American Journal of Medical Genetics Part C: Seminars in Medical Genetics - 2010

55 articles | Last updated: 2025-12-03 14:12:55

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The behavioral phenotype of <i>FMR1</i> mutations
Cognitive‐behavioral features of Wolf–Hirschhorn syndrome and other subtelomeric microdeletions
Advances in understanding behavioral phenotypes in neurogenetic syndromes
Pharmacological treatment of disruptive behavior in Smith–Magenis syndrome
The behavioral phenotype of Williams syndrome: A recognizable pattern of neurodevelopment
The behavioral phenotype of the Angelman syndrome
Neurobehavioral phenotype in Prader–Willi syndrome
Behavioral features in young adults with FG syndrome (Opitz–Kaveggia syndrome)
Autism spectrum features in Smith–Magenis syndrome
Mouse models of cognitive disabilities in trisomy 21 (Down syndrome)
The behavioral phenotype of the idic(15) syndrome
Introduction: Behavioral phenotypes in neurogenetic syndromes
Mechanisms of imprint dysregulation
Imprinting on chromosome 20: Tissue‐specific imprinting and imprinting mutations in the<i>GNAS</i>locus
Russell–Silver syndrome
Imprinted genes and human disease
Uniparental disomy and human disease: An overview
Transient neonatal diabetes mellitus type 1
Prader–Willi syndrome and Angelman syndrome
Beckwith–Wiedemann syndrome
Auditory function and hearing loss in children and adults with Williams syndrome: Cochlear impairment in individuals with otherwise normal hearing
Longitudinal course of anxiety in children and adolescents with Williams syndrome
High prevalence of diabetes and pre‐diabetes in adults with Williams syndrome
Introduction: Williams syndrome
Animal models of Williams syndrome
Inversion of the Williams syndrome region is a common polymorphism found more frequently in parents of children with Williams syndrome
Sensory modulation impairments in children with Williams syndrome
Cognitive and behavioral characteristics of children with Williams syndrome: Implications for intervention approaches
Alpha 1 antitrypsin deficiency alleles are associated with joint dislocation and scoliosis in Williams syndrome
Genetic counseling of adults with Williams syndrome: A first study
Cyclopia (synophthalmia) in Smith–Lemli–Opitz syndrome: First reported case and consideration of mechanism
Early pathogenesis of holoprosencephaly
Neuropathology of holoprosencephaly
Holoprosencephaly due to numeric chromosome abnormalities
Parental perspectives on living with a child with HoPE
Non‐genetic risk factors for holoprosencephaly
Holoprosencephaly and ectrodactyly: Report of three new patients and review of the literature
Management of children with holoprosencephaly
Roles of bone morphogenetic protein signaling and its antagonism in holoprosencephaly
The molecular genetics of holoprosencephaly
Genesis of teratogen‐induced holoprosencephaly in mice
Risk factors for non‐syndromic holoprosencephaly in the National Birth Defects Prevention Study
Holoprosencephaly and holoprosencephaly‐like phenotypes: Review of facial and molecular findings in patients from a craniofacial hospital in Brazil
Introduction to the American Journal of Medical Genetics Part C on holoprosencephaly
Epidemiology of holoprosencephaly: Prevalence and risk factors							✓	✓	Blacks; Hispanics; Pakistanis; Japanese; 'less favored minorities'; 'ethnic variations'
Holoprosencephaly and craniosynostosis: A report of two siblings and review of the literature
Holoprosencephaly and agnathia spectrum: Presentation of two new patients and review of the literature
Neuroimaging advances in holoprosencephaly: Refining the spectrum of the midline malformation
Holoprosencephaly flashcards: A summary for the clinician
Genetic counseling and “molecular” prenatal diagnosis of holoprosencephaly (HPE)
Holoprosencephaly: An update on cytogenetic abnormalities
Current recommendations for the molecular evaluation of newly diagnosed holoprosencephaly patients
Analysis of genotype–phenotype correlations in human holoprosencephaly
Abnormal sterol metabolism in holoprosencephaly
Holoprosencephaly: A mythologic and teratologic distillate