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Early-Lethal Costello Syndrome Due to Rare HRAS Tandem Base Substitution (c.35_36GC>AA; p.G12E)-Associated Pulmonary Vascular Disease.
- Published in:
- Pediatric & Developmental Pathology, 2014, v. 17, n. 6, p. 421, doi. 10.2350/14-05-1488-OA.1
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- Publication type:
- Article
Gene domain-specific DNA methylation episignatures highlight distinct molecular entities of ADNP syndrome.
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- 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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- 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.
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- 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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- 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.
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- 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.
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- 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.
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 1, p. 130, doi. 10.1002/ajmg.a.61394
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- Article
Costello syndrome: Clinical phenotype, genotype, and management guidelines.
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- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 9, p. 1725, doi. 10.1002/ajmg.a.61270
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- Article
Imaging phenotype of multiple mitochondrial dysfunction syndrome 2, a rare BOLA3‐associated leukodystrophy.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 12, p. 2787, doi. 10.1002/ajmg.a.40490
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- Article
Nonreentrant atrial tachycardia occurs independently of hypertrophic cardiomyopathy in RASopathy patients.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 8, p. 1711, doi. 10.1002/ajmg.a.38854
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- Publication type:
- Article
Further delineation of Aymé‐Gripp syndrome and use of automated facial analysis tool.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 7, p. 1648, doi. 10.1002/ajmg.a.38832
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- Article
Expanding the neurodevelopmental phenotype of PURA syndrome.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 1, p. 56, doi. 10.1002/ajmg.a.38521
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- Publication type:
- Article
Age-related differences in prevalence of autism spectrum disorder symptoms in children and adolescents with Costello syndrome.
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- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 5, p. 1294, doi. 10.1002/ajmg.a.38174
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- Publication type:
- Article
Phenotypic spectrum of Costello syndrome individuals harboring the rare HRAS mutation p.Gly13Asp.
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- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 5, p. 1309, doi. 10.1002/ajmg.a.38178
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- Publication type:
- Article
A novel patient with an attenuated Costello syndrome phenotype due to an HRAS mutation affecting codon 146-Literature review and update.
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- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 4, p. 1109, doi. 10.1002/ajmg.a.38118
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- Publication type:
- Article
Paternal Uniparental Disomy with Segmental Loss of Heterozygosity of Chromosome 11 are Hallmark Characteristics of Syndromic and Sporadic Embryonal Rhabdomyosarcoma.
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- American Journal of Medical Genetics. Part A, 2016, v. 170, n. 12, p. 3197, doi. 10.1002/ajmg.a.37949
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- Publication type:
- Article
Nephroblastomatosis or Wilms tumor in a fourth patient with a somatic PIK3CA mutation.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 10, p. 2559, doi. 10.1002/ajmg.a.37758
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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.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 9, p. 2237, doi. 10.1002/ajmg.a.37781
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- Article
The role of objective facial analysis using FDNA in making diagnoses following whole exome analysis. Report of two patients with mutations in the BAF complex genes.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 7, p. 1754, doi. 10.1002/ajmg.a.37672
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- Publication type:
- Article
The Fourth International Symposium on Genetic Disorders of the Ras/MAPK pathway.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 8, p. 1959, doi. 10.1002/ajmg.a.37723
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- Publication type:
- Article
36th Annual David W. Smith Workshop on Malformations and Morphogenesis: Abstracts of the 2015 annual meeting.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 7, p. 1665, doi. 10.1002/ajmg.a.37600
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- Publication type:
- Article
Paternal uniparental disomy 11p15.5 in the pancreatic nodule of an infant with Costello syndrome: Shared mechanism for hyperinsulinemic hypoglycemia in neonates with Costello and Beckwith-Wiedemann syndrome and somatic loss of heterozygosity in Costello syndrome driving clonal expansion
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 3, p. 559, doi. 10.1002/ajmg.a.37471
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- Publication type:
- Article
Differentiating between copy-number-variation and gain-of-function mutation.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 11, p. 2684, doi. 10.1002/ajmg.a.37220
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- Article
An attenuated phenotype of Costello syndrome in three unrelated individuals with a HRAS c.179G>A (p.Gly60Asp) mutation correlates with uncommon functional consequences.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 9, p. 2085, doi. 10.1002/ajmg.a.37128
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- Article
The third international meeting on genetic disorders in the RAS/MAPK pathway: Towards a therapeutic approach.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 8, p. 1741, doi. 10.1002/ajmg.a.37089
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- Publication type:
- Article
Truncating mutations in the last exon of NOTCH3 cause lateral meningocele syndrome.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 2, p. 271, doi. 10.1002/ajmg.a.36863
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- Article
Diamond-Blackfan anemia with mandibulofacial dystostosis is heterogeneous, including the novel DBA genes TSR2 and RPS28.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 9, p. 2240, doi. 10.1002/ajmg.a.36633
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- Article
Neuromotor synapses in Escobar syndrome.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 12, p. 3042, doi. 10.1002/ajmg.a.36154
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- Article
Expanding the SHOC2 mutation associated phenotype of noonan syndrome with loose anagen hair: Structural brain anomalies and myelofibrosis.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 10, p. 2420, doi. 10.1002/ajmg.a.36098
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- Article
Verbal memory functioning in adolescents and young adults with costello syndrome: Evidence for relative preservation in recognition memory.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 9, p. 2258, doi. 10.1002/ajmg.a.36078
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- Article
Orthopedic manifestations and implications for individuals with Costello syndrome Orthopedic manifestations and implications for individuals with Costello syndrome.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 8, p. 1940, doi. 10.1002/ajmg.a.36047
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- Article
The duplication 17p13.3 phenotype: Analysis of 21 families delineates developmental, behavioral and brain abnormalities, and rare variant phenotypes.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 8, p. 1833, doi. 10.1002/ajmg.a.35996
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- Publication type:
- Article
Exome Analysis in Clinical Practice: Expanding the Phenotype of Bartsocas-Papas Syndrome Exome Analysis in Clinical Practice: Expanding the Phenotype of Bartsocas-Papas Syndrome.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 5, p. 1058, doi. 10.1002/ajmg.a.35913
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- Article
Keratoconus in Costello Syndrome.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 5, p. 1132, doi. 10.1002/ajmg.a.35816
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- Article
Cardiac anomalies in Axenfeld-Rieger syndrome due to a novel FOXC1 mutation.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 1, p. 114, doi. 10.1002/ajmg.a.35697
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- Article
Normative growth charts for individuals with Costello syndrome.
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- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 11, p. 2692, doi. 10.1002/ajmg.a.35534
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- Article
Special section. Syndrome-specific growth charts.
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- 2012
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- Publication type:
- Editorial
Beyond Gómez-López-Hernández syndrome: Recurring phenotypic themes in rhombencephalosynapsis.
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- 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
A novel HRAS substitution (c.266C>G; p.S89C) resulting in decreased downstream signaling suggests a new dimension of RAS pathway dysregulation in human development.
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- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 9, p. 2106, doi. 10.1002/ajmg.a.35449
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- Article
Transmission of the rare HRAS mutation (c. 173C > T; p.T58I) further illustrates its attenuated phenotype.
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- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 5, p. 1095, doi. 10.1002/ajmg.a.35294
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- 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.
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- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 2, p. 269, doi. 10.1002/ajmg.a.34402
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- 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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- Article
De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes.
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- Nature Genetics, 2012, v. 44, n. 8, p. 934, doi. 10.1038/ng.2331
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- Publication type:
- Article