Found: 31
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5q35 duplication presents with psychiatric and undergrowth phenotypes mediated by NSD1 overexpression and mTOR signaling downregulation.
- Published in:
- Human Genetics, 2021, v. 140, n. 4, p. 681, doi. 10.1007/s00439-020-02240-5
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- Article
Bilateral exophthalmos: Report of a case and review of a fibroblast growth factor receptor 2 mutation associated with non-penetrant Crouzon syndrome F Quintero-Rivera and JA Martinez-Agosto Bilateral exophthalmos and gene mutation.
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- Journal of Paediatrics & Child Health, 2010, v. 46, n. 11, p. 693, doi. 10.1111/j.1440-1754.2009.01692.x
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- Article
Central 22q11.2 deletion (LCR22 B‐D) in a fetus with severe fetal growth restriction and a mother with severe systemic lupus erythematosus: Further evidence of CRKL haploinsufficiency in the pathogenesis of 22q11.2 deletion syndrome.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 10, p. 3042, doi. 10.1002/ajmg.a.62346
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- Article
14q32.11 microdeletion including CALM1, TTC7B, PSMC1, and RPS6KA5: A new potential cause of developmental and language delay in three unrelated patients.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 5, p. 1519, doi. 10.1002/ajmg.a.62117
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- Article
Pathogenic paternally inherited NLGN4X deletion in a female with autism spectrum disorder: Clinical, cytogenetic, and molecular characterization.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 3, p. 894, doi. 10.1002/ajmg.a.62025
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- Article
Diversity, inclusion and equity in medical genetics: The time is now.
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 12, p. 2817, doi. 10.1002/ajmg.a.61899
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- Article
Identification of novel PIEZO1 variants using prenatal exome sequencing and correlation to ultrasound and autopsy findings of recurrent hydrops fetalis.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 12, p. 2829, doi. 10.1002/ajmg.a.40533
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- Article
Duodenal atresia in 17q12 microdeletion including HNF1B: A new associated malformation in this syndrome.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 12, p. 3076, doi. 10.1002/ajmg.a.36767
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- Article
Phenotypic variability in Waardenburg syndrome resulting from a 22q12.3-q13.1 microdeletion involving SOX10.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 6, p. 1512, doi. 10.1002/ajmg.a.36446
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- Article
Hemifacial microsomia in cat-eye syndrome: 22q11.1-q11.21 as candidate loci for facial symmetry.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 8, p. 1985, doi. 10.1002/ajmg.a.35895
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- Article
First report of a de novo 18q11.2 microdeletion including GATA6 associated with complex congenital heart disease and renal abnormalities.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 7, p. 1773, doi. 10.1002/ajmg.a.35974
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- Article
Familial Microdeletion of 17q24.3 Upstream of SOX 9 Is Associated With Isolated Pierre Robin Sequence Due to Position Effect.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 5, p. 1167, doi. 10.1002/ajmg.a.35847
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- Article
Pontocerebellar hypoplasia in association with de novo 19p13.11p13.12 microdeletion.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 11, p. 2871, doi. 10.1002/ajmg.a.34286
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- Article
Cleft Lip and Palate in a Patient with 5q35.2-q35.3 Microdeletion: The Importance of Chromosomal Microarray Testing in the Craniofacial Clinic.
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- 2013
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- Case Study
The Feasibility and Outcomes of Genetic Testing for Autism and Neurodevelopmental Disorders on an Inpatient Child and Adolescent Psychiatry Service.
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- Autism Research: Official Journal of the International Society for Autism Research, 2020, v. 13, n. 9, p. 1450, doi. 10.1002/aur.2338
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- Article
Outcomes of two different unbalanced segregations from a maternal t(4;10)(q33;p15.1) translocation.
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- BMC Medical Genomics, 2023, v. 16, n. 1, p. 1, doi. 10.1186/s12920-023-01491-1
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- Article
American College of Medical Genetics Standards and Guidelines for Interpretation and Reporting of Postnatal Constitutional Copy Number Variants.
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- Journal of International Reproductive Health/Family Planning, 2014, v. 33, n. 3, p. 217
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- Article
Exome Sequencing in the Clinical Diagnosis of Sporadic or Familial Cerebellar Ataxia.
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- JAMA Neurology, 2014, v. 71, n. 10, p. 1237, doi. 10.1001/jamaneurol.2014.1944
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- Article
MATR3 disruption in human and mouse associated with bicuspid aortic valve, aortic coarctation and patent ductus arteriosus.
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- Human Molecular Genetics, 2015, v. 24, n. 8, p. 2375, doi. 10.1093/hmg/ddv004
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- Article
B-Acute lymphoblastic leukemia and cystinuria in a patient with duplication 22q11.21 detected by chromosomal microarray analysis.
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- Pediatric Blood & Cancer, 2011, v. 56, n. 3, p. 470, doi. 10.1002/pbc.22909
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- Article
Triple Hit Lymphoma.
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- International Journal of Surgical Pathology, 2016, v. 24, n. 8, p. 709, doi. 10.1177/1066896916657409
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- Article
NFIA Haploinsufficiency Is Associated with a CNS Malformation Syndrome and Urinary Tract Defects.
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- PLoS Genetics, 2007, v. 3, n. 5, p. e80, doi. 10.1371/journal.pgen.0030080
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- Article
Characterization of the prenatal renal phenotype associated with 17q12, HNF1B, microdeletions.
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- Prenatal Diagnosis, 2024, v. 44, n. 2, p. 237, doi. 10.1002/pd.6424
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- Article
Apert syndrome: what prenatal radiographic findings should prompt its consideration?
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- Prenatal Diagnosis, 2006, v. 26, n. 10, p. 966, doi. 10.1002/pd.1539
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- Article
Recessive ciliopathy mutations in primary endocardial fibroelastosis: a rare neonatal cardiomyopathy in a case of Alstrom syndrome.
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- Journal of Molecular Medicine, 2021, v. 99, n. 11, p. 1623, doi. 10.1007/s00109-021-02112-z
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- Article
Gene-environment regulation of chamber-specific maturation during hypoxemic perinatal circulatory transition.
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- Journal of Molecular Medicine, 2020, v. 98, n. 7, p. 1009, doi. 10.1007/s00109-020-01933-8
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- Article
Gene-environment regulatory circuits of right ventricular pathology in tetralogy of fallot.
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- Journal of Molecular Medicine, 2019, v. 97, n. 12, p. 1711, doi. 10.1007/s00109-019-01857-y
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- Article
Increased AID results in mutations at the CRLF2 locus implicated in Latin American ALL health disparities.
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- Nature Communications, 2024, v. 15, n. 1, p. 1, doi. 10.1038/s41467-024-50537-0
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- Article
Novel Variants in the VCP Gene Causing Multisystem Proteinopathy 1.
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- Genes, 2023, v. 14, n. 3, p. 676, doi. 10.3390/genes14030676
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- Article
Clinical Exome Sequencing for Genetic Identification of Rare Mendelian Disorders.
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- JAMA: Journal of the American Medical Association, 2014, v. 312, n. 18, p. 1880, doi. 10.1001/jama.2014.14604
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- Article
De Novo variants in the KMT2A (MLL) gene causing atypical Wiedemann-Steiner syndrome in two unrelated individuals identified by clinical exome sequencing.
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- BMC Medical Genetics, 2014, v. 15, n. 1, p. 1, doi. 10.1186/1471-2350-15-49
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- Article