Found: 132
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Microcephaly, sensorineural deafness and Currarino triad with duplication-deletion of distal 7q.
- Published in:
- 2010
- By:
- Publication type:
- journal article
Two Hundred Thirty-Six Children With Developmental Hydrocephalus.
- Published in:
- Journal of Child Neurology, 2016, v. 31, n. 3, p. 309, doi. 10.1177/0883073815592222
- By:
- Publication type:
- Article
Profiling PI3K-AKT-MTOR variants in focal brain malformations reveals new insights for diagnostic care.
- Published in:
- 2022
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- Publication type:
- journal article
PI3K/AKT pathway mutations cause a spectrum of brain malformations from megalencephaly to focal cortical dysplasia.
- Published in:
- 2015
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- Publication type:
- journal article
Novel mutations in ATP1A3 associated with catastrophic early life epilepsy, episodic prolonged apnea, and postnatal microcephaly.
- Published in:
- Epilepsia (Series 4), 2015, v. 56, n. 3, p. 422, doi. 10.1111/epi.12914
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- Publication type:
- Article
Epilepsy and outcome in FOXG1-related disorders.
- Published in:
- Epilepsia (Series 4), 2014, v. 55, n. 8, p. 1292, doi. 10.1111/epi.12648
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- Publication type:
- Article
The clinical patterns and molecular genetics of lissencephaly and subcortical band heterotopia.
- Published in:
- Epilepsia (Series 4), 2010, v. 51, p. 5, doi. 10.1111/j.1528-1167.2009.02433.x
- By:
- Publication type:
- Article
Mutation of FOXC1 and PITX2 induces cerebral small-vessel disease.
- Published in:
- 2014
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- Publication type:
- journal article
PRKDC mutations in a SCID patient with profound neurological abnormalities.
- Published in:
- Journal of Clinical Investigation, 2013, v. 123, n. 7, p. 2969, doi. 10.1172/JCI67349
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- Publication type:
- Article
Phenotypic outcomes in Mouse and Human Foxc1 dependent Dandy-Walker cerebellar malformation suggest shared mechanisms.
- Published in:
- eLife, 2017, p. 1, doi. 10.7554/eLife.20898
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- Publication type:
- Article
Mouse models of human PIK3CA-related brain overgrowth have acutely treatable epilepsy.
- Published in:
- eLife, 2015, p. 1, doi. 10.7554/eLife.12703
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- Publication type:
- Article
Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome.
- Published in:
- eLife, 2015, p. 1, doi. 10.7554/eLife.06602
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- Publication type:
- Article
SETD2 related overgrowth syndrome: Presentation of four new patients and review of the literature.
- Published in:
- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2019, v. 181, n. 4, p. 509, doi. 10.1002/ajmg.c.31746
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- Publication type:
- Article
Megalencephaly syndromes associated with mutations of core components of the PI3K‐AKT–MTOR pathway: PIK3CA, PIK3R2, AKT3, and MTOR.
- Published in:
- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2019, v. 181, n. 4, p. 582, doi. 10.1002/ajmg.c.31736
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- Publication type:
- Article
An update on oculocerebrocutaneous (Delleman‐Oorthuys) syndrome.
- Published in:
- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2018, v. 178, n. 4, p. 414, doi. 10.1002/ajmg.c.31667
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- Publication type:
- Article
Rhombencephalosynapsis: Fused cerebellum, confused geneticists.
- Published in:
- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2018, v. 178, n. 4, p. 432, doi. 10.1002/ajmg.c.31666
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- Publication type:
- Article
Megalencephaly Syndromes and Activating Mutations in the PI3K‐AKT Pathway: MPPH and MCAP.
- Published in:
- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2013, v. 163C, n. 2, p. 122, doi. 10.1002/ajmg.c.31361
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- Publication type:
- Article
66 A Recurrent Pattern of Posterior Vermis-Predominant Cerebellar Hypoplasia (Not Dandy-Walker) Occurring with Psychosis-Schizophrenia.
- Published in:
- 2023
- By:
- Publication type:
- Abstract
Undifferentiated psychosis or schizophrenia associated with vermis‐predominant cerebellar hypoplasia.
- Published in:
- American Journal of Medical Genetics. Part A, 2024, v. 194, n. 3, p. 1, doi. 10.1002/ajmg.a.63416
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- Publication type:
- Article
Proximal variants in CCND2 associated with microcephaly, short stature, and developmental delay: A case series and review of inverse brain growth phenotypes.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 9, p. 2719, doi. 10.1002/ajmg.a.62362
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- Publication type:
- Article
The spectrum of brain malformations and disruptions in twins.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 9, p. 2690, doi. 10.1002/ajmg.a.61972
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- Publication type:
- Article
Mary Ella Mascia Pierpont: Geneticist, scientist, mentor, friend (1945–2020).
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 2, p. 319, doi. 10.1002/ajmg.a.61963
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- Publication type:
- Article
Recurrent constellations of embryonic malformations re‐conceptualized as an overlapping group of disorders with shared pathogenesis.
- Published in:
- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 11, p. 2646, doi. 10.1002/ajmg.a.61847
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- Publication type:
- Article
Bilateral polymicrogyria associated with dystonia: A new neurogenetic syndrome?
- Published in:
- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 10, p. 2207, doi. 10.1002/ajmg.a.61795
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- Publication type:
- Article
Genotype–phenotype correlation at codon 1740 of SETD2.
- Published in:
- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 9, p. 2037, doi. 10.1002/ajmg.a.61724
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- Publication type:
- Article
Duplication 2p16 is associated with perisylvian polymicrogyria.
