Found: 146
Select item for more details and to access through your institution.
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
- By:
- 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
Profiling PI3K-AKT-MTOR variants in focal brain malformations reveals new insights for diagnostic care.
- Published in:
- 2022
- By:
- Publication type:
- journal 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
- By:
- 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
- By:
- Publication type:
- Article
A de novo GRIN1 Variant Associated With Myoclonus and Developmental Delay: From Molecular Mechanism to Rescue Pharmacology.
- Published in:
- Frontiers in Genetics, 2021, v. 12, p. 1, doi. 10.3389/fgene.2021.694312
- By:
- 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
- By:
- 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
- By:
- 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
- By:
- 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
- By:
- 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
- By:
- Publication type:
- Article
Approach to overgrowth syndromes in the genome era.
- Published in:
- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2019, v. 181, n. 4, p. 483, doi. 10.1002/ajmg.c.31757
- By:
- 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
- By:
- 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
- By:
- Publication type:
- Article
Costello syndrome: Clinical phenotype, genotype, and management guidelines.
- Published in:
- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 9, p. 1725, doi. 10.1002/ajmg.a.61270
- By:
- Publication type:
- Article
SLC35A2‐CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.
- Published in:
- Human Mutation, 2019, v. 40, n. 7, p. 908, doi. 10.1002/humu.23731
- By:
- 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
- By:
- 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
- By:
- Publication type:
- Article
Autosomal‐dominant early‐onset spastic paraparesis with brain calcification due to IFIH1 gain‐of‐function.
- Published in:
- Human Mutation, 2018, v. 39, n. 8, p. 1076, doi. 10.1002/humu.23554
- By:
- Publication type:
- Article
Homozygous TAF8 mutation in a patient with intellectual disability results in undetectable TAF8 protein, but preserved RNA polymerase II transcription.
- Published in:
- Human Molecular Genetics, 2018, v. 27, n. 12, p. 2171, doi. 10.1093/hmg/ddy126
- By:
- Publication type:
- Article
De novo and inherited private variants in MAP1B in periventricular nodular heterotopia.
- Published in:
- PLoS Genetics, 2018, v. 14, n. 5, p. 1, doi. 10.1371/journal.pgen.1007281
- By:
- 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
- By:
- Publication type:
- Article
Early-Life Epilepsies and the Emerging Role of Genetic Testing.
- Published in:
- JAMA Pediatrics, 2017, v. 171, n. 9, p. 863, doi. 10.1001/jamapediatrics.2017.1743
- By:
- Publication type:
- Article
Correction: Human mutations in integrator complex subunits link transcriptome integrity to brain development.
- Published in:
- 2017
- By:
- Publication type:
- Correction Notice
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
- By:
- Publication type:
- Article
Human mutations in integrator complex subunits link transcriptome integrity to brain development.
- Published in:
- PLoS Genetics, 2017, v. 13, n. 5, p. 1, doi. 10.1371/journal.pgen.1006809
- By:
- Publication type:
- Article
Characterizing the Pattern of Anomalies in Congenital Zika Syndrome for Pediatric Clinicians.
- Published in:
- JAMA Pediatrics, 2017, v. 171, n. 3, p. 288, doi. 10.1001/jamapediatrics.2016.3982
- By:
- 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
- By:
- 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
- By:
- Publication type:
- Article
Description of 13 Infants Born During October 2015-January 2016 With Congenital Zika Virus Infection Without Microcephaly at Birth - Brazil.
- Published in:
- 2016
- By:
- Publication type:
- journal article
Consensus Paper: Cerebellar Development.
- Published in:
- Cerebellum, 2016, v. 15, n. 6, p. 789, doi. 10.1007/s12311-015-0724-2
- By:
- Publication type:
- Article
Anatomical configurations associated with posthemorrhagic hydrocephalus among premature infants with intraventricular hemorrhage.
- Published in:
- Neurosurgical Focus, 2016, v. 41, n. 5, p. 1, doi. 10.3171/2016.8.FOCUS16241
- By:
- 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
- By:
- Publication type:
- Article
Catenin delta-1 (CTNND1) phosphorylation controls the mesenchymal to epithelial transition in astrocytic tumors.
- Published in:
- Human Molecular Genetics, 2016, v. 25, n. 19, p. 4201, doi. 10.1093/hmg/ddw253
- By:
- 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
- By:
- Publication type:
- Article
Genetic Basis of Brain Malformations.
- Published in:
- Molecular Syndromology, 2016, v. 7, n. 4, p. 220, doi. 10.1159/000448639
- By:
- Publication type:
- Article
Identification and Characterization of a Novel Constitutional PIK3CA Mutation in a Child Lacking the Typical Segmental Overgrowth of ' PIK3CA-Related Overgrowth Spectrum'.
- Published in:
- Human Mutation, 2016, v. 37, n. 3, p. 242, doi. 10.1002/humu.22933
- By:
- Publication type:
- Article
Weaver Syndrome-Associated EZH2 Protein Variants Show Impaired Histone Methyltransferase Function In Vitro.
- Published in:
- Human Mutation, 2016, v. 37, n. 3, p. 301, doi. 10.1002/humu.22946
- By:
- Publication type:
- 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
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
- By:
- Publication type:
- Article
Mandibulofacial Dysostosis with Microcephaly: Mutation and Database Update.
- Published in:
- Human Mutation, 2016, v. 37, n. 2, p. 148, doi. 10.1002/humu.22924
- By:
- 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
- By:
- 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
- By:
- Publication type:
- Article
ISDN2014_0157: Modeling human PIK3CA‐related congenital brain overgrowth and epilepsy in mice.
- Published in:
- International Journal of Developmental Neuroscience, 2015, v. 47, p. 46, doi. 10.1016/j.ijdevneu.2015.04.131
- By:
- Publication type:
- Article
Recognizable cerebellar dysplasia associated with mutations in multiple tubulin genes.
- Published in:
- Human Molecular Genetics, 2015, v. 24, n. 18, p. 5313, doi. 10.1093/hmg/ddv250
- By:
- Publication type:
- Article
PI3K/AKT pathway mutations cause a spectrum of brain malformations from megalencephaly to focal cortical dysplasia.
- Published in:
- 2015
- By:
- Publication type:
- journal article
Semiquantitative analysis of hypothalamic damage on MRI predicts risk for hypothalamic obesity.
- Published in:
- Obesity (19307381), 2015, v. 23, n. 6, p. 1226, doi. 10.1002/oby.21067
- By:
- 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
- By:
- Publication type:
- 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
- By:
- Publication type:
- Article
PIK3CA-related overgrowth spectrum (PROS): Diagnostic and testing eligibility criteria, differential diagnosis, and evaluation.
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 2, p. 287, doi. 10.1002/ajmg.a.36836
- By:
- Publication type:
- Article