Found: 133
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Web-Based Platform vs Genetic Counselors in Educating Patients About Carrier Results From Exome Sequencing-Reply.
- Published in:
- 2018
- By:
- Publication type:
- journal article
Web Platform vs In-Person Genetic Counselor for Return of Carrier Results From Exome Sequencing: A Randomized Clinical Trial.
- Published in:
- 2018
- By:
- Publication type:
- journal article
A Limited Form of Proteus Syndrome With Bilateral Plantar Cerebriform Collagenomas and Varicose Veins Secondary to a Mosaic AKT1 Mutation.
- Published in:
- JAMA Dermatology, 2014, v. 150, n. 9, p. 990, doi. 10.1001/jamadermatol.2013.10368
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- Publication type:
- Article
The multifaceted challenges of Proteus syndrome.
- Published in:
- 2001
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- Publication type:
- journal article
Identification of microsatellite markers tightly linked to the Gli2 putative zinc finger transcription factor gene.
- Published in:
- Clinical Genetics, 1998, v. 53, n. 6, p. 488, doi. 10.1111/j.1399-0004.1998.tb02601.x
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- Publication type:
- Article
Lumping and splitting: molecular biology in the genetics clinic.
- Published in:
- Clinical Genetics, 1998, v. 53, n. 1, p. 3, doi. 10.1111/j.1399-0004.1998.tb02569.x
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- Publication type:
- Article
Preferences for and acceptability of receiving pharmacogenomic results by mail: A focus group study with a primarily African‐American cohort.
- Published in:
- Journal of Genetic Counseling, 2021, v. 30, n. 6, p. 1582, doi. 10.1002/jgc4.1424
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- Publication type:
- Article
Adaptation of the working alliance inventory for the assessment of the therapeutic alliance in genetic counseling.
- Published in:
- Journal of Genetic Counseling, 2021, v. 30, n. 1, p. 11, doi. 10.1002/jgc4.1378
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- Publication type:
- Article
The Greig cephalopolysyndactyly syndrome.
- Published in:
- Orphanet Journal of Rare Diseases, 2008, v. 3, p. 1, doi. 10.1186/1750-1172-3-10
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- Publication type:
- Article
Increased Burden of Rare Sequence Variants in GnRH-Associated Genes in Women With Hypothalamic Amenorrhea.
- Published in:
- 2021
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- Publication type:
- journal article
Hypothalamic Hamartomas and Seizures: Distinct Natural History of Isolated and Pallister-Hall Syndrome Cases.
- Published in:
- Epilepsia (Series 4), 2005, v. 46, n. 1, p. 42, doi. 10.1111/j.0013-9580.2005.68303.x
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- Publication type:
- Article
Correlation of rare coding variants in the gene encoding human glucokinase regulatory protein with phenotypic, cellular, and kinetic outcomes.
- Published in:
- Journal of Clinical Investigation, 2012, v. 122, n. 1, p. 205, doi. 10.1172/JCI46425
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- Publication type:
- Article
Phenotypic Features of Cystic Lung Disease in Proteus Syndrome: A Clinical Trial.
- Published in:
- Annals of the American Thoracic Society, 2022, v. 19, n. 11, p. 1871, doi. 10.1513/AnnalsATS.202111-1214OC
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- Publication type:
- Article
A dyadic genotype–phenotype approach to diagnostic criteria for Proteus syndrome.
- Published in:
- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2019, v. 181, n. 4, p. 565, doi. 10.1002/ajmg.c.31744
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- Publication type:
- Article
Thrombosis risk factors in PIK3CA‐related overgrowth spectrum and Proteus syndrome.
- Published in:
- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2019, v. 181, n. 4, p. 571, doi. 10.1002/ajmg.c.31735
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- Publication type:
- Article
Characterizing genetic variants for clinical action.
- Published in:
- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2014, v. 166C, n. 1, p. 93, doi. 10.1002/ajmg.c.31386
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- Publication type:
- Article
Genetic Testing and Other Healthcare Use by Black and White Individuals in a Genomic Sequencing Study.
- Published in:
- Public Health Genomics, 2023, v. 26, n. 1, p. 90, doi. 10.1159/000533356
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- Publication type:
- Article
Clinical and molecular heterogeneity of syndromic hypothalamic hamartoma.
- Published in:
- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 9, p. 2337, doi. 10.1002/ajmg.a.63306
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- Publication type:
- Article
Elements of morphology: Standard terminology for the trunk and limbs.
- Published in:
- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 11, p. 3191, doi. 10.1002/ajmg.a.62965
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- Publication type:
- Article
Late‐onset Proteus syndrome with cerebriform connective tissue nevus and subsequent development of intraductal papilloma.
- Published in:
- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 9, p. 2766, doi. 10.1002/ajmg.a.62761
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- Publication type:
- Article
Prophylactic anticoagulation of individuals with Proteus syndrome and COVID‐19.
