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Characterization of a complex chromosome aberration in two cases of peritoneal mesothelioma arising primarily in the hernial sac.
- Published in:
- Pathology International, 2009, v. 59, n. 6, p. 415, doi. 10.1111/j.1440-1827.2009.02387.x
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- Publication type:
- Article
Low presence of p53 abnormalities in H. pylori-infected gastric mucosa and in gastric adenocarcinoma.
- Published in:
- Journal of Gastroenterology, 2003, v. 38, n. 1, p. 28, doi. 10.1007/s005350300003
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- Publication type:
- Article
Autism spectrum disorders in XYY syndrome: two new cases and systematic review of the literature.
- Published in:
- European Journal of Pediatrics, 2014, v. 173, n. 3, p. 277, doi. 10.1007/s00431-014-2267-9
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- Publication type:
- Article
Combinatorial effects on gene expression at the Lbx1/Fgf8 locus resolve split-hand/foot malformation type 3.
- Published in:
- Nature Communications, 2023, v. 14, p. 1, doi. 10.1038/s41467-023-37057-z
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- Publication type:
- Article
Genetic Associations of Alexithymia in Predicting Interferon-Induced Depression in Chronic Hepatitis C.
- Published in:
- Psychopathology, 2015, v. 48, n. 6, p. 417, doi. 10.1159/000441682
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- Publication type:
- Article
Increased Wnt and Notch signaling: a clue to the renal disease in Schimke immunoosseous dysplasia?
- Published in:
- Orphanet Journal of Rare Diseases, 2016, v. 11, p. 1, doi. 10.1186/s13023-016-0519-7
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- Publication type:
- Article
Increased Wnt and Notch signaling: a clue to the renal disease in Schimke immuno-osseous dysplasia?
- Published in:
- 2016
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- Publication type:
- journal article
Peritoneal Mesothelioma with Residential Asbestos Exposure. Report of a Case with Long Survival (Seventeen Years) Analyzed by Cgh-Array.
- Published in:
- International Journal of Molecular Sciences, 2017, v. 18, n. 8, p. 1818, doi. 10.3390/ijms18081818
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- Publication type:
- Article
14q12q13.2 microdeletion syndrome: Clinical characterization of a new patient, review of the literature, and further evidence of a candidate region for CNS anomalies.
- Published in:
- Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 7, p. 1, doi. 10.1002/mgg3.1289
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- Publication type:
- Article
First prenatal case of Noonan syndrome with SOS2 mutation: Implications of early diagnosis for genetic counseling.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 6, p. 1897, doi. 10.1002/ajmg.a.62180
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- Publication type:
- Article
14q13 distal microdeletion encompassing NKX2-1 and PAX9: Patient report and refinement of the associated phenotype.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 7, p. 1884, doi. 10.1002/ajmg.a.37691
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- Publication type:
- Article
Partial Trisomy 18q and Epileptic Spasms Induced by Eating Associated With Bilateral Opercular Dysplasia.
- Published in:
- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 5, p. 1194, doi. 10.1002/ajmg.a.35859
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- Publication type:
- Article
Molecular cytogenetic characterization and genotype/phenotype analysis in a patient with a de novo 8p23.2p23.3 deletion/12p13.31p13.33 duplication.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 7, p. 1713, doi. 10.1002/ajmg.a.35400
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- Publication type:
- Article
Prenatal diagnosis of ductus venosus agenesis and its association with cytogenetic/congenital anomalies.
- Published in:
- Prenatal Diagnosis, 2002, v. 22, n. 11, p. 995, doi. 10.1002/pd.456
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- Publication type:
- Article
Combinatorial effects on gene expression at the Lbx1/Fgf8 locus resolve split-hand/foot malformation type 3.
- Published in:
- Nature Communications, 2023, v. 14, n. 1, p. 1, doi. 10.1038/s41467-023-37057-z
- By:
- Publication type:
- Article
Publisher Correction: Combinatorial effects on gene expression at the Lbx1/Fgf8 locus resolve split-hand/foot malformation type 3.
- Published in:
- 2023
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- Publication type:
- Correction Notice
Combinatorial effects on gene expression at the Lbx1/Fgf8 locus resolve split-hand/foot malformation type 3.
