Found: 25
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Cerebrofacial vascular metameric syndrome is caused by somatic pathogenic variants in PIK3CA.
- Published in:
- Cold Spring Harbor Molecular Case Studies, 2021, v. 7, n. 6, p. 1, doi. 10.1101/mcs.a006147
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- Article
Clinical decision support with a comprehensive in-EHR patient tracking system improves genetic testing follow up.
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- Journal of the American Medical Informatics Association, 2023, v. 30, n. 7, p. 1274, doi. 10.1093/jamia/ocad070
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- Article
Gain and loss of function variants in EZH1 disrupt neurogenesis and cause dominant and recessive neurodevelopmental disorders.
- Published in:
- Nature Communications, 2023, v. 14, n. 1, p. 1, doi. 10.1038/s41467-023-39645-5
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- Article
Pathogenic variants in MDFIC cause recessive central conducting lymphatic anomaly with lymphedema.
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- Science Translational Medicine, 2022, v. 14, n. 634, p. 1, doi. 10.1126/scitranslmed.abm4869
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- Article
Kaposiform lymphangiomatosis effectively treated with MEK inhibition.
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- EMBO Molecular Medicine, 2020, v. 12, n. 10, p. 1, doi. 10.15252/emmm.202012324
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- Article
Segmental vasoconstricted patches with a border of telangiectasia.
- Published in:
- Pediatric Dermatology, 2023, v. 40, n. 3, p. 565, doi. 10.1111/pde.15227
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- Article
Misdiagnosis of capillary malformations in darker skin phototypes.
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- Pediatric Dermatology, 2021, v. 38, p. 137, doi. 10.1111/pde.14787
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- Article
Generalized, severe epidermolysis bullosa simplex caused by a Keratin 5 p.E477K mutation.
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- Pediatric Dermatology, 2019, v. 36, n. 6, p. 1007, doi. 10.1111/pde.13965
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- Article
Expanded phenotypic spectrum of JAG1‐associated diseases: Central conducting lymphatic anomaly with a pathogenic variant in JAG1.
- Published in:
- Clinical Genetics, 2021, v. 99, n. 5, p. 742, doi. 10.1111/cge.13915
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- Article
Pathogenic variants in PIK3CA are associated with clinical phenotypes of kaposiform lymphangiomatosis, generalized lymphatic anomaly, and central conducting lymphatic anomaly.
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- Pediatric Blood & Cancer, 2023, v. 70, n. 9, p. 1, doi. 10.1002/pbc.30419
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- Article
Proposed criteria for nevoid basal cell carcinoma syndrome in children assessed using statistical optimization.
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- Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-021-98752-9
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- Article
The importance of patient‐specific resources for families dealing with prenatal rare diseases.
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- American Journal of Medical Genetics. Part A, 2024, v. 194, n. 3, p. 1, doi. 10.1002/ajmg.a.63450
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- Article
Microcystic lymphatic malformations in Turner syndrome are due to somatic mosaicism of PIK3CA.
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- American Journal of Medical Genetics. Part A, 2024, v. 194, n. 1, p. 64, doi. 10.1002/ajmg.a.63385
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- Article
Mosaic pathogenic variants in AKT3 cause capillary malformation and undergrowth.
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- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 5, p. 1442, doi. 10.1002/ajmg.a.63121
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- Article
Trisomy 9 mosaic syndrome: Sixteen additional patients with new and/or less commonly reported features, literature review, and suggested clinical guidelines.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 8, p. 2374, doi. 10.1002/ajmg.a.62251
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- Article
Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann‐Steiner syndrome.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 6, p. 1649, doi. 10.1002/ajmg.a.62124
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- Article
Congenital polyvalvular disease expands the cardiac phenotype of the RASopathies.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 5, p. 1486, doi. 10.1002/ajmg.a.62146
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- Article
Genetic skin disorders: The value of a multidisciplinary clinic.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 4, p. 1159, doi. 10.1002/ajmg.a.62095
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- Article
Hyperinsulinism in an individual with an EP300 variant of Rubinstein-Taybi syndrome.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 4, p. 1251, doi. 10.1002/ajmg.a.62085
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- Article
Heterozygous recurrent HNF4A variant p.Arg85Trp causes Fanconi renotubular syndrome 4 with maturity onset diabetes of the young, an autosomal dominant phenocopy of Fanconi Bickel syndrome with colobomas.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 2, p. 566, doi. 10.1002/ajmg.a.61978
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- Article
Further delineation of the phenotypic spectrum of nevus comedonicus syndrome to include congenital pulmonary airway malformation of the lung and aneurysm.
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 4, p. 746, doi. 10.1002/ajmg.a.61490
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- Article
Muenke syndrome: Medical and surgical comorbidities and long‐term management.
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- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 8, p. 1442, doi. 10.1002/ajmg.a.61199
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- Article
Genotype–phenotype specificity in Menke–Hennekam syndrome caused by missense variants in exon 30 or 31 of CREBBP.
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- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 6, p. 1058, doi. 10.1002/ajmg.a.61131
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- Article
Cover Image, Volume 176A, Number 10, October 2018.
- Published in:
- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 10, p. i, doi. 10.1002/ajmg.a.60697
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- Article
What is new with 22q? An update from the 22q and You Center at the Children's Hospital of Philadelphia.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 10, p. 2058, doi. 10.1002/ajmg.a.40637
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- Article