Found: 83
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Observation of a parental inversion variant in a rare Williams–Beuren syndrome family with two affected children.
- Published in:
- Human Genetics, 2005, v. 117, n. 4, p. 383, doi. 10.1007/s00439-005-1325-9
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- Publication type:
- Article
X-linked hypomyelination with spondylometaphyseal dysplasia (H-SMD) associated with mutations in AIFM1.
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- Neurogenetics, 2017, v. 18, n. 4, p. 185, doi. 10.1007/s10048-017-0520-x
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- Publication type:
- Article
Les recommandations en vigueur pour la prise en charge de l'acidocétose diabétique pédiatrique.
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- Paediatrics & Child Health (1205-7088), 2023, v. 28, n. 2, p. 133, doi. 10.1093/pch/pxac120
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- Publication type:
- Article
Current recommendations for management of paediatric diabetic ketoacidosis.
- Published in:
- Paediatrics & Child Health (1205-7088), 2023, v. 28, n. 2, p. 128, doi. 10.1093/pch/pxac119
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- Publication type:
- Article
PIAS4 is associated with macro/microcephaly in the novel interstitial 19p13.3 microdeletion/microduplication syndrome.
- Published in:
- European Journal of Human Genetics, 2015, v. 23, n. 12, p. 1615, doi. 10.1038/ejhg.2015.51
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- Publication type:
- Article
Mutations of AKT3 are associated with a wide spectrum of developmental disorders including extreme megalencephaly.
- Published in:
- 2017
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- Publication type:
- journal article
Decolonizing Global Surgery: Bethune Round Table, 2022 Conference on Global Surgery (virtual), June 16-18, 2022.
- Published in:
- 2022
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- Publication type:
- journal article
Implementation and evaluation of a curriculum on the assessment and treatment of disruptive behaviour disorders.
- Published in:
- Paediatrics & Child Health (1205-7088), 2021, v. 26, n. 8, p. 458, doi. 10.1093/pch/pxab008
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- Publication type:
- Article
Germline gain-of-function mutations in AFF4 cause a developmental syndrome functionally linking the super elongation complex and cohesin.
- Published in:
- Nature Genetics, 2015, v. 47, n. 4, p. 338, doi. 10.1038/ng.3229
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- Publication type:
- Article
De novo CCND2 mutations leading to stabilization of cyclin D2 cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome.
- Published in:
- Nature Genetics, 2014, v. 46, n. 5, p. 510, doi. 10.1038/ng.2948
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- Publication type:
- Article
Truncating mutations of MAGEL2 cause Prader-Willi phenotypes and autism.
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- Nature Genetics, 2013, v. 45, n. 11, p. 1405, doi. 10.1038/ng.2776
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- Publication type:
- Article
De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes.
- Published in:
- Nature Genetics, 2012, v. 44, n. 8, p. 934, doi. 10.1038/ng.2331
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- Publication type:
- Article
De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome.
- Published in:
- Nature Genetics, 2012, v. 44, n. 4, p. 440, doi. 10.1038/ng.1091
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- Publication type:
- Article
Gene domain-specific DNA methylation episignatures highlight distinct molecular entities of ADNP syndrome.
- Published in:
- Clinical Epigenetics, 2019, v. 11, n. 1, p. N.PAG, doi. 10.1186/s13148-019-0658-5
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- Publication type:
- Article
Central nervous system involvement in individuals with RASopathies.
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- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2022, v. 190, n. 4, p. 494, doi. 10.1002/ajmg.c.32023
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- Publication type:
- Article
Prenatal features of Costello syndrome: ultrasonographic findings and atrial tachycardia.
- Published in:
- Prenatal Diagnosis, 2009, v. 29, n. 7, p. 682, doi. 10.1002/pd.2276
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- Publication type:
- Article
Constitutional mismatch repair deficiency presenting in childhood as three simultaneous malignancies.
- Published in:
- Pediatric Blood & Cancer, 2013, v. 60, n. 11, p. E135, doi. 10.1002/pbc.24613
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- Publication type:
- Article
Mutations in TGIF cause holoprosencephaly and link NODAL signalling to human neural axis determination.
- Published in:
- Nature Genetics, 2000, v. 25, n. 2, p. 205, doi. 10.1038/76074
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- Publication type:
- Article
Early infantile epileptic encephalopathy due to biallelic pathogenic variants in PIGQ: Report of seven new subjects and review of the literature.
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- Journal of Inherited Metabolic Disease, 2020, v. 43, n. 6, p. 1321, doi. 10.1002/jimd.12278
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- Publication type:
- Article
Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders.
- Published in:
- Genome Medicine, 2017, v. 9, p. 1, doi. 10.1186/s13073-017-0463-8
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- Publication type:
- Article
De novo truncating mutations in ASXL3 are associated with a novel clinical phenotype with similarities to Bohring-Opitz syndrome.
