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Novel congenital disorder of O-linked glycosylation caused by GALNT2 loss of function.
- Published in:
- 2020
- By:
- Publication type:
- journal article
Holoprosencephaly: report of four cases and genotype-phenotype correlations.
- Published in:
- Journal of Genetics, 2013, v. 92, n. 1, p. 97, doi. 10.1007/s12041-013-0215-5
- By:
- Publication type:
- Article
A Complex Genomic Rearrangement Resulting in Loss of Function of SCN1A and SCN2A in a Patient with Severe Developmental and Epileptic Encephalopathy.
- Published in:
- International Journal of Molecular Sciences, 2022, v. 23, n. 21, p. 12900, doi. 10.3390/ijms232112900
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- Publication type:
- Article
A New Intronic Variant in ECEL1 in Two Patients with Distal Arthrogryposis Type 5D.
- Published in:
- International Journal of Molecular Sciences, 2021, v. 22, n. 4, p. 2106, doi. 10.3390/ijms22042106
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- Publication type:
- Article
Homozygous HESX1 and COL1A1 Gene Variants in a Boy with Growth Hormone Deficiency and Early Onset Osteoporosis.
- Published in:
- International Journal of Molecular Sciences, 2021, v. 22, n. 2, p. 750, doi. 10.3390/ijms22020750
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- Publication type:
- Article
Parent-of-Origin Effects in 15q11.2 BP1-BP2 Microdeletion (Burnside-Butler) Syndrome.
- Published in:
- International Journal of Molecular Sciences, 2019, v. 20, n. 6, p. 1459, doi. 10.3390/ijms20061459
- By:
- Publication type:
- Article
Human placenta-derived neurospheres are susceptible to transformation after extensive in vitro expansion.
- Published in:
- Stem Cell Research & Therapy, 2014, v. 5, n. 2, p. 1, doi. 10.1186/scrt444
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- Publication type:
- Article
Delineating the psychiatric and behavioral phenotype of recurrent 2q13 deletions and duplications.
- Published in:
- American Journal of Medical Genetics. Part B: Neuropsychiatric Genetics, 2018, v. 177, n. 4, p. 397, doi. 10.1002/ajmg.b.32627
- By:
- Publication type:
- Article
Reciprocal Xp11.4p11.3 microdeletion/microduplication spanning USP9X, DDX3X, and CASK genes in two patients with syndromic intellectual disability.
- Published in:
- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 6, p. 1836, doi. 10.1002/ajmg.a.62694
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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
- By:
- Publication type:
- Article
8p23.1 deletion: Look out for left ventricular hypertrabeculation and not only congenital heart diseases. Single‐center experience and literature revision.
- Published in:
- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 3, p. 883, doi. 10.1002/ajmg.a.62598
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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
- By:
- Publication type:
- Article
PPP1R21‐related syndromic intellectual disability: Report of an adult patient and review.
- Published in:
- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 12, p. 3014, doi. 10.1002/ajmg.a.61889
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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
- By:
- Publication type:
- Article
A heterozygous, intragenic deletion of CNOT2 recapitulates the phenotype of 12q15 deletion syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 8, p. 1615, doi. 10.1002/ajmg.a.61217
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- Publication type:
- Article
LTBP2‐related "Marfan‐like" phenotype in two Roma/Gypsy subjects with the LTBP2 homozygous p.R299X variant.
- Published in:
- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 1, p. 104, doi. 10.1002/ajmg.a.10
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- Publication type:
- Article
An additional patient with a homozygous mutation in DCPS contributes to the delination of Al‐Raqad syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 12, p. 2781, doi. 10.1002/ajmg.a.40488
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- Publication type:
- Article
Small 4p16.3 deletions: Three additional patients and review of the literature.
- Published in:
- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 11, p. 2501, doi. 10.1002/ajmg.a.40512
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- Publication type:
- Article
Unclassifiable pattern of hypopigmentation in a patient with mosaic partial 12p tetrasomy without Pallister-Killian syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 7, p. 1943, doi. 10.1002/ajmg.a.38269
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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
- By:
- Publication type:
- Article
Donor splice-site mutation in CUL4B is likely cause of X-linked intellectual disability.
