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Surgical insights and management in patients with the 22q11.2 deletion syndrome.
- Published in:
- Pediatric Surgery International, 2022, v. 38, n. 6, p. 899, doi. 10.1007/s00383-022-05123-0
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- Publication type:
- Article
Absence of PTPN11 mutations in 28 cases of cardiofaciocutaneous (CFC) syndrome.
- Published in:
- Human Genetics, 2002, v. 111, n. 4/5, p. 421, doi. 10.1007/s00439-002-0803-6
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- Publication type:
- Article
The Role of mGluR Copy Number Variation in Genetic and Environmental Forms of Syndromic Autism Spectrum Disorder.
- Published in:
- Scientific Reports, 2016, p. 19372, doi. 10.1038/srep19372
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- Publication type:
- Article
De novo variants in CACNA1E found in patients with intellectual disability, developmental regression and social cognition deficit but no seizures.
- Published in:
- Molecular Autism, 2021, v. 12, n. 1, p. 1, doi. 10.1186/s13229-021-00473-3
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- Publication type:
- Article
Critical region within 22q11.2 linked to higher rate of autism spectrum disorder.
- Published in:
- Molecular Autism, 2017, v. 8, p. 1, doi. 10.1186/s13229-017-0171-7
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- Publication type:
- Article
A vascular endothelial growth factor A genetic variant is associated with improved ventricular function and transplant-free survival after surgery for non-syndromic CHD.
- Published in:
- 2018
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- Publication type:
- journal article
Aortic Root Dilation in Patients with 22q11.2 Deletion Syndrome Without Intracardiac Anomalies.
- Published in:
- Pediatric Cardiology, 2021, v. 42, n. 7, p. 1594, doi. 10.1007/s00246-021-02645-7
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- Publication type:
- Article
Progesterone for Neurodevelopment in Fetuses With Congenital Heart Defects: A Randomized Clinical Trial.
- Published in:
- JAMA Network Open, 2024, v. 7, n. 5, p. e2412291, doi. 10.1001/jamanetworkopen.2024.12291
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- Publication type:
- Article
Association of Mitochondrial Biogenesis With Variable Penetrance of Schizophrenia.
- Published in:
- 2021
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- Publication type:
- journal article
Mechanisms of mosaicism, chimerism and uniparental disomy identified by single nucleotide polymorphism array analysis.
- Published in:
- Human Molecular Genetics, 2010, v. 19, n. 7, p. 1263, doi. 10.1093/hmg/ddq003
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- Publication type:
- Article
Aberrant interchromosomal exchanges are the predominant cause of the 22q11.2 deletion.
- Published in:
- Human Molecular Genetics, 2004, v. 13, n. 4, p. 417, doi. 10.1093/hmg/ddh041
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- Publication type:
- Article
Disrupted auto-regulation of the spliceosomal gene SNRPB causes cerebro-costo-mandibular syndrome.
- Published in:
- Nature Communications, 2014, v. 5, n. 7, p. 4483, doi. 10.1038/ncomms5483
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- Publication type:
- Article
A Novel Approach to Dysmorphology to Enhance the Phenotypic Classification of Autism Spectrum Disorder in the Study to Explore Early Development.
- Published in:
- Journal of Autism & Developmental Disorders, 2019, v. 49, n. 5, p. 2184, doi. 10.1007/s10803-019-03899-0
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- Publication type:
- Article
Autism Spectrum Disorders and Symptoms in Children with Molecularly Confirmed 22q11.2 Deletion Syndrome.
- Published in:
- Journal of Autism & Developmental Disorders, 2005, v. 35, n. 4, p. 461, doi. 10.1007/s10803-005-5036-9
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- Publication type:
- Article
Mapping the Relationship between Dysmorphology and Cognitive, Behavioral, and Developmental Outcomes in Children with Autism Spectrum Disorder.
- Published in:
- Autism Research: Official Journal of the International Society for Autism Research, 2020, v. 13, n. 7, p. 1227, doi. 10.1002/aur.2314
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- Publication type:
- Article
Enlarged cavum septum pellucidum and small thymus as markers for 22q11.2 deletion syndrome.
- Published in:
- Prenatal Diagnosis, 2024, v. 44, n. 6/7, p. 796, doi. 10.1002/pd.6555
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- Publication type:
- Article
Characterization of the prenatal renal phenotype associated with 17q12, HNF1B, microdeletions.
