Found: 67
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Multiple congenital anomalies in two fetuses with glutathione‐synthetase deficit (GSS).
- Published in:
- Clinical Genetics, 2024, v. 106, n. 6, p. 776, doi. 10.1111/cge.14613
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- Publication type:
- Article
Cardiac characteristics and long-term outcome in Andersen-Tawil syndrome patients related to KCNJ2 mutation.
- Published in:
- 2013
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- Publication type:
- Journal Article
Cardiac characteristics and long-term outcome in Andersen–Tawil syndrome patients related to KCNJ2 mutation.
- Published in:
- EP: Europace, 2013, v. 15, n. 12, p. 1805, doi. 10.1093/europace/eut160
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- Publication type:
- Article
Incomplete Timothy syndrome secondary to a mosaic mutation of the CACNA1C gene diagnosed using next-generation sequencing.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 2, p. 531, doi. 10.1002/ajmg.a.38045
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- Publication type:
- Article
Protéasomopathies neurodéveloppementales : une nouvelle classe de maladies du neurodéveloppement causées par une dysfonction du protéasome.
- Published in:
- Médecine Sciences, 2024, v. 40, n. 2, p. 176, doi. 10.1051/medsci/2023221
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- Publication type:
- Article
High HFE mutation incidence in idiopathic erythrocytosis.
- Published in:
- British Journal of Haematology, 2019, v. 185, n. 4, p. 794, doi. 10.1111/bjh.15631
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- Publication type:
- Article
A new mutation of ANO6 in two familial cases of Scott syndrome.
- Published in:
- British Journal of Haematology, 2018, v. 180, n. 5, p. 750, doi. 10.1111/bjh.14439
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- Publication type:
- Article
Truncating mutations in the last exon of NOTCH2 cause a rare skeletal disorder with osteoporosis.
- Published in:
- Nature Genetics, 2011, v. 43, n. 4, p. 306, doi. 10.1038/ng.778
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- Publication type:
- Article
Genome-wide association scan identifies a colorectal cancer susceptibility locus on chromosome 8q24.
- Published in:
- Nature Genetics, 2007, v. 39, n. 8, p. 989, doi. 10.1038/ng2089
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- Publication type:
- Article
Identification of SLC39A4, a gene involved in acrodermatitis enteropathica.
- Published in:
- Nature Genetics, 2002, v. 31, n. 3, p. 239
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- Publication type:
- Article
Adiposity, metabolites, and colorectal cancer risk: Mendelian randomization study.
- Published in:
- 2020
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- Publication type:
- journal article
Purplish granules as a cytological signature of cortical developmental disorders caused by pathogenic variants in WDR81.
- Published in:
- American Journal of Hematology, 2024, v. 99, n. 11, p. 2215, doi. 10.1002/ajh.27330
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- Publication type:
- Article
Three patients presenting with severe macrosomia and congenital hypertrophic cardiomyopathy: a case series.
- Published in:
- 2017
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- Publication type:
- journal article
Differential Roles of Hath1, MUC2 and P27Kip1 in Relation with Gamma-Secretase Inhibition in Human Colonic Carcinomas: A Translational Study.
- Published in:
- PLoS ONE, 2013, v. 8, n. 2, p. 1, doi. 10.1371/journal.pone.0055904
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- Publication type:
- Article
Genome-Wide Search for Gene-Gene Interactions in Colorectal Cancer.
- Published in:
- PLoS ONE, 2012, v. 7, n. 12, p. 1, doi. 10.1371/journal.pone.0052535
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- Publication type:
- Article
Familial medullary thyroid carcinoma with noncysteine ret mutations: phenotype-genotype relationship in a large series of patients.
- Published in:
- 2001
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- Publication type:
- journal article
Correction to: Genetic variant predictors of gene expression provide new insight into risk of colorectal cancer.
- Published in:
- 2019
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- Publication type:
- Correction Notice
Genetic variant predictors of gene expression provide new insight into risk of colorectal cancer.
- Published in:
- Human Genetics, 2019, v. 138, n. 4, p. 307, doi. 10.1007/s00439-019-01989-8
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- Publication type:
- Article
A genome-wide association study for colorectal cancer identifies a risk locus in 14q23.1.