- Published in:
- Genome Medicine, 2013, v. 5, n. 2, p. 1, doi. 10.1186/gm415
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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
Long-term survival in TARP syndrome and confirmation of RBM10 as the disease-causing gene.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 10, p. 2516, doi. 10.1002/ajmg.a.34190
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- Publication type:
- Article
Molecular confirmation of HRAS p.G12S in siblings with Costello syndrome.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 9, p. 2263, doi. 10.1002/ajmg.a.34150
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- Publication type:
- Article
Lateral meningocele syndrome and Hajdu-Cheney syndrome: Different disorders with overlapping phenotypes.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 7, p. 1773, doi. 10.1002/ajmg.a.34075
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- Publication type:
- Article
Distinctive phenotype in 9 patients with deletion of chromosome 1q24-q25.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 6, p. 1336, doi. 10.1002/ajmg.a.34049
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- Publication type:
- Article
Phenotypic analysis of individuals with Costello syndrome due to HRAS p.G13C.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 4, p. 706, doi. 10.1002/ajmg.a.33884
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- Publication type:
- Article
CNS imaging is a key diagnostic tool in the evaluation of patients with CFC syndrome: Two cases and literature review.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 3, p. 605, doi. 10.1002/ajmg.a.33787
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- Publication type:
- Article
Grade 1 microtia, wide anterior fontanel and novel type tracheo-esophageal fistula in methimazole embryopathy.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 3, p. 526, doi. 10.1002/ajmg.a.33705
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- Publication type:
- Article
Paternal bias in parental origin of HRAS mutations in Costello syndrome.
- Published in:
- Human Mutation, 2006, v. 27, n. 8, p. 736, doi. 10.1002/humu.20381
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- Publication type:
- Article
Mutations in the human TWIST gene.
- Published in:
- Human Mutation, 2000, v. 15, n. 5, p. 479, doi. 10.1002/(SICI)1098-1004(200005)15:5<479::AID-HUMU11>3.0.CO;2-X
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- Publication type:
- Article
Mutations in the human TWIST gene.
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- Human Mutation, 2000, v. 15, n. 2, p. 150, doi. 10.1002/(SICI)1098-1004(200002)15:2<150::AID-HUMU3>3.0.CO;2-D
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- Publication type:
- Article
Mutations in FAM50A suggest that Armfield XLID syndrome is a spliceosomopathy.
- Published in:
- Nature Communications, 2020, v. 11, n. 1, p. 1, doi. 10.1038/s41467-020-17452-6
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- Publication type:
- Article
Key Considerations for Selecting a Genomic Decision Support Platform for Implementing Pharmacogenomics.
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- Clinical Pharmacology & Therapeutics, 2021, v. 110, n. 3, p. 555, doi. 10.1002/cpt.2328
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- Publication type:
- Article
TAOK1 is associated with neurodevelopmental disorder and essential for neuronal maturation and cortical development.
- Published in:
- Human Mutation, 2021, v. 42, n. 4, p. 445, doi. 10.1002/humu.24176
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- Publication type:
- Article
Assessing the gene–disease association of 19 genes with the RASopathies using the ClinGen gene curation framework.
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- Human Mutation, 2018, v. 39, n. 11, p. 1485, doi. 10.1002/humu.23624
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- Publication type:
- Article
Mandibulofacial Dysostosis with Microcephaly: Mutation and Database Update.
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- Human Mutation, 2016, v. 37, n. 2, p. 148, doi. 10.1002/humu.22924
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- Publication type:
- Article
Novel biallelic ZNF335 variant causing primary microcephaly: A case report and radiological review.
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- American Journal of Medical Genetics. Part A, 2024, v. 194, n. 8, p. 1, doi. 10.1002/ajmg.a.63593
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- Publication type:
- Article
The 8th International RASopathies Symposium: Expanding research and care practice through global collaboration and advocacy.
- Published in:
- American Journal of Medical Genetics. Part A, 2024, v. 194, n. 4, p. 1, doi. 10.1002/ajmg.a.63477
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- Publication type:
- Article
Expansion of the clinical and molecular spectrum of WWOX‐related epileptic encephalopathy.
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- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 3, p. 776, doi. 10.1002/ajmg.a.63074
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- Publication type:
- Article
Craniosynostosis is a feature of Costello syndrome.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 4, p. 1280, doi. 10.1002/ajmg.a.62620
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- Publication type:
- Article
Novel genetic testing model: A collaboration between genetic counselors and nephrology.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 4, p. 1142, doi. 10.1002/ajmg.a.62088
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- Publication type:
- Article
41st Annual DavidW. Smith workshop on malformations and morphogenesis: Abstracts of the 2020 annual meeting.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 4, p. 1328, doi. 10.1002/ajmg.a.62062
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- Publication type:
- Article
Inherited intragenic PBX1 deletion: Expanding the phenotype.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 1, p. 234, doi. 10.1002/ajmg.a.61932
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- Publication type:
- Article
Advancing RAS/RASopathy therapies: An NCI‐sponsored intramural and extramural collaboration for the study of RASopathies.
- Published in:
- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 4, p. 866, doi. 10.1002/ajmg.a.61485
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- Publication type:
- Article
The sixth international RASopathies symposium: Precision medicine—From promise to practice.
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 3, p. 597, doi. 10.1002/ajmg.a.61434
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- Publication type:
- Article
Medically actionable comorbidities in adults with Costello syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 1, p. 130, doi. 10.1002/ajmg.a.61394
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- 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
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- Publication type:
- Article
Proceedings of the fifth international RASopathies symposium: When development and cancer intersect.
- Published in:
- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 12, p. 2924, doi. 10.1002/ajmg.a.40632
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- Publication type:
- Article
Imaging phenotype of multiple mitochondrial dysfunction syndrome 2, a rare BOLA3‐associated leukodystrophy.
- Published in:
- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 12, p. 2787, doi. 10.1002/ajmg.a.40490
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- Publication type:
- Article