Clinical Features in a 4 year old male with trisomy 8p23.3p11.1
, 2011
Recurrent 200-kb deletions of 16p11.2 that include the SH2B1 gene are associated with developmental delay and obesity.
Genetics in medicine : official journal of the American College of Medical Genetics
, Oct. 2010: 12(10)641-7
Recurrence of a 1 Mb 9q34.3 subtelomeric deletion in siblings detected by oligonucleotide array
, 2010
Macrocephaly, conductive hearing loss, atrial septal defect, and congenital radial head dislocation in a father and two sons
, 2010
FOXL2 copy number changes in the molecular pathogenesis of BPES: Unique cohort of 17 deletions
Human Mutation
, 2010: 31((5))E1332-E1347
Distal Phalanx and Nail Hypoplasia Associated with Osteopetrosis: Report of an Affected Mother and Son
, 2007
Marked phenotypic variability in progressive diaphyseal dysplasia (Camurati-Engelmann disease): report of a four-generation pedigree, identification of a mutation in TGFB1, and review.
American journal of medical genetics. Part A
, 2004 Sep 1: 129A(3)235-47
Progressive Diaphyseal Dysplasia (Camurati-Engelmann Disease): Report of a Four-Generation Pedigree, Review of the Literature, and Identification of a Mutation in TGFB1
, 2004
Marked Phenotype Variability in Progressive Diaphyseal Dysplasia (Camurati-Engelmann Disease): Report of a Four-Generation Pedigree, Identification of a Mutation in TGFBI, and Review
American Journal of Medical Genetics
, 2004: 129A(3)235-247
Progressive Diaphyseal Dysplasia (Camurati-Engelmann Disease): Report of a 6 Generation Pedigree with Remarkable Variation in Expressivity and a Review of the Literature
, 2001
Update on Camurati-Engelmann Disease
, 2000
Clinical Features of Camurati-Engelmann Disease
, 1999
Camurati-Engelmann Disease
GeneReviews at GeneTests: Medical Genetics Information Resource [database online] Available at http://www.genetests.org
, 1997 - 2010
Possible Roles of the Nucleus Prepositus Hypoglossi in Smooth-Pursuit Eye Movements
BIOS
, 1996: 66203-211
Camurati-Engelmann Disease
, 1993
Identification of a recurrent microdeletion of 3q13.2q13.31 associated with hypotonia and developmental delay
,