Highly unstable sequence interruptions of the CTG repeat in the myotonic dystrophy gene
Estimating the probability of de novo HD cases from transmissions of expanded penetrant CAG alleles in the Huntington disease gene from male carriers of high normal alleles (27-35 CAG)
Review of disrupted sleep patterns in Smith-Magenis syndrome and normal melatonin secretion in a patient with an atypical interstitial 17p11.2 deletion
Exclusion of candidate genes in seven Turkish families with autosomal recessive amelogenesis imperfecta
Is there epidemiologic evidence to support vascular disruption as a pathogenesis of gastroschisis?
Clinical and molecular characterization of duplications encompassing the human SHOX gene reveal a variable effect on stature
Etiology of Down syndrome
Narrowing critical regions and determining penetrance for selected 18q- phenotypes
High resolution genomic analysis of 18q− using oligo-microarray comparative genomic hybridization (aCGH)
Deletion of JAM-C , a candidate gene for heart defects in Jacobsen syndrome, results in a normal cardiac phenotype in mice
Genetic counseling and cardiac care in predictively tested hypertrophic cardiomyopathy mutation carriers
Identification of novel FBN1 and TGFBR2 mutations in 65 probands with Marfan syndrome or Marfan-like phenotypes
Qualitative descriptors of disease incidence
Somatic and germ-line mosaicism in Rubinstein-Taybi syndrome
Interstitial 11q deletion derived from a maternal ins(4;11)(p14;q24.2q25)
Hartsfield holoprosencephaly-ectrodactyly syndrome in five male patients
Clinical study of two brothers with a novel 33 bp duplication in the ARX gene
Boy with pseudohypoparathyroidism type 1a caused by GNAS gene mutation (deltaN377), Crouzon-like craniosynostosis, and severe trauma-induced bleeding
Al-Awadi/Raas-Rothschild/Schinzel (AARRS) phocomelia syndrome
Somatic mosaicism for Duchenne dystrophy
Multiple cysts of the corpus callosum and psychomotor delay in a patient with a 3.1 Mb 15q24.1q24.2 interstitial deletion identified by array-CGH
Joubert syndrome with bilateral polymicrogyria
Molecular cytogenetic characterization of two cases with constitutional distal 11q duplication/triplication
Two cases of trisomy 16 mosaicism ascertained postnatally
Congenital bilateral amazia associated with bilateral choanal atresia
Additional features in a new case of a girl presenting brachyphalangy, polydactyly and tibial aplasia/hypoplasia
Identification of a SUFU germline mutation in a family with Gorlin syndrome
Craniosynostosis in a patient with 2q37.3 deletion 5q34 duplication
A case of restrictive dermopathy with complete chorioamniotic membrane separation caused by a novel homozygous nonsense mutation in the ZMPSTE24 gene
Genetic counseling for teratogenic risk due to exposure to medications
A novel TP63 mutation in family with ADULT syndrome presenting with eczema and hypothelia
Unusual four-generation chromosome-22 rearrangement
Band-like intracranial calcification (BIC), microcephaly and malformation of brain development
Twin-twin transfusion resulting in fetal cell contamination in Beckwith-Wiedemann syndrome
A novel subtype of distal symphalangism affecting only the 4th finger
Molecular analysis of PRKAG2 , LAMP2 , and NKX2-5 genes in a cohort of 125 patients with accessory atrioventricular connection
A case of Asian Indian OCA3 patient
Characteristics and frequency of seizure disorder in 56 patients with Prader-Willi syndrome
Evaluation of folate metabolism gene polymorphisms as risk factors for open and closed neural tube defects
Oculocutaneous albinism spectrum
Maternally inherited heterozygous sequence change in the sonic hedgehog gene in a male patient with bilateral closed-lip schizencephaly and partial absence of the corpus callosum
Conjoined twins presenting with different sex
Poland syndrome with bilateral features
Book review
Book review
Book review
Elements of morphology
Response to letter from Professor Merlob and Dr. Klinger “Elements of Morphology
A boy with trisomy 13 presenting with a subtle clinical picture and metopic synostosis
The earliest description of an autopsy on a case of Roberts syndrome reported in 1672
Lelis Syndrome may be a manifestation of hypohidrotic ectodermal dysplasia