Draft recommendations suggest HHS exempt gene patents from infringement liability
ACLU case against Myriad Genetics
College athletes should get sickle cell trait tests, NCAA advises
More African American genetic counselors needed
In this issue
Word smithing in medical genetics
Proceedings from the 2009 genetic syndromes of the Ras/MAPK pathway: From bedside to bench and back
Systematized organoid epidermal nevus with eccrine differentiation, multiple facial and oral congenital scars, gingival synechiae, and blepharophimosis: A novel epidermal nevus syndrome
Morphometric analysis and classification of the facial phenotype associated with fetal alcohol syndrome in 5- and 12-year-old children
Speech characteristics in neurofibromatosis type 1
The process of deciding about prophylactic surgery for breast and ovarian cancer: Patient questions, uncertainties, and communication
Polymorphisms in KCNE1 or KCNE3 are not associated with Ménière disease in the Caucasian population
Hypospadias in males with intrauterine growth restriction due to placental insufficiency: The placental role in the embryogenesis of male external genitalia
Living with Costello syndrome: Quality of life issues in older individuals
Analysis of short-term behavioral effects of dietary cholesterol supplementation in Smith-Lemli-Opitz syndrome
Diagnostic utility of daytime salivary melatonin levels in Smith-Magenis syndrome
Extending the phenotype of monosomy 1p36 syndrome and mapping of a critical region for obesity and hyperphagia
Ectodermal dysplasia-like syndrome with mental retardation due to contiguous gene deletion: Further clinical and molecular delineation of del(2q32) syndrome
An unusual severe vascular case of pseudoxanthoma elasticum presenting as generalized arterial calcification of infancy
Loss of N -acetylglucosamine-1-phosphotransferase gamma subunit due to intronic mutation in GNPTG causes mucolipidosis type III gamma: Implications for molecular and cellular diagnostics
Various types of LRP5 mutations in four patients with osteoporosis-pseudoglioma syndrome: Identification of a 7.2-kb microdeletion using oligonucleotide tiling microarray
A novel UBE3A truncating mutation in large Tunisian Angelman syndrome pedigree
Genetic counseling for schizophrenia: A review of referrals to a provincial medical genetics program from 1968 to 2007
Fowler syndrome-A clinical, radiological, and pathological study of 14 cases
Floating-Harbor syndrome associated with middle ear abnormalities
Novel cardiac findings in periventricular nodular heterotopia
Severe cleidocranial dysplasia and hypophosphatasia in a child with microdeletion of the C-terminal region of RUNX2
Deletion of the CUL4B gene in a boy with mental retardation, minor facial anomalies, short stature, hypogonadism, and ataxia
Two patients with EP300 mutations and facial dysmorphism different from the classic Rubinstein-Taybi syndrome
A paternally transmitted complex chromosomal rearrangement (CCR) involving chromosomes 2, 6, and 18 includes eight breakpoints and five insertional translocations (ITs) through three generations
Left ventricular noncompaction: A rare disorder in adults and its association with 1p36 chromosomal anomaly
A de novo 8.8-Mb deletion of 21q21.1-q21.3 in an autistic male with a complex rearrangement involving chromosomes 6, 10, and 21
Wolf-Hirschhorn syndrome and ectrodactyly: New findings and a review of the literature
Chromosome 6 between-arm intrachromosomal insertion with intrasegmental double inversion: A four-break model
Risk of breast cancer not increased in translocation 11;22 carriers: Analysis of 80 pedigrees
CHN1 mutations are not a common cause of sporadic Duane's retraction syndrome
An unusual phenotypic presentation of trisomy 18
Further evidence for EpCAM as the gene for congenital tufting enteropathy
GAPO syndrome associated with craniofacial vascular malformation
Variegated aneuploidy and ring chromosome syndromes overlap
An 18-year follow-up report on an infant with a duplication of 9q34
Ring chromosome 14 mosaicism: An unusual case associated with developmental delay and epilepsy, characterized by genome array-CGH
Phenotypic map in ring 14 syndrome
Hedgehog signaling: Endocrine gland development and function
Review of the recently defined molecular mechanisms underlying thanatophoric dysplasia and their potential therapeutic implications for achondroplasia
Book review
Mild Wolf-Hirschhorn phenotype in a girl with unbalanced t(4p;12p) translocation without seizures
Homozygosity for the common mutation c.1085dupT in the ZMPSTE24 gene in a Mennonite baby with restrictive dermopathy and placenta abruption
Holoprosencephaly-diencephalic hamartoma: Sequence or pleiotropy?
Holoprosencephaly-diencephalic hamartoma: Sequence or pleiotropy?