Microarray-based CGH detects chromosomal mosaicism not revealed by conventional cytogenetics
Autosomal recessive mental retardation syndrome with anterior maxillary protrusion and strabismus: MRAMS syndrome
A 2-Mb critical region implicated in the microcephaly associated with terminal 1q deletion syndrome
Risk for cancer in patients with Bardet-Biedl syndrome and their relatives
GPC3 mutations in seven patients with Simpson–Golabi–Behmel syndrome
Recurrence risk in de novo structural chromosomal rearrangements
Meckel syndrome in the Hutterite population is actually a Joubert-related cerebello-oculo-renal syndrome
Non-Latin European descent could be a requirement for association of NTDs and MTHFR variant 677C>T: A meta-analysis
How does the collection of genetic test results affect research participants?
Variable expressivity in Patau syndrome is not all related to trisomy 13 mosaicism
Trisomy 13 and Meckel diverticulum: Challenges in management of infants with trisomy 13
Placental mesenchymal dysplasia associated with fetal overgrowth and mosaic deletion of the maternal copy of 11p15.5
Overlapping phenotype of Wolf–Hirschhorn and Beckwith–Wiedemann syndromes in a girl with der(4)t(4;11)(pter;pter)
Atypical teratoid/rhabdoid tumor in a patient with Beckwith–Wiedemann syndrome
Mental retardation and verbal dyspraxia in a new patient with de novo creatine transporter ( SLC6A8 ) mutation
Ovarian failure in ataxia with oculomotor apraxia type 2
Deletion 22q11.2: Report of a complex meiotic mechanism of origin
Osseous dysplasia with severe short stature, multiple dislocations, and delayed bone age: Report on a second Lebanese patient
A maneuver to assess the presence of metacarpal or metatarsal osseous syndactyly: A physical finding useful for the differential diagnosis of polydactyly
Chromosome abnormalities in two patients with features of autosomal dominant Robinow syndrome
Is the disruption of an N-myristoyltransferase ( NMT2 ) associated with hypoplastic testes?
De novo mutation of the DHCR7 gene in a fetus with severe Smith–Lemli–Opitz (or RSH) syndrome
A de novo nonsense mutation of PAX6 gene in a patient with aniridia, ataxia, and mental retardation
Renal–hepatic–pancreatic dysplasia: An autosomal recessive condition that is not linked to the PKHD1 gene on chromosome 6p21.1-p12
Gene–environment interactions: Fundamentals of ecogenetics. By Costa LG, Eaton DL, editors. Hoboken, NJ: John Wiley & Sons, 2006. 450 p. ISBN: 0-471-46781-2.
PCR-RFLP assay for 235delC mutation detection in non-syndromic hearing loss subjects
Systematic search for single nucleotide polymorphisms in a lymphoid tyrosine phosphatase gene ( PTPN22 ): Association between a promoter polymorphism and type 1 diabetes in Asian populations. American Journal of Medical Genetics 140A:586–593 (2006)