- Published in:
- Human Genetics, 2015, v. 134, n. 11/12, p. 1249, doi. 10.1007/s00439-015-1598-6
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- Publication type:
- Article
Nationwide French Study of RET Variants Detected from 2003 to 2013 Suggests a Possible Influence of Polymorphisms as Modifiers.
- Published in:
- Thyroid, 2017, v. 27, n. 12, p. 1511, doi. 10.1089/thy.2016.0399
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- Publication type:
- Article
MEM: An Algorithm for the Reliable Detection of Microsatellite Instability (MSI) on a Small NGS Panel in Colorectal Cancer.
- Published in:
- Cancers, 2021, v. 13, n. 16, p. 4203, doi. 10.3390/cancers13164203
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- Publication type:
- Article
Clinical utility gene card for: Leri-Weill dyschondrosteosis (LWD) and Langer mesomelic dysplasia (LMD).
- Published in:
- European Journal of Human Genetics, 2012, v. 20, n. 8, p. e1, doi. 10.1038/ejhg.2012.64
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- Publication type:
- Article
Clinical utility gene card for: Biotinidase deficiency.
- Published in:
- European Journal of Human Genetics, 2012, v. 20, n. 5, p. 1, doi. 10.1038/ejhg.2012.28
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- Publication type:
- Article
Clinical utility gene card for: acrodermatitis enteropathica.
- Published in:
- European Journal of Human Genetics, 2012, v. 20, n. 3, p. -1, doi. 10.1038/ejhg.2011.227
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- Publication type:
- Article
The Tunisian population history through the Crigler–Najjar type I syndrome.
- Published in:
- European Journal of Human Genetics, 2008, v. 16, n. 7, p. 848, doi. 10.1038/sj.ejhg.5201989
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- Publication type:
- Article
Functional informed genome‐wide interaction analysis of body mass index, diabetes and colorectal cancer risk.
- Published in:
- Cancer Medicine, 2020, v. 9, n. 10, p. 3563, doi. 10.1002/cam4.2971
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- Publication type:
- Article
High-Density of FcγRIIIA<sup>+</sup> (CD16<sup>+</sup>) Tumor-Associated Neutrophils in Metastases Improves the Therapeutic Response of Cetuximab in Metastatic Colorectal Cancer Patients, Independently of the HLA-E/CD94-NKG2A Axis.
- Published in:
- Frontiers in Oncology, 2021, v. 11, p. 1, doi. 10.3389/fonc.2021.684478
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- Publication type:
- Article
Circulating white blood cell traits and colorectal cancer risk: A Mendelian randomisation study.
- Published in:
- International Journal of Cancer, 2024, v. 154, n. 1, p. 94, doi. 10.1002/ijc.34691
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- Publication type:
- Article
Exploring the origins of neurodevelopmental proteasomopathies associated with cardiac malformations: are neural crest cells central to certain pathological mechanisms?
- Published in:
- Frontiers in Cell & Developmental Biology, 2024, p. 1, doi. 10.3389/fcell.2024.1370905
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- Publication type:
- Article
Diagnosis of exon 12‐positive polycythemia vera rescued by NGS.
- Published in:
- Clinical Case Reports, 2020, v. 8, n. 5, p. 790, doi. 10.1002/ccr3.2720
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- Publication type:
- Article
Encephalopathies with KCNC1 variants: genotype‐phenotype‐functional correlations.
- Published in:
- Annals of Clinical & Translational Neurology, 2019, v. 6, n. 7, p. 1263, doi. 10.1002/acn3.50822
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- Publication type:
- Article
Acrodermatitis Enteropathica: A Novel SLC39A4 Gene Mutation Found in a Patient with an Early-Onset.
- Published in:
- Pediatric Dermatology, 2011, v. 28, n. 6, p. 735, doi. 10.1111/j.1525-1470.2011.01487.x
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- Publication type:
- Article
Identification of a common variant with potential pleiotropic effect on risk of inflammatory bowel disease and colorectal cancer.
- Published in:
- Carcinogenesis, 2015, v. 36, n. 9, p. 999, doi. 10.1093/carcin/bgv086
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- Publication type:
- Article
Trans-ethnic genome-wide association study of colorectal cancer identifies a new susceptibility locus in VTI1A.