- Published in:
- Nature Communications, 2023, v. 14, n. 1, p. 1, doi. 10.1038/s41467-023-37057-z
- By:
- Publication type:
- Article
Risk of Fetal Loss in Pregnancies Undergoing Midtrimester Amniocentesis after Inconclusive Chorionic Villus Sampling.
- Published in:
- Fetal Diagnosis & Therapy, 2019, v. 46, n. 3, p. 149, doi. 10.1159/000493206
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- Publication type:
- Article
Risk of Fetal Loss in Pregnancies Undergoing Midtrimester Amniocentesis after Inconclusive Chorionic Villus Sampling.
- Published in:
- 2019
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- Publication type:
- journal article
Copy number variants and infantile spasms: evidence for abnormalities in ventral forebrain development and pathways of synaptic function.
- Published in:
- European Journal of Human Genetics, 2011, v. 19, n. 12, p. 1238, doi. 10.1038/ejhg.2011.121
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- Publication type:
- Article
Rfx6 directs islet formation and insulin production in mice and humans.
- Published in:
- Nature, 2010, v. 463, n. 7282, p. 775, doi. 10.1038/nature08748
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- Publication type:
- Article
'Compressed Baby Head': A New 'Abusive Head Trauma' Entity?
- Published in:
- Children, 2023, v. 10, n. 6, p. 1003, doi. 10.3390/children10061003
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- Publication type:
- Article
Early spinal muscular atrophy treatment following newborn screening: A 20‐month review of the first Italian regional experience.
- Published in:
- Annals of Clinical & Translational Neurology, 2024, v. 11, n. 5, p. 1090, doi. 10.1002/acn3.52018
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- Publication type:
- Article
High Wilms' tumour gene (WT1) expression and low mitotic count are independent predictors of survival in diffuse peritoneal mesothelioma.
- Published in:
- Histopathology, 2012, v. 60, n. 3, p. 472, doi. 10.1111/j.1365-2559.2011.04108.x
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- Publication type:
- Article
Prevalence of the Y165C, G382D and 1395delGGA germline mutations of the MYH gene in Italian patients with adenomatous polyposis coli and colorectal adenomas.
- Published in:
- International Journal of Cancer, 2004, v. 109, n. 5, p. 680, doi. 10.1002/ijc.20054
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- Publication type:
- Article
Functional evidence of mTORβ splice variant involvement in the pathogenesis of congenital heart defects.
- Published in:
- Clinical Genetics, 2021, v. 99, n. 3, p. 425, doi. 10.1111/cge.13890
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- Publication type:
- Article
Novel exostosin‐2 missense variants in a family with autosomal recessive exostosin‐2‐related syndrome: further evidences on the phenotype.
- Published in:
- Clinical Genetics, 2019, v. 95, n. 1, p. 165, doi. 10.1111/cge.13458
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- Publication type:
- Article
Microphthalmia with Linear Skin Defects (MLS) associated with Autism Spectrum Disorder (ASD) in a patient with Familial 12.9Mb Terminal Xp deletion.
- Published in:
- BMC Pediatrics, 2014, v. 14, n. 1, p. 1, doi. 10.1186/1471-2431-14-220
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- Publication type:
- Article
Chromosomal rearrangements in Xq and premature ovarian failure: mapping of 25 new cases and review of the literature.
- Published in:
- Human Reproduction, 2006, v. 21, n. 6, p. 1477, doi. 10.1093/humrep/dei495
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- Publication type:
- Article
Clinical characterization of a novel RAB39B nonstop mutation in a family with ASD and severe ID causing RAB39B downregulation and study of a Rab39b knock down mouse model.
- Published in:
- Human Molecular Genetics, 2022, v. 31, n. 9, p. 1389, doi. 10.1093/hmg/ddab320
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- Publication type:
- Article
RFC1 repeat expansions: A recurrent cause of sensory and autonomic neuropathy with cough and ataxia.
- Published in:
- European Journal of Neurology, 2022, v. 29, n. 7, p. 2156, doi. 10.1111/ene.15310
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- Publication type:
- Article
TNFRSF13B gene mutation in familial acute myeloid leukemia: A new piece in the complex scenario of hereditary predisposition?