- Published in:
- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 9, p. 2294, doi. 10.1002/ajmg.a.36629
- By:
- Publication type:
- Article
First evidence of maternally inherited mosaicism in TGFBR1 and subtle primary myocardial changes in Loeys-Dietz syndrome: a case report.
- Published in:
- 2018
- By:
- Publication type:
- Case Study
X‐linked ichthyosis: Clinical and molecular findings in 35 Italian patients.
- Published in:
- Experimental Dermatology, 2019, v. 28, n. 10, p. 1156, doi. 10.1111/exd.13667
- By:
- Publication type:
- Article
Neurological and Neuroimaging Features of CYB5R3 -Related Recessive Hereditary Methemoglobinemia Type II.
- Published in:
- 2022
- By:
- Publication type:
- Case Study
7q11.23 Microduplication Syndrome: Clinical and Neurobehavioral Profiling.
- Published in:
- Brain Sciences (2076-3425), 2020, v. 10, n. 11, p. 839, doi. 10.3390/brainsci10110839
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- Publication type:
- Article
Deep Intronic LINE-1 Insertions in NF1 : Expanding the Spectrum of Neurofibromatosis Type 1-Associated Rearrangements.
- Published in:
- Biomolecules (2218-273X), 2023, v. 13, n. 5, p. 725, doi. 10.3390/biom13050725
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- Publication type:
- Article
Array-CGH Analysis in a Cohort of Phenotypically Well-Characterized Individuals with “Essential” Autism Spectrum Disorders.
- Published in:
- Journal of Autism & Developmental Disorders, 2018, v. 48, n. 2, p. 442, doi. 10.1007/s10803-017-3329-4
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- Publication type:
- Article
High-resolution SNP arrays in mental retardation diagnostics: how much do we gain?
- Published in:
- European Journal of Human Genetics, 2010, v. 18, n. 2, p. 178, doi. 10.1038/ejhg.2009.154
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- Publication type:
- Article
A familial chromosomal complex rearrangement confirms RUNX1T1 as a causative gene for intellectual disability and suggests that 1p22.1p21.3 duplication is likely benign.
- Published in:
- Molecular Cytogenetics (17558166), 2019, v. 12, n. 1, p. N.PAG, doi. 10.1186/s13039-019-0440-6
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- Publication type:
- Article
408 kb 15q11.2 microduplication by array comparative genomic hybridization in a fetus presenting with exomphalos, micrognathia, tetralogy of Fallot and normal karyotype: A genetic counseling dilemma in paternal carrier status.
- Published in:
- Congenital Anomalies, 2015, v. 55, n. 1, p. 65, doi. 10.1111/cga.12078
- By:
- Publication type:
- Article
A non‐hemispheric transtentorial ZFTA fusion‐positive ependymoma in a 6‐month‐old boy.
- Published in:
- Neuropathology & Applied Neurobiology, 2023, v. 49, n. 1, p. 1, doi. 10.1111/nan.12886
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- Publication type:
- Article
Paediatric astroblastoma‐like neuroepithelial tumour of the spinal cord with a MAMLD1‐BEND2 rearrangement.
- Published in:
- Neuropathology & Applied Neurobiology, 2022, v. 48, n. 5, p. 1, doi. 10.1111/nan.12814
- By:
- Publication type:
- Article
Next Generation Sequencing Uncovers a Rare Case of X-linked Ichthyosis in an Adopted Girl Homozygous for a Novel Nonsense Mutation in the STS Gene.
- Published in:
- Acta Dermato-Venereologica, 2019, v. 99, n. 9, p. 828, doi. 10.2340/00015555-3162
- By:
- Publication type:
- Article
Biallelic variants in ZNF142 lead to a syndromic neurodevelopmental disorder.
- Published in:
- Clinical Genetics, 2022, v. 102, n. 2, p. 98, doi. 10.1111/cge.14165
- By:
- Publication type:
- Article
Expansion of the clinical and molecular spectrum of an XPD‐related disorder linked to biallelic mutations in ERCC2 gene.