- Published in:
- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 12, p. 2829, doi. 10.1002/ajmg.a.61861
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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
Characterization of the hepatosplenic and portal venous findings in patients with Proteus syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 12, p. 2677, doi. 10.1002/ajmg.a.40636
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- Publication type:
- Article
Characterization of thrombosis in patients with Proteus syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 9, p. 2359, doi. 10.1002/ajmg.a.38311
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- Publication type:
- Article
Nomenclature and definition in asymmetric regional body overgrowth.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 7, p. 1735, doi. 10.1002/ajmg.a.38266
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- Publication type:
- Article
Cover Image, Volume 173A, Number 7, July 2017.
- Published in:
- 2017
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- Publication type:
- Other
Somatic AKT1 mutations cause meningiomas colocalizing with a characteristic pattern of cranial hyperostosis.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 10, p. 2605, doi. 10.1002/ajmg.a.37737
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- Publication type:
- Article
GAUDEAMUS IGITUR...In gratitude to John Carey for his stewardship of the American Journal of Medical Genetics 2001-2016.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 10, p. 2501, doi. 10.1002/ajmg.a.37760
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- Publication type:
- Article
Lack of mutation-histopathology correlation in a patient with Proteus syndrome.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 6, p. 1422, doi. 10.1002/ajmg.a.37612
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- Publication type:
- Article
Clinical management of patients with ASXL1 mutations and Bohring-Opitz syndrome, emphasizing the need for Wilms tumor surveillance.
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 9, p. 2122, doi. 10.1002/ajmg.a.37131
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- Publication type:
- Article
PIK3CA-related overgrowth spectrum (PROS): Diagnostic and testing eligibility criteria, differential diagnosis, and evaluation.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 2, p. 287, doi. 10.1002/ajmg.a.36836
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- Publication type:
- Article
Invited editorial comment-the human phenotype of germline PIGA mutations.
- Published in:
- 2014
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- Publication type:
- Editorial
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
Cognitive, sensory, and psychosocial characteristics in patients with Bardet-Biedl syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 12, p. 2964, doi. 10.1002/ajmg.a.36245
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- Publication type:
- Article
Elements of morphology: General terms for congenital anomalies.
- Published in:
- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 11, p. 2726, doi. 10.1002/ajmg.a.36249
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- Publication type:
- Article
A de novo GLI 3 mutation in a patient with acrocallosal syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 6, p. 1394, doi. 10.1002/ajmg.a.35874
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- Publication type:
- Article
Elements of morphology: Standard terminology for the external genitalia.
- Published in:
- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 6, p. 1238, doi. 10.1002/ajmg.a.35934
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- Publication type:
- Article
Corrigendum to 'Elements of Morphology: Standard Terminology for the Hands and Feet. Am J Med Genet 2009 149A:93-127'.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 7, p. 1813, doi. 10.1002/ajmg.a.35326
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- Publication type:
- Article
Exome sequencing makes medical genomics a reality.
- Published in:
- Nature Genetics, 2010, v. 42, n. 1, p. 13, doi. 10.1038/ng0110-13
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- Publication type:
- Article
Phenotype matters.
- Published in:
- Nature Genetics, 2004, v. 36, n. 4, p. 323, doi. 10.1038/ng0404-323
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- Publication type:
- Article
Oculofaciocardiodental and Lenz microphthalmia syndromes result from distinct classes of mutations in BCOR.
- Published in:
- Nature Genetics, 2004, v. 36, n. 4, p. 411, doi. 10.1038/ng1321
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- Publication type:
- Article
Mutant deoxynucleotide carrier is associated with congenital microcephaly.
- Published in:
- Nature Genetics, 2002, v. 32, n. 1, p. 175, doi. 10.1038/ng948
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- Publication type:
- Article
Mutations in MKKS cause Bardet-Biedl syndrome.
- Published in:
- Nature Genetics, 2000, v. 26, n. 1, p. 15, doi. 10.1038/79116
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- Publication type:
- Article
Mutation of a gene encoding a putative chaperonin causes McKusick-Kaufman syndrome.
- Published in:
- Nature Genetics, 2000, v. 25, n. 1, p. 79, doi. 10.1038/75637
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- Publication type:
- Article
The new world of clinical genomics.
- Published in:
- 2012
- By:
- Publication type:
- Editorial
Patients with Bardet-Biedl syndrome have hyperleptinemia suggestive of leptin resistance.
- Published in:
- 2011
- By:
- Publication type:
- journal article
Future-oriented Emotions and Decisions to Receive Genomic Testing Results Among U.S. Adults of African Ancestry.
- Published in:
- 2023
- By:
- Publication type:
- journal article
Characterization of Courtesy Stigma Perceived by Parents of Overweight Children with Bardet-Biedl Syndrome.
- Published in:
- PLoS ONE, 2015, v. 10, n. 10, p. 1, doi. 10.1371/journal.pone.0140705
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- Publication type:
- Article
Characterizing Participants in the ClinSeq Genome Sequencing Cohort as Early Adopters of a New Health Technology.
- Published in:
- PLoS ONE, 2015, v. 10, n. 7, p. 1, doi. 10.1371/journal.pone.0132690
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- Publication type:
- Article
Dubowitz Syndrome Is a Complex Comprised of Multiple, Genetically Distinct and Phenotypically Overlapping Disorders.
- Published in:
- PLoS ONE, 2014, v. 9, n. 6, p. 1, doi. 10.1371/journal.pone.0098686
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- Publication type:
- Article