Found: 29
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Survival in prospectively ascertained familial breast cancer: Analysis of a series stratified by tumour characteristics, BRCA mutations and oophorectomy.
- Published in:
- International Journal of Cancer, 2002, v. 101, n. 6, p. 555, doi. 10.1002/ijc.10641
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- Publication type:
- Article
SLC12A2 variants cause a neurodevelopmental disorder or cochleovestibular defect.
- Published in:
- 2020
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- Publication type:
- journal article
Multiple Self-Healing Squamous Epithelioma (MSSE): A Digenic Trait Associated with Loss of Function Mutations in TGFBR1 and Variants at a Second Linked Locus on the Long Arm of Chromosome 9.
- Published in:
- Genes, 2020, v. 11, n. 12, p. 1410, doi. 10.3390/genes11121410
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- Publication type:
- Article
Prevalent and Rare Mutations in the Gene Encoding Filaggrin Cause Ichthyosis Vulgaris and Predispose Individuals to Atopic Dermatitis.
- Published in:
- Journal of Investigative Dermatology, 2006, v. 126, n. 8, p. 1770, doi. 10.1038/sj.jid.5700459
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- Publication type:
- Article
Common Mutations in Arg304 of the p63 Gene in Ectrodactyly, Ectodermal Dysplasia, Clefting Syndrome: Lack of Genotype–Phenotype Correlation and Implications for Mutation Detection Strategies.
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- Journal of Investigative Dermatology, 2002, v. 119, n. 5, p. 1202, doi. 10.1046/j.1523-1747.2002.19526.x
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- Publication type:
- Article
Corrigendum: Mutations in the DNA methyltransferase gene DNMT3A cause an overgrowth syndrome with intellectual disability.
- Published in:
- Nature Genetics, 2014, v. 46, n. 6, p. 657, doi. 10.1038/ng0614-657c
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- Publication type:
- Article
Mutations in the DNA methyltransferase gene DNMT3A cause an overgrowth syndrome with intellectual disability.
- Published in:
- Nature Genetics, 2014, v. 46, n. 4, p. 385, doi. 10.1038/ng.2917
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- Publication type:
- Article
Multiple self-healing squamous epithelioma is caused by a disease-specific spectrum of mutations in TGFBR1.
- Published in:
- Nature Genetics, 2011, v. 43, n. 4, p. 365, doi. 10.1038/ng.780
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- Publication type:
- Article
Common loss-of-function variants of the epidermal barrier protein filaggrin are a major predisposing factor for atopic dermatitis.
- Published in:
- Nature Genetics, 2006, v. 38, n. 4, p. 441, doi. 10.1038/ng1767
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- Publication type:
- Article
Loss-of-function mutations in the gene encoding filaggrin cause ichthyosis vulgaris.
- Published in:
- Nature Genetics, 2006, v. 38, n. 3, p. 337, doi. 10.1038/ng1743
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- Publication type:
- Article
The phenotype of Sotos syndrome in adulthood: A review of 44 individuals.
- Published in:
- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2019, v. 181, n. 4, p. 502, doi. 10.1002/ajmg.c.31738
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- Publication type:
- Article
Predicting breast cancer risk: implications of a “weak” family history.
- Published in:
- Familial Cancer, 2008, v. 7, n. 4, p. 361, doi. 10.1007/s10689-008-9197-5
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- Publication type:
- Article
Analysis of referrals to a multi-disciplinary breast cancer genetics clinic: practical and economic considerations.
- Published in:
- Familial Cancer, 2006, v. 5, n. 4, p. 297, doi. 10.1007/s10689-006-7849-x
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- Publication type:
- Article
Why do women not return family history forms when referred to breast cancer genetics services? A mixed-method study.
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- Health Expectations, 2015, v. 18, n. 5, p. 1735, doi. 10.1111/hex.12166
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- Publication type:
- Article
Phenotypic Comparison of Two Scottish Families with Mutations in Different Genes Causing Autosomal Dominant Nocturnal Frontal Lobe Epilepsy.