- Published in:
- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 12, p. 2343, doi. 10.1002/ajmg.a.61342
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- Publication type:
- Article
Structural malformations of the brain, eye, and pituitary gland in PHACE syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 1, p. 48, doi. 10.1002/ajmg.a.38523
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- Publication type:
- Article
Lissencephaly: Expanded imaging and clinical classification.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 6, p. 1473, doi. 10.1002/ajmg.a.38245
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- Publication type:
- Article
Description of a new oncogenic mechanism for atypical teratoid rhabdoid tumors in patients with ring chromosome 22.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 1, p. 245, doi. 10.1002/ajmg.a.37993
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- Publication type:
- Article
Update on the ACTG1-associated Baraitser-Winter cerebrofrontofacial syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 10, p. 2644, doi. 10.1002/ajmg.a.37771
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- Publication type:
- Article
A novel rasopathy caused by recurrent de novo missense mutations in PPP1CB closely resembles Noonan syndrome with loose anagen hair.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 9, p. 2237, doi. 10.1002/ajmg.a.37781
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- Publication type:
- Article
Corrigendum to 'Congenital microcephaly and chorioretinopathy due to de novo heterozygous KIF11 mutations: Five novel mutations and review of the literature. Am J Med Genet Part A 2014 164A:2879-86'.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 2, p. 547, doi. 10.1002/ajmg.a.37449
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- Publication type:
- Article
Familial Recurrences of FOXG1-Related Disorder: Evidence for Mosaicism.
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 12, p. 3096, doi. 10.1002/ajmg.a.37353
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- Publication type:
- Article
Congenital microcephaly and chorioretinopathy due to de novo heterozygous KIF11 mutations: Five novel mutations and review of the literature.
- Published in:
- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 11, p. 2879, doi. 10.1002/ajmg.a.36707
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- Publication type:
- Article
The Developmental Brain Disorders Database (DBDB): A curated neurogenetics knowledge base with clinical and research applications.
- Published in:
- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 6, p. 1503, doi. 10.1002/ajmg.a.36517
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- Publication type:
- Article
Expansion of the TARP syndrome phenotype associated with de novo mutations and mosaicism.
- Published in:
- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 1, p. 120, doi. 10.1002/ajmg.a.36212
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- Publication type:
- Article
Expanding the SHOC2 mutation associated phenotype of noonan syndrome with loose anagen hair: Structural brain anomalies and myelofibrosis.
- Published in:
- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 10, p. 2420, doi. 10.1002/ajmg.a.36098
- By:
- Publication type:
- Article
The 'megalencephaly-capillary malformation' (MCAP) syndrome: The nomenclature of a highly recognizable multiple congenital anomaly syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 8, p. 2115, doi. 10.1002/ajmg.a.35940
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- Publication type:
- Article
Deletion 16p13.11 uncovers NDE1 mutations on the non-deleted homolog and extends the spectrum of severe microcephaly to include fetal brain disruption.
- Published in:
- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 7, p. 1523, doi. 10.1002/ajmg.a.35969
- By:
- Publication type:
- Article
Four new patients with Gomez-Lopez-Hernandez syndrome and proposed diagnostic criteria.
- Published in:
- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 2, p. 320, doi. 10.1002/ajmg.a.35817
- By:
- Publication type:
- Article
Cerebellar and posterior fossa malformations in patients with autism-associated chromosome 22q13 terminal deletion.
- Published in:
- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 1, p. 131, doi. 10.1002/ajmg.a.35700
- By:
- Publication type:
- Article
Beyond Gómez-López-Hernández syndrome: Recurring phenotypic themes in rhombencephalosynapsis.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 10, p. 2393, doi. 10.1002/ajmg.a.35561
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- Publication type:
- Article
Megalencephaly-capillary malformation (MCAP) and megalencephaly-polydactyly-polymicrogyria-hydrocephalus (MPPH) syndromes: Two closely related disorders of brain overgrowth and abnormal brain and body morphogenesis.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 2, p. 269, doi. 10.1002/ajmg.a.34402
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- Publication type:
- Article
New recessive syndrome of microcephaly, cerebellar hypoplasia, and congenital heart conduction defect.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 12, p. 3035, doi. 10.1002/ajmg.a.34078
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- Publication type:
- Article
CHMP1A encodes an essential regulator of BMI1-INK4A in cerebellar development.
- Published in:
- Nature Genetics, 2012, v. 44, n. 11, p. 1260, doi. 10.1038/ng.2425
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- Publication type:
- Article
ISPD loss-of-function mutations disrupt dystroglycan O-mannosylation and cause Walker-Warburg syndrome.
- Published in:
- Nature Genetics, 2012, v. 44, n. 5, p. 575, doi. 10.1038/ng.2252
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- Publication type:
- Article
WDR62 is associated with the spindle pole and is mutated in human microcephaly.
- Published in:
- Nature Genetics, 2010, v. 42, n. 11, p. 1010, doi. 10.1038/ng.682
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- Publication type:
- Article
Mutations in WDR62, encoding a centrosome-associated protein, cause microcephaly with simplified gyri and abnormal cortical architecture.
- Published in:
- Nature Genetics, 2010, v. 42, n. 11, p. 1015, doi. 10.1038/ng.683
- By:
- Publication type:
- Article
FOXC1 is required for normal cerebellar development and is a major contributor to chromosome 6p25.3 Dandy-Walker malformation.
- Published in:
- Nature Genetics, 2009, v. 41, n. 9, p. 1037, doi. 10.1038/ng.422
- By:
- Publication type:
- Article
Corrigendum: Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum.
- Published in:
- 2008
- By:
- Publication type:
- Correction Notice