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Mutations of RUNX1 in families with inherited thrombocytopenia.
- Published in:
- American Journal of Hematology, 2017, v. 92, n. 6, p. E86, doi. 10.1002/ajh.24703
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- Article
Exploring by whole exome sequencing patients with initial diagnosis of Rubinstein-Taybi syndrome: the interconnections of epigenetic machinery disorders.
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- Human Genetics, 2019, v. 138, n. 3, p. 257, doi. 10.1007/s00439-019-01985-y
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- Article
A novel autosomal dominant non-syndromic deafness locus (DFNA48) maps to 12q13-q14 in a large Italian family.
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- Human Genetics, 2003, v. 112, n. 3, p. 319, doi. 10.1007/s00439-002-0880-6
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- Article
Gene dosage of the spermidine/spermine N<sup>1</sup>-acetyltransferase (SSAT) gene with putrescine accumulation in a patient with a Xp21.1p22.12 duplication and keratosis follicularis spinulosa decalvans (KFSD).
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- Human Genetics, 2002, v. 111, n. 3, p. 235, doi. 10.1007/s00439-002-0791-6
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- Article
Epstein syndrome: another renal disorder with mutations in the nonmuscle myosin heavy chain 9 gene.
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- Human Genetics, 2002, v. 110, n. 2, p. 182, doi. 10.1007/s00439-001-0659-1
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- Article
Hereditary Spastic Paraplegia Is a Common Phenotypic Finding in ARG1 Deficiency, P5CS Deficiency and HHH Syndrome: Three Inborn Errors of Metabolism Caused by Alteration of an Interconnected Pathway of Glutamate and Urea Cycle Metabolism.
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- Frontiers in Neurology, 2019, p. 1, doi. 10.3389/fneur.2019.00131
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- Article
miRNA–221 and miRNA–483–3p Dysregulation in Esophageal Adenocarcinoma.
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- Cancers, 2024, v. 16, n. 3, p. 591, doi. 10.3390/cancers16030591
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- Article
Genetics in Familial Intrahepatic Cholestasis: Clinical Patterns and Development of Liver and Biliary Cancers: A Review of the Literature.
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- Cancers, 2022, v. 14, n. 14, p. N.PAG, doi. 10.3390/cancers14143421
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- Article
A rare G6490 → substitution at the last nucleotide of exon 10 of the glucocerebrosidase gene in two unrelated Italian Gaucher patients.
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- Clinical Genetics, 1995, v. 48, n. 3, p. 123, doi. 10.1111/j.1399-0004.1995.tb04070.x
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- Article
Partial trisomy 21 with or without highly restricted Down syndrome critical region (HR-DSCR): report of two new cases and reanalysis of the genotype–phenotype association.
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- BMC Medical Genomics, 2022, v. 15, n. 1, p. 1, doi. 10.1186/s12920-022-01422-6
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- Article
Search for genetic factors in bicuspid aortic valve disease: ACTA2 mutations do not play a major role.
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- Interactive Cardiovascular & Thoracic Surgery, 2017, v. 25, n. 5, p. 813, doi. 10.1093/icvts/ivx242
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- Article
Ultra-Rare Variants Identify Biological Pathways and Candidate Genes in the Pathobiology of Non-Syndromic Cleft Palate Only.
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- Biomolecules (2218-273X), 2023, v. 13, n. 2, p. 236, doi. 10.3390/biom13020236
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- Article
Cryptogenic cholestasis in young and adults: ATP8B1, ABCB11, ABCB4, and TJP2 gene variants analysis by high-throughput sequencing.
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- 2018
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- Publication type:
- journal article
PHOX2B mutations and genetic predisposition to neuroblastoma.
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- Oncogene, 2005, v. 24, n. 18, p. 3050, doi. 10.1038/sj.onc.1208532
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- Article
Weak linkage at 4p16 to predisposition for human neuroblastoma.
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- Oncogene, 2002, v. 21, n. 54, p. 8356, doi. 10.1038/sj.onc.1206009
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- Article
A heritable cause of cleft lip and palate--Van der Woude syndrome caused by a novel IRF6 mutation. Review of the literature and of the differential diagnosis.
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- 2010
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- Publication type:
- journal article
Whole‐exome sequencing in adult patients with developmental and epileptic encephalopathy: It is never too late.