- Published in:
- Clinical Genetics, 2021, v. 99, n. 6, p. 842, doi. 10.1111/cge.13957
- By:
- Publication type:
- Article
Confirmation of BRD4 haploinsufficiency role in Cornelia de Lange–like phenotype and delineation of a 19p13.12p13.11 gene contiguous syndrome.
- Published in:
- Annals of Human Genetics, 2019, v. 83, n. 2, p. 100, doi. 10.1111/ahg.12289
- By:
- Publication type:
- Article
Expanding the spectrum of EWSR1‐PATZ1 rearranged CNS tumors: An infantile case with leptomeningeal dissemination.
- Published in:
- Brain Pathology, 2021, v. 31, n. 3, p. 1, doi. 10.1111/bpa.12934
- By:
- Publication type:
- Article
Uniparental isodisomy of chromosome 1 results in glycogen storage disease type III with profound growth retardation.
- Published in:
- Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 5, p. N.PAG, doi. 10.1002/mgg3.634
- By:
- Publication type:
- Article
Congenital Heart Defects in Patients with Molecularly Confirmed Sotos Syndrome.
- Published in:
- Diagnostics (2075-4418), 2024, v. 14, n. 6, p. 594, doi. 10.3390/diagnostics14060594
- By:
- Publication type:
- Article
Medulloblastoma Associated with Down Syndrome: From a Rare Event Leading to a Pathogenic Hypothesis.
- Published in:
- Diagnostics (2075-4418), 2021, v. 11, n. 2, p. 254, doi. 10.3390/diagnostics11020254
- By:
- Publication type:
- Article
A previously undescribed de novo 4p15 deletion in a patient with apparently isolated metopic craniosynostosis.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 10, p. 2543, doi. 10.1002/ajmg.a.34201
- By:
- Publication type:
- Article
Prevalence of recurrent pathogenic microdeletions and microduplications in over 9500 pregnancies.
- Published in:
- Prenatal Diagnosis, 2015, v. 35, n. 8, p. 801, doi. 10.1002/pd.4613
- By:
- Publication type:
- Article
Case report: A new de novo 6q21q22.1 interstitial deletion case in a girl with cerebellar vermis hypoplasia and developmental delay and literature review.
- Published in:
- Frontiers in Genetics, 2024, p. 1, doi. 10.3389/fgene.2023.1315291
- By:
- Publication type:
- Article
Different Mechanisms Cause Hypomethylation of Both H19 and KCNQ1OT1 Imprinted Differentially Methylated Regions in Two Cases of Silver–Russell Syndrome Spectrum.
- Published in:
- Genes, 2022, v. 13, n. 10, p. N.PAG, doi. 10.3390/genes13101875
- By:
- Publication type:
- Article
Clinical Application of Easychip 8x15K Platform in 4106 Pregnancies Without Ultrasound Anomalies.
- Published in:
- Reproductive Sciences, 2021, v. 28, n. 4, p. 1142, doi. 10.1007/s43032-020-00419-9
- By:
- Publication type:
- Article
The impact of next-generation sequencing on the diagnosis of pediatric-onset hereditary spastic paraplegias: new genotype-phenotype correlations for rare HSP-related genes.
- Published in:
- Neurogenetics, 2018, v. 19, n. 2, p. 111, doi. 10.1007/s10048-018-0545-9
- By:
- Publication type:
- Article
Interstitial 10q21.1q23.31 Duplication due to Meiotic Recombination of a Paternal Balanced Complex Rearrangement: Cytogenetic and Molecular Characterization.
- Published in:
- Cytogenetic & Genome Research, 2017, v. 151, n. 4, p. 179, doi. 10.1159/000475490
- By:
- Publication type:
- Article
Cardiovascular Involvement in Pediatric FLNC Variants: A Case Series of Fourteen Patients.
- Published in:
- Journal of Cardiovascular Development & Disease (JCDD), 2022, v. 9, n. 10, p. 332, doi. 10.3390/jcdd9100332
- By:
- Publication type:
- Article
PTCHD1 gene mutation/deletion: the cognitive-behavioral phenotyping of four case reports.
- Published in:
- Frontiers in Psychiatry, 2024, p. 1, doi. 10.3389/fpsyt.2023.1327802
- By:
- Publication type:
- Article