- Published in:
- Epilepsia (Series 4), 2003, v. 44, n. 4, p. 613, doi. 10.1046/j.1528-1157.2003.20102.x
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- Publication type:
- Article
Cantú syndrome: Report of nine new cases and expansion of the clinical phenotype.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 3, p. 508, doi. 10.1002/ajmg.a.33885
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- Publication type:
- Article
Mutations in the chromatin-associated protein ATRX.
- Published in:
- 2008
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- Publication type:
- Other
Biotinidase deficiency: Novel mutations and their biochemical and clinical correlates.
- Published in:
- Human Mutation, 2005, v. 25, n. 4, p. 413, doi. 10.1002/humu.9329
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- Publication type:
- Article
Nine novel L1 CAM mutations in families with X-linked hydrocephalus.
- Published in:
- Human Mutation, 1997, v. 9, n. 6, p. 512, doi. 10.1002/(SICI)1098-1004(1997)9:6<512::AID-HUMU3>3.0.CO;2-3
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- Publication type:
- Article
Multiple Self-Healing Squamous Epithelioma (MSSE): Rare Variants in an Adjacent Region of Chromosome 9q22.3 to Known TGFBR1 Mutations Suggest a Digenic or Multilocus Etiology.
- Published in:
- Journal of Investigative Dermatology, 2013, v. 133, n. 7, p. 1907, doi. 10.1038/jid.2013.45
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- Publication type:
- Article
Filaggrin Mutations Are Genetic Modifying Factors Exacerbating X-Linked Ichthyosis.
- Published in:
- Journal of Investigative Dermatology, 2007, v. 127, n. 12, p. 2795, doi. 10.1038/sj.jid.5700971
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- Publication type:
- Article
Multiple Self-Healing Squamous Epithelioma in Different Ethnic Groups: More than a Founder Mutation Disorder?
- Published in:
- Journal of Investigative Dermatology, 2007, v. 127, n. 10, p. 2336, doi. 10.1038/sj.jid.5700914
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- Publication type:
- Article
Non-Invasive Prenatal Diagnosis of Retinoblastoma Inheritance by Combined Targeted Sequencing Strategies.
- Published in:
- Journal of Clinical Medicine, 2020, v. 9, n. 11, p. 3517, doi. 10.3390/jcm9113517
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- Publication type:
- Article
Lifestyle Changes in Women at Genetic Risk of Breast Cancer: an Observational Study.
- Published in:
- International Journal of Behavioral Medicine, 2013, v. 20, n. 4, p. 514, doi. 10.1007/s12529-012-9263-0
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- Publication type:
- Article
Features of multiple self‐healing squamous epithelioma and Loeys‐Dietz syndrome in a patient with a novel TGFBR1 variant.
- Published in:
- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 12, p. 2892, doi. 10.1002/ajmg.a.40652
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- Publication type:
- Article
Familial hemiplegic migraine is associated with febrile seizures in an FHM2 family with a novel de novo ATP1A2 mutation.
- Published in:
- 2009
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- Publication type:
- Letter
Faecal haemoglobin concentration in adenoma, before and after polypectomy, approaches the ideal tumour marker.
- Published in:
- Annals of Clinical Biochemistry, 2022, v. 59, n. 4, p. 272, doi. 10.1177/00045632221080897
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- Publication type:
- Article
A Novel Mutation of NKX2-1 Affecting 2 Generations With Hypothyroidism and Choreoathetosis: Part of the Spectrum of Brain-Thyroid-Lung Syndrome.
- Published in:
- Journal of Child Neurology, 2014, v. 29, n. 5, p. 666, doi. 10.1177/0883073813518243
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- Publication type:
- Article
Sporadic implementation of UK familial mammographic surveillance guidelines 15 years after original publication.
- Published in:
- 2020
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- Publication type:
- journal article