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Recurrent NF1 gene variants and their genotype/phenotype correlations in patients with Neurofibromatosis type I.
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- Genes, Chromosomes & Cancer, 2022, v. 61, n. 1, p. 10, doi. 10.1002/gcc.22997
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- Publication type:
- Article
Mismatch repair genes and mononucleotide tracts as mutation targets in colorectal tumors with different degrees of microsatellite instability.
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- Oncogene, 1998, v. 17, n. 2, p. 157, doi. 10.1038/sj.onc.1201944
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- Publication type:
- Article
Clinical and biologic heterogeneity of hereditary nonpolyposis colorectal cancer.
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- International Journal of Cancer, 2001, v. 95, n. 5, p. 323, doi. 10.1002/1097-0215(20010920)95:5<323::AID-IJC1056>3.0.CO;2-H
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- Publication type:
- Article
Microsatellite instability in multiple colorectal tumors.
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- International Journal of Cancer, 1999, v. 81, n. 1, p. 1, doi. 10.1002/(SICI)1097-0215(19990331)81:1<1::AID-IJC1>3.0.CO;2-K
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- Publication type:
- Article
The effect of carriers' reproductive choices and pregnancy history on sporadic severe haemophilia: A 20‐year retrospective study through a regional registry.
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- Haemophilia, 2022, v. 28, n. 2, p. 308, doi. 10.1111/hae.14490
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- Publication type:
- Article
Charcot–Marie–Tooth Disease with Myelin Protein Zero Mutation Presenting as Painful, Predominant Small-Fiber Neuropathy.
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- International Journal of Molecular Sciences, 2024, v. 25, n. 3, p. 1654, doi. 10.3390/ijms25031654
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- Article
Genetic Neonatal-Onset Epilepsies and Developmental/Epileptic Encephalopathies with Movement Disorders: A Systematic Review.
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- International Journal of Molecular Sciences, 2021, v. 22, n. 8, p. 4202, doi. 10.3390/ijms22084202
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- Article
Patterns of Novel Alleles and Genotype/Phenotype Correlations Resulting from the Analysis of 108 Previously Undetected Mutations in Patients Affected by Neurofibromatosis Type I.
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- International Journal of Molecular Sciences, 2017, v. 18, n. 10, p. 2071, doi. 10.3390/ijms18102071
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- Publication type:
- Article
Methylation pattern of different regions of the MLH1 promoter and silencing of gene expression in hereditary and sporadic colorectal cancer.
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- Genes, Chromosomes & Cancer, 2001, v. 31, n. 4, p. 357, doi. 10.1002/gcc.1154
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- Publication type:
- Article
Genomic instability and target gene mutations in colon cancers with different degrees of allelic shifts.
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- Genes, Chromosomes & Cancer, 2000, v. 27, n. 4, p. 424, doi. 10.1002/(SICI)1098-2264(200004)27:4<424::AID-GCC13>3.0.CO;2-M
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- Publication type:
- Article
Characterization of MSH2 and MLH1 mutations in Italian families with hereditary nonpolyposis colorectal cancer.
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- Genes, Chromosomes & Cancer, 1997, v. 18, n. 1, p. 8, doi. 10.1002/(SICI)1098-2264(199701)18:1<8::AID-GCC2>3.0.CO;2-7
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- Publication type:
- Article
First-trimester ultrasonographic diagnosis of Langer mesomelic dysplasia in a previously affected family.
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- 2011
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- Publication type:
- case study
First-trimester ultrasonographic diagnosis of Langer mesomelic dysplasia in a previouslyaffected family.
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- Prenatal Diagnosis, 2011, v. 31, n. 8, p. 830, doi. 10.1002/pd.2763
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- Publication type:
- Article
Melorheostosis and Osteopoikilosis Clinical and Molecular Description of an Italian Case Series.
- Published in:
- 2019
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- Publication type:
- journal article
MLH1 and MSH2 constitutinal mutations in colorectal cancer families not meeting the standard criteria for hereditary nonpolyposis colorectal cancer.
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- International Journal of Cancer, 1998, v. 75, n. 6, p. 835, doi. 10.1002/(SICI)1097-0215(19980316)75:6<835::AID-IJC4>3.0.CO;2-W
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- Publication type:
- Article
Survival analysis in families affected by hereditary non-polyposis colorectal cancer.
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- International Journal of Cancer, 1997, v. 71, n. 3, p. 373, doi. 10.1002/(SICI)1097-0215(19970502)71:3<373::AID-IJC12>3.0.CO;2-H
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- Publication type:
- Article
K- ras and p53 mutations in hereditary non-polyposis colorectal cancers.