- Published in:
- Prenatal Diagnosis, 2024, v. 44, n. 2, p. 237, doi. 10.1002/pd.6424
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- Publication type:
- Article
Expanding the differential diagnosis of fetal hydrops: an unusual prenatal presentation of megalencephaly-capillary malformation syndrome.
- Published in:
- Prenatal Diagnosis, 2013, v. 33, n. 10, p. 1010, doi. 10.1002/pd.4178
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- Publication type:
- Article
Copy number variations in individuals with conotruncal heart defects reveal some shared developmental pathways irrespective of 22q11.2 deletion status.
- Published in:
- Birth Defects Research, 2019, v. 111, n. 13, p. 888, doi. 10.1002/bdr2.1534
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- Publication type:
- Article
Association between osteosarcoma and deleterious mutations in the RECQL4 gene in Rothmund-Thomson syndrome.
- Published in:
- 2003
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- Publication type:
- journal article
Relationship between intelligence quotient measures and computerized neurocognitive performance in 22q11.2 deletion syndrome.
- Published in:
- Brain & Behavior, 2021, v. 11, n. 8, p. 1, doi. 10.1002/brb3.2221
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- Publication type:
- Article
Cytotoxic T-Lymphocyte-Associated Protein 4 Haploinsufficiency-Associated Inflammation Can Occur Independently of T-Cell Hyperproliferation.
- Published in:
- Frontiers in Immunology, 2018, p. N.PAG, doi. 10.3389/fimmu.2018.01715
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- Publication type:
- Article
Coexisting Conditions Modifying Phenotypes of Patients with 22q11.2 Deletion Syndrome.
- Published in:
- Genes, 2023, v. 14, n. 3, p. 680, doi. 10.3390/genes14030680
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- Publication type:
- Article
Improved Outcomes in Patients with 22q11.2 Deletion Syndrome and Diagnosis of Interrupted Aortic Arch Prior to Birth Hospital Discharge, a Retrospective Study.
- Published in:
- Genes, 2023, v. 14, n. 1, p. 62, doi. 10.3390/genes14010062
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- Publication type:
- Article
Influence of Parent-of-Origin on Intellectual Outcomes in the Chromosome 22q11.2 Deletion Syndrome.
- Published in:
- Genes, 2022, v. 13, n. 10, p. N.PAG, doi. 10.3390/genes13101800
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- Publication type:
- Article
A Novel Non-Allelic Homologous Recombination Event in a Parent with an 11;22 Reciprocal Translocation Leading to 22q11.2 Deletion Syndrome.
- Published in:
- 2022
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- Publication type:
- Case Study
Paternal origin of the de novo constitutional t(11;22)(q23;q11).
- Published in:
- European Journal of Human Genetics, 2010, v. 18, n. 7, p. 783, doi. 10.1038/ejhg.2010.20
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- Publication type:
- Article
Rearrangement in the PITX2 and MIPOL1 genes in a patient with a t(4;14) chromosome.
- Published in:
- European Journal of Human Genetics, 2003, v. 11, n. 4, p. 315, doi. 10.1038/sj.ejhg.5200963
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- Publication type:
- Article
Germline gain-of-function mutations in AFF4 cause a developmental syndrome functionally linking the super elongation complex and cohesin.
- Published in:
- Nature Genetics, 2015, v. 47, n. 4, p. 338, doi. 10.1038/ng.3229
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- Publication type:
- Article
Microduplications of 16p11.2 are associated with schizophrenia.
- Published in:
- Nature Genetics, 2009, v. 41, n. 11, p. 1223, doi. 10.1038/ng.474
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- Publication type:
- Article
Discovery of a previously unrecognized microdeletion syndrome of 16p11.2–p12.2.
- Published in:
- Nature Genetics, 2007, v. 39, n. 9, p. 1071, doi. 10.1038/ng2107
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- Publication type:
- Article
Crouzon with Acanthosis Nigricans and Odontogenic Tumors.
- Published in:
- Cleft Palate Craniofacial Journal, 2018, v. 55, n. 2, p. 296, doi. 10.1177/1055665617723918
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- Publication type:
- Article
Early language measures associated with later psychosis features in 22q11.2 deletion syndrome.
- Published in:
- American Journal of Medical Genetics. Part B: Neuropsychiatric Genetics, 2020, v. 183, n. 6, p. 392, doi. 10.1002/ajmg.b.32812
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- Publication type:
- Article
Musical auditory processing, cognition, and psychopathology in 22q11.2 deletion syndrome.