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- Clinical Genetics, 2020, v. 98, n. 5, p. 477, doi. 10.1111/cge.13823
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- Article
A Cys634Gly substitution of the RET proto-oncogene in a family with recurrence of multiple endocrine neoplasia type 2A and cutaneous lichen amyloidosis.
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- Clinical Genetics, 1997, v. 51, n. 2, p. 86, doi. 10.1111/j.1399-0004.1997.tb02425.x
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- Article
An increased burden of rare exonic variants in NRXN1 microdeletion carriers is likely to enhance the penetrance for autism spectrum disorder.
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- Journal of Cellular & Molecular Medicine, 2021, v. 25, n. 5, p. 2459, doi. 10.1111/jcmm.16161
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- Article
A novel p63 mutation in a fetus with ultrasound detection of split hand/foot malformation.
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- Prenatal Diagnosis, 2012, v. 32, n. 3, p. 296, doi. 10.1002/pd.2932
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- Article
Psychological consequences of prenatal diagnosis in a case of familial Angelman syndrome.
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- 2006
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- Publication type:
- journal article
Psychological consequences of prenatal diagnosis in a case of familial Angelman Syndrome.
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- Prenatal Diagnosis, 2006, v. 26, n. 12, p. 1156, doi. 10.1002/pd.1577
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- Article
Glomerulocystic kidney disease in a family.
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- Nephrology Dialysis Transplantation, 2002, v. 17, n. 5, p. 813, doi. 10.1093/ndt/17.5.813
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- Article
Prevalence of unruptured intracranial aneurysms in patients with Marfan syndrome: A cross-sectional study and meta-analysis.
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- European Stroke Journal, 2023, v. 8, n. 2, p. 501, doi. 10.1177/23969873221149848
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- Article
P5CS expression study in a new family with ALDH18A1‐associated hereditary spastic paraplegia SPG9.
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- Annals of Clinical & Translational Neurology, 2019, v. 6, n. 8, p. 1533, doi. 10.1002/acn3.50821
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- Article
Contribution of ultrarare variants in mTOR pathway genes to sporadic focal epilepsies.
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- Annals of Clinical & Translational Neurology, 2019, v. 6, n. 3, p. 475, doi. 10.1002/acn3.722
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- Article
Characterization of the response to myelin basic protein in a non human primate model for multiple sclerosis.
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- European Journal of Immunology, 2001, v. 31, n. 2, p. 474, doi. 10.1002/1521-4141(200102)31:2<474::AID-IMMU474>3.0.CO;2-9
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- Publication type:
- Article
Homozygous NOTCH3 null mutation and impaired NOTCH3 signaling in recessive early-onset arteriopathy and cavitating leukoencephalopathy.
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- EMBO Molecular Medicine, 2015, v. 7, n. 6, p. 848, doi. 10.15252/emmm.201404399
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- Article
Maternally inherited genetic variants of CADPS2 are present in Autism Spectrum Disorders and Intellectual Disability patients.
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- EMBO Molecular Medicine, 2014, v. 6, n. 12, p. 1639, doi. 10.15252/emmm.201404829
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- Article
Maternally inherited genetic variants of CADPS2 are present in Autism Spectrum Disorders and Intellectual Disability patients.
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- EMBO Molecular Medicine, 2014, v. 6, n. 6, p. 795, doi. 10.1002/emmm.201303235
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- Article
EXCAVATOR: detecting copy number variants from whole-exome sequencing data.
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- Genome Biology, 2013, v. 14, n. 10, p. 3, doi. 10.1186/gb-2013-14-10-r120
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- Article
MYH9 related disease: four novel mutations of the tail domain of myosin-9 correlating with a mild clinical phenotype.
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- European Journal of Haematology, 2010, v. 84, n. 4, p. 291, doi. 10.1111/j.1600-0609.2009.01398.x
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- Article
Where Birt-Hogg-Dubé meets Cowden Syndrome: mirrored genetic defects in two cases of syndromic oncocytic tumours.
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- European Journal of Human Genetics, 2013, v. 21, n. 10, p. 1169, doi. 10.1038/ejhg.2013.8
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- Article
A novel missense mutation in ANO5/TMEM16E is causative for gnathodiaphyseal dyplasia in a large Italian pedigree.
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- European Journal of Human Genetics, 2013, v. 21, n. 6, p. 613, doi. 10.1038/ejhg.2012.224
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- Article
A novel locus for syndromic chronic idiopathic intestinal pseudo-obstruction maps to chromosome 8q23–q24.
