Distinctive phenotype in 9 patients with deletion of chromosome 1q24-q25

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

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

De novo deletion of 1q24.3-q31.2 in a patient with severe growth retardation

(2010) Akira Nishimura et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Two concurrent chromosomal aberrations involving interstitial deletion in 1q24.2q25.2 and inverted duplication and deletion in 10q26 in a patient with stroke associated with antithrombin deficiency and a patent foramen ovale

(2010) Tetsuya Kibe et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Interstitial deletion of chromosome 1 (q23-25). Report of a case

(2010) Margherita Cirillo Silengo et al.   CLINICAL GENETICS

Two cases of interstitial deletion of the long arm of chromosome 1: del(1)(q21 → q25) and del(1)(q41 → q43)

(2010) F. A. Beemer et al.   CLINICAL GENETICS

Interstitial deletion of the long arm of chromosome 1, del(1)(q21-q25) in a profoundly retarded 8-year-old girl with multiple anomalies

(2010) A. Schinzel et al.   CLINICAL GENETICS

Paternally inherited microdeletion at 15q11.2 confirms a significant role for the SNORD116 C/D box snoRNA cluster in Prader–Willi syndrome

(2010) Angela L Duker et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Novel CENPJ mutation causes Seckel syndrome

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

Identification of a previously unrecognized microdeletion syndrome of 16q11.2q12.2

(2009) BC Ballif et al.   CLINICAL GENETICS

Speech delays and behavioral problems are the predominant features in individuals with developmental delays and 16p11.2 microdeletions and microduplications

(2009) Jill A. Rosenfeld et al.   Journal of Neurodevelopmental Disorders

Myelin Proteomics: Molecular Anatomy of an Insulating Sheath

(2009) Olaf Jahn et al.   MOLECULAR NEUROBIOLOGY

Microdeletion of 6q16.1 encompassing EPHA7 in a child with mild neurological abnormalities and dysmorphic features: case report

(2009) Ryan N Traylor et al.   Molecular Cytogenetics

Molecular characterization of a patient with an interstitial 1q deletion [del(1)(q24.1q25.3)] and distinctive skeletal abnormalities

(2008) Maria Descartes et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Dnm3os, a non-coding RNA, is required for normal growth and skeletal development in mice

(2008) Tokumitsu Watanabe et al.   DEVELOPMENTAL DYNAMICS

Mutations in the Pericentrin (PCNT) Gene Cause Primordial Dwarfism

(2008) A. Rauch et al.   SCIENCE