- Published in:
- Nature Communications, 2014, v. 5, n. 8, p. 4613, doi. 10.1038/ncomms5613
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- Publication type:
- Article
A new case of Kaufman Oculocerebrofacial syndrome caused by two splicing variants in UBE3B and review of the literature.
- Published in:
- Clinical Genetics, 2023, v. 103, n. 3, p. 377, doi. 10.1111/cge.14270
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- Publication type:
- Article
The first two non‐Finnish HYLS1 variants: Expanding the phenotypic spectrum of hydrolethalus syndrome.
- Published in:
- Clinical Genetics, 2021, v. 100, n. 4, p. 462, doi. 10.1111/cge.14021
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- Publication type:
- Article
Heterozygous HMGB1 loss‐of‐function variants are associated with developmental delay and microcephaly.
- Published in:
- Clinical Genetics, 2021, v. 100, n. 4, p. 386, doi. 10.1111/cge.14015
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- Publication type:
- Article
First French study relative to preconception genetic testing: 1500 general population participants' opinion.
- Published in:
- 2021
- By:
- Publication type:
- journal article
Mendelian randomisation study of age at menarche and age at menopause and the risk of colorectal cancer.
- Published in:
- 2018
- By:
- Publication type:
- journal article
A novel mutation in the transmembrane 6 domain of GABBR2 leads to a Rett-like phenotype.
- Published in:
- 2018
- By:
- Publication type:
- Letter
De novo loss-of-function KCNMA1 variants are associated with a new multiple malformation syndrome and a broad spectrum of developmental and neurological phenotypes.
- Published in:
- Human Molecular Genetics, 2019, v. 28, n. 17, p. 2937, doi. 10.1093/hmg/ddz117
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- Publication type:
- Article
DNA repair and cancer in colon and rectum: Novel players in genetic susceptibility.
- Published in:
- International Journal of Cancer, 2020, v. 146, n. 2, p. 363, doi. 10.1002/ijc.32516
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- Publication type:
- Article
Inherited variation in circadian rhythm genes and risks of prostate cancer and three other cancer sites in combined cancer consortia.
- Published in:
- International Journal of Cancer, 2017, v. 141, n. 9, p. 1794, doi. 10.1002/ijc.30883
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- Publication type:
- Article
HLA-E/β2 microglobulin overexpression in colorectal cancer is associated with recruitment of inhibitory immune cells and tumor progression.
- Published in:
- International Journal of Cancer, 2012, v. 131, n. 4, p. 855, doi. 10.1002/ijc.26453
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- Publication type:
- Article
ADAM15 to α5β1 integrin switch in colon carcinoma cells: A late event in cancer progression associated with tumor dedifferentiation and poor prognosis.
- Published in:
- International Journal of Cancer, 2012, v. 130, n. 2, p. 278, doi. 10.1002/ijc.25891
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- Publication type:
- Article
Fine-Mapping of Common Genetic Variants Associated with Colorectal Tumor Risk Identified Potential Functional Variants.
- Published in:
- PLoS ONE, 2016, v. 11, n. 7, p. 1, doi. 10.1371/journal.pone.0157521
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- Publication type:
- Article
A de novo pathogenic variant in the MSH6 gene in a 52 years-old woman.
- Published in:
- Familial Cancer, 2022, v. 21, n. 3, p. 319, doi. 10.1007/s10689-021-00274-w
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- Publication type:
- Article
Hierarchical clustering identifies a subgroup of colonic adenocarcinomas expressing crypt-like differentiation markers, associated with MSS status and better prognosis.
- Published in:
- Virchows Archiv: European Journal of Pathology, 2015, v. 466, n. 4, p. 383, doi. 10.1007/s00428-015-1724-9
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- Publication type:
- Article
Molecular misdiagnosis in type 2B von Willebrand disease.
- Published in:
- American Journal of Hematology, 2006, v. 81, n. 10, p. 805, doi. 10.1002/ajh.20661
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- Publication type:
- Article
Clinical Zinc Deficiency as Early Presentation of Wilson Disease.
- Published in:
- Journal of Pediatric Gastroenterology & Nutrition, 2015, v. 60, n. 4, p. 457, doi. 10.1097/MPG.0000000000000628
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- Publication type:
- Article