- Published in:
- American Journal of Medical Genetics. Part B: Neuropsychiatric Genetics, 2018, v. 177, n. 8, p. 765, doi. 10.1002/ajmg.b.32690
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- Publication type:
- Article
IQ and hemizygosity for the Val<sup>158</sup>Met functional polymorphism of COMT in 22q11DS.
- Published in:
- American Journal of Medical Genetics. Part B: Neuropsychiatric Genetics, 2016, v. 171B, n. 8, p. 1112, doi. 10.1002/ajmg.b.32492
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- Publication type:
- Article
Contribution of congenital heart disease to neuropsychiatric outcome in school-age children with 22q11.2 deletion syndrome.
- Published in:
- American Journal of Medical Genetics. Part B: Neuropsychiatric Genetics, 2014, v. 165B, n. 2, p. 137, doi. 10.1002/ajmg.b.32215
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- Publication type:
- Article
Platelet findings in 22q11.2 deletion syndrome correlate with disease manifestations but do not correlate with GPIb surface expression.
- Published in:
- Clinical Genetics, 2023, v. 103, n. 1, p. 109, doi. 10.1111/cge.14227
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- Publication type:
- Article
Novel variants in CDH2 are associated with a new syndrome including Peters anomaly.
- Published in:
- Clinical Genetics, 2020, v. 97, n. 3, p. 502, doi. 10.1111/cge.13660
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- Publication type:
- Article
Chromatin Modifications in 22q11.2 Deletion Syndrome.
- Published in:
- Journal of Clinical Immunology, 2021, v. 41, n. 8, p. 1853, doi. 10.1007/s10875-021-01123-2
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- Publication type:
- Article
Early ultrasound diagnosis of Neu-Laxova syndrome.
- Published in:
- Prenatal Diagnosis, 2001, v. 21, n. 7, p. 575, doi. 10.1002/pd.101
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- Publication type:
- Article
Optical mapping of the 22q11.2DS region reveals complex repeat structures and preferred locations for non-allelic homologous recombination (NAHR).
- Published in:
- Scientific Reports, 2020, v. 10, n. 1, p. 1, doi. 10.1038/s41598-020-69134-4
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- Publication type:
- Article
Alterations in Midline Cortical Thickness and Gyrification Patterns Mapped in Children with 22q11.2 Deletions.
- Published in:
- Cerebral Cortex, 2009, v. 19, n. 1, p. 115, doi. 10.1093/cercor/bhn064
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- Publication type:
- Article
Results of Genome-Wide Analyses on Neurodevelopmental Phenotypes at Four-Year Follow- Up following Cardiac Surgery in Infancy.
- Published in:
- PLoS ONE, 2012, v. 7, n. 9, p. 1, doi. 10.1371/journal.pone.0045936
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- Publication type:
- Article
Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes.
- Published in:
- Nature Genetics, 2002, v. 32, n. 2, p. 285, doi. 10.1038/ng985
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- Publication type:
- Article
Mutations in TGIF cause holoprosencephaly and link NODAL signalling to human neural axis determination.
- Published in:
- Nature Genetics, 2000, v. 25, n. 2, p. 205, doi. 10.1038/76074
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- Publication type:
- Article
Mutations in the homeodomain of the human SIX3 gene cause holoprosencephaly.
- Published in:
- Nature Genetics, 1999, v. 22, n. 2, p. 196, doi. 10.1038/9718
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- Publication type:
- Article
Prenatal diagnosis of mosaicism 46,XX/46,XX,-21,+t(21q21q).
- Published in:
- 1984
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- Publication type:
- journal article
Interstitial deletion 4p15.32p16.1 and complex chromoplexy in a female proband with severe neurodevelopmental delay, growth failure and dysmorphism.
- Published in:
- Molecular Cytogenetics (17558166), 2022, v. 15, n. 1, p. 1, doi. 10.1186/s13039-022-00610-4
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- Publication type:
- Article
Cleft Lip and Palate Repair in Hay-Wells/Ankyloblepharon-Ectodermal Dysplasia-Clefting Syndrome.
- Published in:
- Cleft Palate Craniofacial Journal, 2007, v. 44, n. 3, p. 335, doi. 10.1597/06-065
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- Publication type:
- Article
Velopharyngeal Anatomy in 22q11.2 Deletion Syndrome: A Three-Dimensional Cephalometric Analysis.
- Published in:
- Cleft Palate Craniofacial Journal, 2006, v. 43, n. 4, p. 446, doi. 10.1597/04-193R.1
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- Publication type:
- Article