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- European Journal of Human Genetics, 2007, v. 15, n. 8, p. 889, doi. 10.1038/sj.ejhg.5201844
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- Article
Interaction of the LMX1B and PAX2 gene products suggests possible molecular basis of differential phenotypes in Nail-Patella syndrome.
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- European Journal of Human Genetics, 2005, v. 13, n. 6, p. 789, doi. 10.1038/sj.ejhg.5201405
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- Article
MVK mutations and associated clinical features in Italian patients affected with autoinflammatory disorders and recurrent fever.
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- European Journal of Human Genetics, 2005, v. 13, n. 3, p. 314, doi. 10.1038/sj.ejhg.5201323
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- Article
A refined physical and transcriptional map of the SPG9 locus on 10q23.3–q24.2.
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- European Journal of Human Genetics, 2000, v. 8, n. 10, p. 777, doi. 10.1038/sj.ejhg.5200546
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- Article
Exclusion of the SCN2B gene as candidate for CMT4B.
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- European Journal of Human Genetics, 1998, v. 6, n. 6, p. 629, doi. 10.1038/sj.ejhg.5200220
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- Article
A new candidate region for the positional cloning of the XLP gene.
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- European Journal of Human Genetics, 1998, v. 6, n. 5, p. 509, doi. 10.1038/sj.ejhg.5200249
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- Article
Linkage analysis in two large Italian pedigrees affected with nail patella syndrome.
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- European Journal of Human Genetics, 1998, v. 6, n. 4, p. 345, doi. 10.1038/sj.ejhg.5200191
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- Publication type:
- Article
GENETIC DISORDERS - DEVELOPMENT Autosomal-dominant Alport syndrome: Natural history of a disease due to COL4A3 or COL4A4 gene.
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- Kidney International, 2004, v. 65, n. 5, p. 1598, doi. 10.1111/j.1523-1755.2004.00560.x
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- Publication type:
- Article
unCOVERApp: an interactive graphical application for clinical assessment of sequence coverage at the base-pair level.
- Published in:
- Bioinformatics, 2021, v. 37, n. 5, p. 723, doi. 10.1093/bioinformatics/btaa730
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- Article
Partial trisomy 21 map: Ten cases further supporting the highly restricted Down syndrome critical region (HR‐DSCR) on human chromosome 21.
- Published in:
- Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 8, p. N.PAG, doi. 10.1002/mgg3.797
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- Article
Immune cytopenias as a continuum in inborn errors of immunity: An in‐depth clinical and immunological exploration.
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- Immunity, Inflammation & Disease, 2021, v. 9, n. 2, p. 583, doi. 10.1002/iid3.420
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- Article
PS02.055: IN ESOPHAGEAL ADENOCARCINOMA (EAC) BARRET LIKE AND CARDIO PYLORIC LIKE SUB TYPES ARE DIFFERENTIATED ACCORDING TO MICRORNA (MIRNA) 221 AND 483–3.P EXPRESSION PROFILES.
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- Diseases of the Esophagus, 2018, v. 31, n. 13, p. 136, doi. 10.1093/dote/doy089.PS02.055
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- Article
PS02.046: UNRAVELING TUMOR HETEROGENEITY OF ESOPHAGEAL ADENOCARCINOMA (EAC) THROUGH HIGH-THROUGHPUT OF SORTED TUMOR CELL POPULATIONS.
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- Diseases of the Esophagus, 2018, v. 31, n. 13, p. 133, doi. 10.1093/dote/doy089.PS02.046
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- Article
Phenotypic Description of A Patient with ODLURO Syndrome and Functional Characterization of the Pathogenetic Role of A Synonymous Variant c.186G>A in KMT2E Gene.
- Published in:
- Genes, 2024, v. 15, n. 4, p. 430, doi. 10.3390/genes15040430
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- Publication type:
- Article
Lights and Shadows in the Genetics of Syndromic and Non-Syndromic Hearing Loss in the Italian Population.
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- Genes, 2020, v. 11, n. 11, p. 1237, doi. 10.3390/genes11111237
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- Article
Adult-onset Alexander disease.
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- Journal of Neurology, 2008, v. 255, n. 1, p. 24, doi. 10.1007/s00415-007-0654-0
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- Article