations associated with microcephaly and simplified cortical gyration in a consanguineous Algerian family

(2009) Abdelkrim Saadi et al.   European Journal of Medical Genetics

Mutation Analysis of the ASPM Gene in 18 Pakistani Families With Autosomal Recessive Primary Microcephaly

(2009) Rizwana Kousar et al.   JOURNAL OF CHILD NEUROLOGY

Expanding the clinical and neuroradiologic phenotype of primary microcephaly due to ASPM mutations

(2009) S. Passemard et al.   NEUROLOGY

Many roads lead to primary autosomal recessive microcephaly

(2009) Angela M. Kaindl et al.   PROGRESS IN NEUROBIOLOGY

Primary microcephaly: do all roads lead to Rome?

(2009) Gemma K. Thornton et al.   TRENDS IN GENETICS

Genetics and Biology of Microcephaly and Lissencephaly

(2009) Ganeshwaran H. Mochida   Seminars in Pediatric Neurology

Primary microcephaly with ASPM mutation shows simplified cortical gyration with antero-posterior gradient pre- and post-natally

(2008) Julie Desir et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Ionizing radiation downregulates ASPM, a gene responsible for microcephaly in humans

(2008) Akira Fujimori et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

Drosophila asterless and Vertebrate Cep152 Are Orthologs Essential for Centriole Duplication

(2008) S. Blachon et al.   GENETICS

A common SNP of MCPH1 is associated with cranial volume variation in Chinese population

(2008) Jin-kai Wang et al.   HUMAN MOLECULAR GENETICS

SAS-4 is recruited to a dynamic structure in newly forming centrioles that is stabilized by the γ-tubulin–mediated addition of centriolar microtubules

(2008) Alexander Dammermann et al.   JOURNAL OF CELL BIOLOGY

The molecular landscape of ASPM mutations in primary microcephaly

(2008) A K Nicholas et al.   JOURNAL OF MEDICAL GENETICS