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- International Journal of Cancer, 1997, v. 74, n. 1, p. 94, doi. 10.1002/(SICI)1097-0215(19970220)74:1<94::AID-IJC16>3.0.CO;2-I
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- Publication type:
- Article
Role of clinical criteria in the diagnosis of hereditary non-polyposis colorectal cancer (HNPCC): Results of a multivariate analysis.
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- International Journal of Cancer, 1994, v. 58, n. 6, p. 799, doi. 10.1002/ijc.2910580608
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- Publication type:
- Article
Phenotypic Expansion of Autosomal Dominant LZTR1 -Related Disorders with Special Emphasis on Adult-Onset Features.
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- 2024
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- Publication type:
- Case Study
Genetic Basis of Breast and Ovarian Cancer: Approaches and Lessons Learnt from Three Decades of Inherited Predisposition Testing.
- Published in:
- Genes, 2024, v. 15, n. 2, p. 219, doi. 10.3390/genes15020219
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- Publication type:
- Article
Success and Pitfalls of Genetic Testing in Undiagnosed Diseases: Whole Exome Sequencing and Beyond.
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- Genes, 2023, v. 14, n. 6, p. 1241, doi. 10.3390/genes14061241
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- Publication type:
- Article
Clinical and Genetic Findings in a Series of Eight Families with Arthrogryposis.
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- Genes, 2022, v. 13, n. 1, p. 29, doi. 10.3390/genes13010029
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- Publication type:
- Article
Incidence of non-age-dependent chromosomal abnormalities: a population-based study on 88965 amniocenteses.
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- European Journal of Human Genetics, 2009, v. 17, n. 7, p. 897, doi. 10.1038/ejhg.2008.265
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- Publication type:
- Article
Predictive diagnostic value for the clinical features accompanying intellectual disability in children with pathogenic copy number variations: a multivariate analysis.
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- Italian Journal of Pediatrics, 2014, v. 40, n. 1, p. 3, doi. 10.1186/1824-7288-40-39
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- Publication type:
- Article
Self-Amputation of the Extra Digit in a Fetus with Polydactyly: First Ultrasound Demonstration.
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- 2017
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- Publication type:
- journal article
Unravelling the Complexity of Inherited Retinal Dystrophies Molecular Testing: Added Value of Targeted Next-Generation Sequencing.
- Published in:
- BioMed Research International, 2016, v. 2016, p. 1, doi. 10.1155/2016/6341870
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- Publication type:
- Article
Surface Rendering of External Genitalia of a Fetus at the 32nd Week of Gestation Affected by Partial Androgen Insensitivity Syndrome.
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- Case Reports in Obstetrics & Gynecology, 2013, p. 1, doi. 10.1155/2013/325714
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- Publication type:
- Article
Second trimester amniocentesis is not a risk factor for very low birth weight and extremely low birth weight.
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- 2011
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- Publication type:
- journal article
Problems in the Identification of Hereditary Nonpolyposis Coloreetal Cancer in Two Families With Late Development of Full-Blown Clinical Spectrum.
- Published in:
- American Journal of Gastroenterology (Springer Nature), 2000, v. 95, n. 8, p. 2110, doi. 10.1016/S0002-9270(00)00955-2
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- Publication type:
- Article
Small Bowel Carcinoma in Hereditary Nonpolyposis Colorectal Cancer.
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- American Journal of Gastroenterology (Springer Nature), 1998, v. 93, n. 11, p. 2219, doi. 10.1111/j.1572-0241.1998.00618.x
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- Publication type:
- Article
Colorectal Carcinoma in Different Age Groups: A Population- Based Investigation.
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- American Journal of Gastroenterology (Springer Nature), 1997, v. 92, n. 9, p. 1505
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- Publication type:
- Article
Familial Beckwith-Wiedemann syndrome due to CDKN1C mutation manifesting with recurring omphalocele.
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- Prenatal Diagnosis, 2008, v. 28, n. 5, p. 447, doi. 10.1002/pd.1991
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- Publication type:
- Article
Age-specific risk of fetal loss post second trimester amniocentesis: analysis of 5043 cases.
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- Prenatal Diagnosis, 2007, v. 27, n. 2, p. 180, doi. 10.1002/pd.1647
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- Publication type:
- Article
Detection of a novel dystrophin gene mutation through carrier analysis performed during prenatal diagnosis in a case with intragenic recombination.
