Found: 127
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Costello syndrome: clinical diagnosis in the first year of life.
- Published in:
- 2008
- By:
- Publication type:
- journal article
Familial recurrence of congenital heart disease: an overview and review of the literature.
- Published in:
- 2007
- By:
- Publication type:
- journal article
PTPN11 gene mutations: linking the Gln510Glu mutation to the "LEOPARD syndrome phenotype".
- Published in:
- 2006
- By:
- Publication type:
- journal article
Ventricular septal defect and deletion of chromosome 22q11: anatomical types and aortic arch anomalies.
- Published in:
- 2002
- By:
- Publication type:
- research
Clinical spectrum of Kabuki‐like syndrome caused by HNRNPK haploinsufficiency.
- Published in:
- Clinical Genetics, 2018, v. 93, n. 2, p. 401, doi. 10.1111/cge.13029
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- Publication type:
- Article
Joint dislocation and cerebral anomalies are consistently associated with oral-facial-digital syndrome type IV.
- Published in:
- Clinical Genetics, 1995, v. 48, n. 3, p. 156, doi. 10.1111/j.1399-0004.1995.tb04077.x
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- Publication type:
- Article
Complex chromosome rearrangements related 15q14 microdeletion plays a relevant role in phenotype expression and delineates a novel recurrent syndrome.
- Published in:
- 2011
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- Publication type:
- journal article
Acro-cardio-facial syndrome.
- Published in:
- 2010
- By:
- Publication type:
- journal article
Acro-cardio-facial syndrome.
- Published in:
- Orphanet Journal of Rare Diseases, 2010, v. 5, p. 25, doi. 10.1186/1750-1172-5-25
- By:
- Publication type:
- Article
Leopard syndrome.
- Published in:
- 2008
- By:
- Publication type:
- journal article
Leopard syndrome.
- Published in:
- Orphanet Journal of Rare Diseases, 2008, v. 3, p. 1, doi. 10.1186/1750-1172-3-13
- By:
- Publication type:
- Article
Establishment and Characterization of a Cell Line (S-RMS1) Derived from an Infantile Spindle Cell Rhabdomyosarcoma with SRF-NCOA2 Fusion Transcript.
- Published in:
- International Journal of Molecular Sciences, 2021, v. 22, n. 11, p. 5484, doi. 10.3390/ijms22115484
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- Publication type:
- Article
Genome-Wide DNA Methylation Analysis of a Cohort of 41 Patients Affected by Oculo-Auriculo-Vertebral Spectrum (OAVS).
- Published in:
- International Journal of Molecular Sciences, 2021, v. 22, n. 3, p. 1190, doi. 10.3390/ijms22031190
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- Publication type:
- Article
Clinical and Neurobehavioral Features of Three Novel Kabuki Syndrome Patients with Mosaic KMT2D Mutations and a Review of Literature.
- Published in:
- International Journal of Molecular Sciences, 2018, v. 19, n. 1, p. 82, doi. 10.3390/ijms19010082
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- Publication type:
- Article
Severe herpes virus 6 interstitial pneumonia in an infant with three variants in genes predisposing to lung disease.
- Published in:
- Journal of Medical Virology, 2021, v. 93, n. 8, p. 5182, doi. 10.1002/jmv.27016
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- Publication type:
- Article
Cognitive and Adaptive Characterization of Children and Adolescents with KBG Syndrome: An Explorative Study.
- Published in:
- Journal of Clinical Medicine, 2021, v. 10, n. 7, p. 1523, doi. 10.3390/jcm10071523
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- Publication type:
- Article
Analysis of gut microbiota in patients with Williams–Beuren Syndrome reveals dysbiosis linked to clinical manifestations.
- Published in:
- Scientific Reports, 2023, v. 13, n. 1, p. 1, doi. 10.1038/s41598-023-36704-1
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- Publication type:
- Article
Neuropsychological features in RASopathies: A pilot study on parent training program involving families of children with Noonan syndrome.
