Refining the phenotype associated with CASC5 mutation

Severe presentation ofWDR62mutation: Is there a role for modifying genetic factors?

(2014) Cathryn J. Poulton et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Mutations in CENPE define a novel kinetochore-centromeric mechanism for microcephalic primordial dwarfism

(2014) Ghayda M. Mirzaa et al.   HUMAN GENETICS

Mutation in PHC1 implicates chromatin remodeling in primary microcephaly pathogenesis

(2013) Salma Awad et al.   HUMAN MOLECULAR GENETICS

CDK6 associates with the centrosome during mitosis and is mutated in a large Pakistani family with primary microcephaly

(2013) Muhammad S. Hussain et al.   HUMAN MOLECULAR GENETICS

A Truncating Mutation of CEP135 Causes Primary Microcephaly and Disturbed Centrosomal Function

(2012) Muhammad Sajid Hussain et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Microcephaly Gene Links Trithorax and REST/NRSF to Control Neural Stem Cell Proliferation and Differentiation

(2012) Yawei J. Yang et al.   CELL

Kinetochore KMN network gene CASC5 mutated in primary microcephaly

(2012) A. Genin et al.   HUMAN MOLECULAR GENETICS

Whole-exome sequencing identifies compound heterozygous mutations in WDR62 in siblings with recurrent polymicrogyria

(2011) David R. Murdock et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Mutations in WDR62, encoding a centrosomal and nuclear protein, in Indian primary microcephaly families with cortical malformations

(2011) V Bhat et al.   CLINICAL GENETICS

Protein Interaction Domain Mapping of Human Kinetochore Protein Blinkin Reveals a Consensus Motif for Binding of Spindle Assembly Checkpoint Proteins Bub1 and BubR1

(2011) T. Kiyomitsu et al.   MOLECULAR AND CELLULAR BIOLOGY

Structure of a Blinkin-BUBR1 Complex Reveals an Interaction Crucial for Kinetochore-Mitotic Checkpoint Regulation via an Unanticipated Binding Site

(2011) Victor M. Bolanos-Garcia et al.   STRUCTURE

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

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

The MIS12 complex is a protein interaction hub for outer kinetochore assembly

(2010) Arsen Petrovic et al.   JOURNAL OF CELL BIOLOGY

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

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

(2010) Kaya Bilgüvar et al.   NATURE

CEP152 is a genome maintenance protein disrupted in Seckel syndrome

(2010) Ersan Kalay et al.   NATURE GENETICS

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

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 associated with microcephaly and simplified cortical gyration in a consanguineous Algerian family

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

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 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

KNL1 and the CENP-H/I/K Complex Coordinately Direct Kinetochore Assembly in Vertebrates

(2007) Iain M. Cheeseman et al.   MOLECULAR BIOLOGY OF THE CELL