- Published in:
- Hematological Oncology, 2023, v. 41, n. 5, p. 942, doi. 10.1002/hon.3212
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- Publication type:
- Article
Identification and Characterization of a Novel Splice Site Mutation Associated with Glycogen Storage Disease Type VI in Two Unrelated Turkish Families.
- Published in:
- Diagnostics (2075-4418), 2021, v. 11, n. 3, p. 500, doi. 10.3390/diagnostics11030500
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- Publication type:
- Article
Bilateral Phyllodes Giant Tumor. A Case Report Analyzed by Array-CGH.
- Published in:
- Diagnostics (2075-4418), 2020, v. 10, n. 10, p. 825, doi. 10.3390/diagnostics10100825
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- Publication type:
- Article
Combining Point-of-Care Diagnostics and Internet of Medical Things (IoMT) to Combat the COVID-19 Pandemic.
- Published in:
- 2020
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- Publication type:
- Editorial
Incidence of chromosomal abnormalities in fetuses with first trimester ultrasound anomalies and a low‐risk cell‐free DNA test for common trisomies.
- Published in:
- Prenatal Diagnosis, 2020, v. 40, n. 11, p. 1474, doi. 10.1002/pd.5799
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- Publication type:
- Article
22q11 deletions in fetuses with malformations of the outflow tracts or interruption of the aortic arch: impact of additional ultrasound signs.
- Published in:
- Prenatal Diagnosis, 2003, v. 23, n. 9, p. 752, doi. 10.1002/pd.682
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- Publication type:
- Article
Microdeletion/duplication at the Xq28 IP locus causes a de novo IKBKG/NEMO/IKKgamma exon4_10 deletion in families with incontinentia pigmenti.
- Published in:
- Human Mutation, 2009, v. 30, n. 9, p. 1284, doi. 10.1002/humu.21069
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- Publication type:
- Article
MKS3/TMEM67 mutations are a major cause of COACH Syndrome, a Joubert Syndrome related disorder with liver involvement.
- Published in:
- Human Mutation, 2009, v. 30, n. 2, p. E432, doi. 10.1002/humu.20924
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- Publication type:
- Article
Cardiac Phenotype and Gene Mutations in RASopathies.
- Published in:
- Genes, 2024, v. 15, n. 8, p. 1015, doi. 10.3390/genes15081015
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- Publication type:
- Article
A Rare Case of Concurrent 2q34q36 Duplication and 2q37 Deletion in a Neonate with Syndromic Features.
- Published in:
- Genes, 2023, v. 14, n. 12, p. 2194, doi. 10.3390/genes14122194
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- Publication type:
- Article
12q21 Interstitial Deletions: Seven New Syndromic Cases Detected by Array-CGH and Review of the Literature.
- Published in:
- Genes, 2022, v. 13, n. 5, p. 780, doi. 10.3390/genes13050780
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- Publication type:
- Article
Cytogenetic and Array-CGH Characterization of a Simple Case of Reciprocal t(3;10) Translocation Reveals a Hidden Deletion at 5q12.
- Published in:
- Genes, 2021, v. 13, n. 6, p. 877, doi. 10.3390/genes12060877
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- Publication type:
- Article
Genetic Pattern, Orthodontic and Surgical Management of Multiple Supplementary Impacted Teeth in a Rare, Cleidocranial Dysplasia Patient: A Case Report.
- Published in:
- Medicina (1010660X), 2021, v. 57, n. 12, p. 1350, doi. 10.3390/medicina57121350
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- Publication type:
- Article
Whole-Exome and Transcriptome Sequencing Expands the Genotype of Majewski Osteodysplastic Primordial Dwarfism Type II.
- Published in:
- International Journal of Molecular Sciences, 2023, v. 24, n. 15, p. 12291, doi. 10.3390/ijms241512291
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- Publication type:
- Article
Clinical phenotype of the 16p.13.11 microdeletion: a case report with a mini review of the literature.
- Published in:
- Frontiers in Genetics, 2024, p. 01, doi. 10.3389/fgene.2024.1429185
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- Publication type:
- Article
Four novel mutations of the APC (adenomatous polyposis coli) gene in FAP patients.
- Published in:
- Human Molecular Genetics, 1994, v. 3, n. 9, p. 1687
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- Publication type:
- Article