- Published in:
- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2022, v. 190, n. 4, p. 510, doi. 10.1002/ajmg.c.32025
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- Publication type:
- Article
Behavioral phenotype in Costello syndrome with atypical mutation: A case report.
- Published in:
- American Journal of Medical Genetics. Part B: Neuropsychiatric Genetics, 2015, v. 168B, n. 1, p. 66, doi. 10.1002/ajmg.b.32279
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- Publication type:
- Article
Neurobehavioral Phenotype Observed in KBG Syndrome Caused by ANKRD11 Mutations.
- Published in:
- American Journal of Medical Genetics. Part B: Neuropsychiatric Genetics, 2013, v. 162B, n. 1, p. 17, doi. 10.1002/ajmg.b.32113
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- Publication type:
- Article
The mendelian basis of congenital heart defects.
- Published in:
- Cardiology in the Young, 1996, v. 6, n. 4, p. 264, doi. 10.1017/S1047951100003887
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- Publication type:
- Article
Clinical and molecular cytogenetic studies of five new patients with 20q11q12 deletion and review of the literature: Proposition of two critical regions.
- Published in:
- American Journal of Medical Genetics. Part A, 2024, v. 194, n. 7, p. 1, doi. 10.1002/ajmg.a.63580
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- Publication type:
- Article
Posterior fossa ependymoma in neurodevelopmental syndrome caused by a de novo germline pathogenic POLR2A variant.
- Published in:
- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 9, p. 2796, doi. 10.1002/ajmg.a.62869
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- Publication type:
- Article
Crossed pulmonary arteries: An underestimated cardiovascular variant with a strong association with genetic syndromes—A report of 74 cases with systematic review of the literature.
- Published in:
- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 8, p. 2351, doi. 10.1002/ajmg.a.62763
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- Publication type:
- Article
Congenital heart defects in molecularly confirmed KBG syndrome patients.
- Published in:
- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 4, p. 1149, doi. 10.1002/ajmg.a.62632
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- Publication type:
- Article
Clinical and molecular characterizations of 11 new patients with type 1 Feingold syndrome: Proposal for selecting diagnostic criteria and further genetic testing in patients with severe phenotype.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 4, p. 1204, doi. 10.1002/ajmg.a.62068
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- Publication type:
- Article
Atypical 7q11.23 deletions excluding ELN gene result in Williams–Beuren syndrome craniofacial features and neurocognitive profile.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 1, p. 242, doi. 10.1002/ajmg.a.61937
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- Publication type:
- Article
Differences in morbidity and mortality in Down syndrome are related to the type of congenital heart defect.
- Published in:
- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 6, p. 1342, doi. 10.1002/ajmg.a.61586
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- Publication type:
- Article
KBG syndrome: Common and uncommon clinical features based on 31 new patients.
- Published in:
- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 5, p. 1073, doi. 10.1002/ajmg.a.61524
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- Publication type:
- Article
Familial aggregation of "apple peel" intestinal atresia and cardiac left‐sided obstructive lesions: A possible causal relationship with NOTCH1 gene mutations.
- Published in:
- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 8, p. 1570, doi. 10.1002/ajmg.a.61195
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- Publication type:
- Article
Burkitt lymphoma in a patient with Kabuki syndrome carrying a novel KMT2D mutation.