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- Prenatal Diagnosis, 2005, v. 25, n. 11, p. 1011, doi. 10.1002/pd.1238
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- Publication type:
- Article
First-trimester prenatal screening for the common 35delG GJB2 mutation causing prelingual deafness.
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- Prenatal Diagnosis, 2004, v. 24, n. 8, p. 631, doi. 10.1002/pd.954
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- Publication type:
- Article
MicroRNA Expression in Malignant Pleural Mesothelioma and Asbestosis: A Pilot Study.
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- Disease Markers, 2017, p. 1, doi. 10.1155/2017/9645940
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- Publication type:
- Article
Neurofibromatosis type I and multiple myeloma coexistence: A possible link?
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- Hematology Reports, 2018, v. 10, n. 1, p. 23, doi. 10.4081/hr.2018.7457
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- Publication type:
- Article
The DNA repair gene MBD4 (MED1) is mutated in human carcinomas with microsatellite instability.
- Published in:
- Nature Genetics, 1999, v. 23, n. 3, p. 266, doi. 10.1038/15443
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- Publication type:
- Article
Case Report: short stature, kidney anomalies, and cerebral aneurysms in a novel homozygous mutation in the PCNT gene associated with microcephalic osteodysplastic primordial dwarfism type II.
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- Frontiers in Endocrinology, 2023, p. 1, doi. 10.3389/fendo.2023.1018441
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- Publication type:
- Article
Mosaic derivative chromosomes at chorionic villi (CV) sampling are expression of genomic instability and precursors of cryptic disease-causing rearrangements: report of further four cases.
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- Molecular Cytogenetics (17558166), 2024, v. 17, n. 1, p. 1, doi. 10.1186/s13039-024-00675-3
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- Publication type:
- Article
Molecular Genetic Analysis of the PLP1 Gene in 38 Families with PLP1-related disorders: Identification and Functional Characterization of 11 Novel PLP1 Mutations.
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- Orphanet Journal of Rare Diseases, 2011, v. 6, n. 1, p. 40, doi. 10.1186/1750-1172-6-40
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- Publication type:
- Article
Monogenic Autoinflammatory Diseases with Mendelian inheritance: Genes, Mutations, and Genotype/Phenotype Correlations.
- Published in:
- Frontiers in Immunology, 2017, v. 8, p. 1, doi. 10.3389/fimmu.2017.00344
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- Publication type:
- Article
Impact of the rs1024611 Polymorphism of CCL2 on the Pathophysiology and Outcome of Primary Myelofibrosis.
- Published in:
- Cancers, 2021, v. 13, n. 11, p. 2552, doi. 10.3390/cancers13112552
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- Publication type:
- Article
Results and Clinical Interpretation of Germline RET Analysis in a Series of Patients with Medullary Thyroid Carcinoma: The Challenge of the Variants of Uncertain Significance.
- Published in:
- Cancers, 2020, v. 12, n. 11, p. 3268, doi. 10.3390/cancers12113268
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- Publication type:
- Article
Hypomelanosis of Ito with a trisomy 2 mosaicism: a case report.
- Published in:
- 2014
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- Publication type:
- journal article
Spectrum of X-linked intellectual disabilities and psychiatric symptoms in a family harbouring a Xp22.12 microduplication encompassing the RPS6KA3 gene.
- Published in:
- Journal of Genetics, 2019, v. 98, n. 1, p. N.PAG, doi. 10.1007/s12041-019-1055-8
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- Publication type:
- Article
Prenatal diagnosis and follow-up of a case of branchio-oto-renal syndrome displays renal growth impairment after the second trimester.
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- Journal of Obstetrics & Gynaecology Research, 2015, v. 41, n. 11, p. 1831, doi. 10.1111/jog.12791
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- Publication type:
- Article
Pure Parkinsonism as Possible Phenotype Expansion of THAP1‐Related Disorders.
- Published in:
- Movement Disorders, 2024, v. 39, n. 6, p. 1072, doi. 10.1002/mds.29745
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- Publication type:
- Article
Structural chromosomal abnormalities detected during CVS analysis and their role in the prenatal ascertainment of cryptic subtelomeric rearrangements.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 10, p. 2559, doi. 10.1002/ajmg.a.36035
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- Publication type:
- Article
Frequency and clinical features of multiple tumors of the large bowel in the general population and in patients with hereditary colorectal carcinoma.
- Published in:
- Cancer (0008543X), 1996, v. 77, n. 10, p. 2013, doi. 10.1002/(SICI)1097-0142(19960515)77:10<2013::AID-CNCR8>3.0.CO;2-R
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- Publication type:
- Article