Angelman syndrome 2005: Updated consensus for diagnostic criteria
AGTR2 in brain development and function
Dyggve–Melchior–Clausen syndrome and Smith–McCort dysplasia: Clinical and molecular findings in three families supporting genetic heterogeneity in Smith–McCort dysplasia
Delineation of a 2.2 Mb microdeletion at 5q35 associated with microcephaly and congenital heart disease
Clinical findings in 33 subjects with large supernumerary marker(15) chromosomes and 3 subjects with triplication of 15q11-q13
Minimal phenotype in a girl with trisomy 15q due to t(X;15)(q22.3;q11.2) translocation
Inverse association between severe nausea and vomiting in pregnancy and some congenital abnormalities
Genotype–phenotype correlation in hereditary hemorrhagic telangiectasia: Mutations and manifestations
Klinefelter syndrome and mediastinal germ cell tumors
A truncating mutation in the IL1RAPL1 gene is responsible for X-linked mental retardation in the MRX21 family
Characterization of two supernumerary marker chromosomes in a patient with signs of Klinefelter syndrome, mild facial anomalies, and severe speech delay
Molecular cytogenetic analysis of a de novo interstitial deletion of 5q23.3q31.2 and its phenotypic consequences
Case of chromosome 6p25 terminal deletion associated with Axenfeld–Rieger syndrome and persistent hyperplastic primary vitreous
Speech and language impairment and oromotor dyspraxia due to deletion of 7q31 that involves FOXP2
Role of leptin in regulating appetite, neuroendocrine function, and bone remodeling
Discordant encephalocele in monozygotic twins
The biallelic expression pattern of X-linked genes in Klinefelter syndrome by pyrosequencing
Chimerism in twins: Caution is needed in interpretation of karyotypes
Welcome to the genome. A user's guide to the genetic past, present, and future. By Rod DeSalle and Michael Yudell. Wiley-Liss, Hoboken, NJ, 2005, 215 p.
Extended mutational analyses of FGFR1 in osteoglophonic dysplasia