126 results on '"Dobyns, William"'
Search Results
2. Expanding theKIF4A‐associated phenotype
3. Proximal variants inCCND2associated with microcephaly, short stature, and developmental delay: A case series and review of inverse brain growth phenotypes
4. Mary Ella Mascia Pierpont: Geneticist, scientist, mentor, friend (1945–2020)
5. The spectrum of brain malformations and disruptions in twins
6. Recurrent constellations of embryonic malformations re‐conceptualized as an overlapping group of disorders with shared pathogenesis
7. Bilateral polymicrogyria associated with dystonia: A new neurogenetic syndrome?
8. Genotype–phenotype correlation at codon 1740 ofSETD2
9. Activating variants inPDGFRBresult in a spectrum of disorders responsive to imatinib monotherapy
10. Approach to overgrowth syndromes in the genome era
11. Duplication 2p16 is associated with perisylvian polymicrogyria
12. SETD2 related overgrowth syndrome: Presentation of four new patients and review of the literature
13. Megalencephaly syndromes associated with mutations of core components of the PI3K‐AKT–MTOR pathway:PIK3CA,PIK3R2,AKT3, andMTOR
14. Costello syndrome: Clinical phenotype, genotype, and management guidelines
15. Rhombencephalosynapsis: Fused cerebellum, confused geneticists
16. An update on oculocerebrocutaneous (Delleman-Oorthuys) syndrome
17. Structural malformations of the brain, eye, and pituitary gland in PHACE syndrome
18. Lissencephaly: Expanded imaging and clinical classification
19. Update on the ACTG1-associated Baraitser-Winter cerebrofrontofacial syndrome
20. Description of a new oncogenic mechanism for atypical teratoid rhabdoid tumors in patients with ring chromosome 22
21. A novel rasopathy caused by recurrent de novo missense mutations inPPP1CBclosely resembles Noonan syndrome with loose anagen hair
22. Update on theACTG1-associated Baraitser-Winter cerebrofrontofacial syndrome
23. ISDN2014_0157: Modeling human PIK3CA‐related congenital brain overgrowth and epilepsy in mice
24. Corrigendum to “Congenital microcephaly and chorioretinopathy due to de novo heterozygousKIF11mutations: Five novel mutations and review of the literature. Am J Med Genet Part A 2014 164A:2879-86”
25. Familial recurrences ofFOXG1-related disorder: Evidence for mosaicism
26. Semiquantitative analysis of hypothalamic damage on MRI predicts risk for hypothalamic obesity
27. Novel mutations inATP1A3associated with catastrophic early life epilepsy, episodic prolonged apnea, and postnatal microcephaly
28. PIK3CA ‐related overgrowth spectrum (PROS): Diagnostic and testing eligibility criteria, differential diagnosis, and evaluation
29. Congenital microcephaly and chorioretinopathy due to de novo heterozygousKIF11mutations: Five novel mutations and review of the literature
30. Epilepsy and outcome inFOXG1-related disorders
31. The Developmental Brain Disorders Database (DBDB): A curated neurogenetics knowledge base with clinical and research applications
32. Expansion of the TARP syndrome phenotype associated with de novo mutations and mosaicism
33. Persistent figure-eight and side-to-side head shaking is a marker for rhombencephalosynapsis
34. Expanding the differential diagnosis of fetal hydrops: an unusual prenatal presentation of megalencephaly-capillary malformation syndrome
35. Expanding the SHOC2 mutation associated phenotype of noonan syndrome with loose anagen hair: Structural brain anomalies and myelofibrosis
36. The duplication 17p13.3 phenotype: Analysis of 21 families delineates developmental, behavioral and brain abnormalities, and rare variant phenotypes
37. The “megalencephaly-capillary malformation” (MCAP) syndrome: The nomenclature of a highly recognizable multiple congenital anomaly syndrome
38. Deletion 16p13.11 uncovers NDE1 mutations on the non‐deleted homolog and extends the spectrum of severe microcephaly to include fetal brain disruption
39. Megalencephaly Syndromes and Activating Mutations in the PI3K-AKT Pathway: MPPH and MCAP
40. Four new patients with Gomez-Lopez-Hernandez syndrome and proposed diagnostic criteria
41. Cerebellar and posterior fossa malformations in patients with autism‐associated chromosome 22q13 terminal deletion
42. Beyond Gómez‐López‐Hernández syndrome: Recurring phenotypic themes in rhombencephalosynapsis
43. Megalencephaly-capillary malformation (MCAP) and megalencephaly-polydactyly-polymicrogyria-hydrocephalus (MPPH) syndromes: Two closely related disorders of brain overgrowth and abnormal brain and body morphogenesis
44. New recessive syndrome of microcephaly, cerebellar hypoplasia, and congenital heart conduction defect
45. Long-term survival in TARP syndrome and confirmation ofRBM10as the disease-causing gene
46. The microcephaly-capillary malformation syndrome
47. Genetic and functional analyses identify DISC1 as a novel callosal agenesis candidate gene
48. Corpus callosum agenesis, severe mental retardation, epilepsy, and dyskinetic quadriparesis due to a novel mutation in the homeodomain of ARX
49. Phenotypic analysis of individuals with Costello syndrome due to HRAS p.G13C
50. Familial hydrocephalus with normal cognition and distinctive radiological features
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