- Published in:
- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 1, p. 113, doi. 10.1002/ajmg.a.60674
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- Publication type:
- Article
Congenital heart diseases and cardiovascular abnormalities in 22q11.2 deletion syndrome: From well‐established knowledge to new frontiers.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 10, p. 2087, doi. 10.1002/ajmg.a.38662
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- Publication type:
- Article
Congenital heart defects in molecularly proven Kabuki syndrome patients.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 11, p. 2912, doi. 10.1002/ajmg.a.38417
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- Publication type:
- Article
Expanding the phenotypic spectrum of truncating POGZ mutations: Association with CNS malformations, skeletal abnormalities, and distinctive facial dysmorphism.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 7, p. 1965, doi. 10.1002/ajmg.a.38255
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- Publication type:
- Article
Gershoni-Baruch syndrome: First report of a surviving child.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 3, p. 707, doi. 10.1002/ajmg.a.37480
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- Publication type:
- Article
Sprengel anomaly in deletion 22q11.2 (DiGeorge/Velo-Cardio-Facial) syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 3, p. 661, doi. 10.1002/ajmg.a.37503
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- Publication type:
- Article
Coronary artery ectasia in Noonan syndrome: Report of an individual with SOS1 mutation and literature review.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 3, p. 665, doi. 10.1002/ajmg.a.37505
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- Publication type:
- Article
Cardiovascular malformations in Adams-Oliver syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 5, p. 1175, doi. 10.1002/ajmg.a.36764
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- Publication type:
- Article
A de novo proximal 3q29 chromosome microduplication in a patient with oculo auriculo vertebral spectrum.
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 4, p. 797, doi. 10.1002/ajmg.a.36951
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- Publication type:
- Article
Hypoplastic left heart syndrome and 21q22.3 deletion.
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 3, p. 579, doi. 10.1002/ajmg.a.36914
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- Publication type:
- Article
Identification of TBX5 mutations in a series of 94 patients with Tetralogy of Fallot.
- Published in:
- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 12, p. 3100, doi. 10.1002/ajmg.a.36783
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- Publication type:
- Article
Holt-Oram syndrome with intermediate atrioventricular canal defect, and aortic coarctation: Functional characterization of a de novo TBX5 mutation.
- Published in:
- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 6, p. 1419, doi. 10.1002/ajmg.a.36459
- By:
- Publication type:
- Article
Behavioral Profile in RASopathies.
- Published in:
- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 4, p. 934, doi. 10.1002/ajmg.a.36374
- By:
- Publication type:
- Article
JAG1 Mutation in a patient with deletion 22q11.2 syndrome and tetralogy of Fallot.
- Published in:
- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 12, p. 3133, doi. 10.1002/ajmg.a.36148
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- Publication type:
- Article
Overt cleft palate phenotype and TBX1 genotype correlations in velo-cardio-facial/DiGeorge/22q11.2 deletion syndrome patients.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 11, p. 2781, doi. 10.1002/ajmg.a.35512
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- Publication type:
- Article
Indicated prevention with long-chain polyunsaturated omega-3 fatty acids in patients with 22q11 DS genetically at high risk for psychosis. Protocol of a randomized, double-blind, placebo-controlled treatment trial.
- Published in:
- Early Intervention in Psychiatry, 2016, v. 10, n. 5, p. 390, doi. 10.1111/eip.12197
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- Publication type:
- Article
Further insight into the neurobehavioral pattern of children carrying the 2p16.3 heterozygous deletion involving NRXN1: Report of five new cases.
- Published in:
- Genes, Brain & Behavior, 2020, v. 19, n. 7, p. 1, doi. 10.1111/gbb.12687
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- Publication type:
- Article
New Findings concerning Cardiovascular Manifestations emerging from Long-term Follow-up of 150 patients with the Williams-Beuren-Beuren syndrome.
- Published in:
- Cardiology in the Young, 2009, v. 19, n. 6, p. 563, doi. 10.1017/S1047951109990837
- By:
- Publication type:
- Article
A standard echocardiographic and tissue Doppler study of morphological and functional findings in children with hypertrophic cardiomyopathy compared to those with left ventricular hypertrophy in the setting of Noonan and LEOPARD syndromes.
- Published in:
- Cardiology in the Young, 2008, v. 18, n. 6, p. 575, doi. 10.1017/S104795110800320X
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- Publication type:
- Article
Types of cardiac defects in children with Down's syndrome.
- Published in:
- 2006
- By:
- Publication type:
- Letter