33 results on '"Dobyns, William B."'
Search Results
2. Description of a new oncogenic mechanism for atypical teratoid rhabdoid tumors in patients with ring chromosome 22
3. Congenital microcephaly and chorioretinopathy due to de novo heterozygous KIF11 mutations: Five novel mutations and review of the literature
4. The Developmental Brain Disorders Database (DBDB): A curated neurogenetics knowledge base with clinical and research applications
5. Expansion of the TARP syndrome phenotype associated with de novo mutations and mosaicism
6. Expanding the SHOC2 mutation associated phenotype of noonan syndrome with loose anagen hair: Structural brain anomalies and myelofibrosis
7. The “megalencephaly-capillary malformation” (MCAP) syndrome: The nomenclature of a highly recognizable multiple congenital anomaly syndrome
8. The duplication 17p13.3 phenotype: Analysis of 21 families delineates developmental, behavioral and brain abnormalities, and rare variant phenotypes
9. Deletion 16p13.11 uncovers NDE1 mutations on the non-deleted homolog and extends the spectrum of severe microcephaly to include fetal brain disruption
10. Four new patients with Gomez–Lopez-Hernandez syndrome and proposed diagnostic criteria
11. Cerebellar and posterior fossa malformations in patients with autism-associated chromosome 22q13 terminal deletion
12. Beyond GóMez-López-HernÁndez Syndrome: Recurring Phenotypic Themes in Rhombencephalosynapsis
13. Megalencephaly-capillary malformation (MCAP) and megalencephaly-polydactyly-polymicrogyria-hydrocephalus (MPPH) syndromes: Two closely related disorders of brain overgrowth and abnormal brain and body morphogenesis
14. New Recessive Syndrome of Microcephaly, Cerebellar Hypoplasia, and Congenital Heart Conduction Defect
15. Long-term survival in TARP syndrome and confirmation of RBM10 as the disease-causing gene
16. The microcephaly-capillary malformation syndrome
17. Genetic and functional analyses identify DISC1 as a novel callosal agenesis candidate gene
18. Corpus callosum agenesis, severe mental retardation, epilepsy, and dyskinetic quadriparesis due to a novel mutation in the homeodomain of ARX
19. Phenotypic analysis of individuals with Costello syndrome due to HRAS p.G13C
20. Familial hydrocephalus with normal cognition and distinctive radiological features
21. X-linked hereditary hemihypotrophy hemiparesis hemiathetosis
22. Molecular and neuroimaging findings in pontocerebellar hypoplasia type 2 (PCH2): Is prenatal diagnosis possible?
23. Identification of genomic loci contributing to agenesis of the corpus callosum
24. Pontocerebellar hypoplasia type 6: A British case with PEHO-like features
25. Agenesis of the corpus callosum and congenital lymphedema: A novel recognizable syndrome?
26. Significant Overlap and Possible Identity of Macrocephaly Capillary Malformation and Megalencephaly Polymicrogyria-Polydactyly Hydrocephalus Syndromes
27. A Novel SIX3 Mutation Segregates With Holoprosencephaly in a Large Family
28. Consistent Chromosome Abnormalities Identify Novel Polymicrogyria Loci in 1p36.3, 2p16.1-p23.1, 4q21.21-q22.1, 6q26-q27, and 21q2
29. No major role for the EMX2 gene in schizencephaly
30. Neuroimaging findings in macrocephaly–capillary malformation: A longitudinal study of 17 patients
31. Brain anomalies in encephalocraniocutaneous lipomatosis
32. Identification of a novel recessive RELN mutation using a homozygous balanced reciprocal translocation
33. Polymicrogyria and deletion 22q11.2 syndrome: Window to the etiology of a common cortical malformation
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