In memoriam: Hooshang Taybi, M.D. (1919–2006)
Blepharophimosis, corneal vascularization, deafness, and acroosteolysis: A “new” syndrome?
A new genomic mechanism leading to cri-du-chat syndrome
Karyotype–phenotype insights from 11q14.1-q23.2 interstitial deletions: FZD4 haploinsufficiency and exudative vitreoretinopathy in a patient with a complex chromosome rearrangement
Clinical features and management issues in Mowat–Wilson syndrome
A syndrome of holoprosencephaly, recurrent infections, and monocytosis
A variable combination of features of Noonan syndrome and neurofibromatosis type I are caused by mutations in the NF1 gene
Detection of low-level mosaicism by array CGH in routine diagnostic specimens
Prenatal detection of subtelomeric rearrangements by multi-subtelomere FISH in a cohort of fetuses with major malformations
Phenotypic definition of Chiari type I malformation coupled with high-density SNP genome screen shows significant evidence for linkage to regions on chromosomes 9 and 15
High-throughput analysis of chromosome abnormality in spontaneous miscarriage using an MLPA subtelomere assay with an ancillary FISH test for polyploidy
Sudden infant death in a patient with FGFR3 P250R mutation
A new distal arthrogryposis syndrome characterized by plantar flexion contractures
A report of pure 7p duplication syndrome and review of the literature
Psychopathology in the Lujan–Fryns syndrome: Report of two patients and review
Neuropsychological evaluation in Lujan–Fryns syndrome: Commentary and clinical report
High incidence of short rib-polydactyly syndrome type IV in a Hungarian Roma subpopulation
Unusual dicentric chromosome 22 associated with a 22q13 deletion
Immunoglobulin deficiency in Stickler syndrome
Concordant partial urorectal septum malformation sequence in monozygotic twins
The G397A (E133K) change in the AGGF1 ( VG5Q ) gene is a single nucleotide polymorphism in the Spanish population
Hepatoblastoma in a patient with Goldenhar syndrome born to a diabetic mother
A microdeletion 22q11.2 can resemble Shprintzen–Goldberg omphalocele syndrome
Frontometaphyseal dysplasia: Mutations in FLNA and phenotypic diversity (Am J Med Genet 140A: 1726–1736)