Found: 73
Select item for more details and to access through your institution.
Recurrent NF1 gene variants and their genotype/phenotype correlations in patients with Neurofibromatosis type I.
- Published in:
- Genes, Chromosomes & Cancer, 2022, v. 61, n. 1, p. 10, doi. 10.1002/gcc.22997
- By:
- Publication type:
- Article
Wolf–Hirschhorn syndrome-associated chromosome changes are not mediated by olfactory receptor gene clusters nor by inversion polymorphism on 4p16.
- Published in:
- 2008
- By:
- Publication type:
- Correction notice
Wolf–Hirschhorn syndrome-associated chromosome changes are not mediated by olfactory receptor gene clusters nor by inversion polymorphism on 4p16.
- Published in:
- Human Genetics, 2007, v. 122, n. 5, p. 423, doi. 10.1007/s00439-007-0412-5
- By:
- Publication type:
- Article
'A novel TRIP4 Variant Associated with Peripheral Neuropathy: Expanding the Clinical and Genetic Spectrum of ASC1-Related Myopathy'.
- Published in:
- Journal of Neuromuscular Diseases, 2024, v. 11, n. 1, p. 213, doi. 10.3233/JND-230110
- By:
- Publication type:
- Article
Neurofibromatosis Type 1 and Precocious Puberty.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2000, v. 13, p. 841, doi. 10.1515/jpem.2000.13.s1.841
- By:
- Publication type:
- Article
Early-onset dysphagia and severe neurodevelopmental disorder as early signs in a patient with two novel variants in NARS1: a case report and brief review of the literature.
- Published in:
- Neurogenetics, 2024, v. 25, n. 3, p. 287, doi. 10.1007/s10048-024-00760-0
- By:
- Publication type:
- Article
Improving the phenotype description of Basel-Vanagaite-Smirin-Yosef syndrome, MED25-related: polymicrogyria as a distinctive neuroradiological finding.
- Published in:
- Neurogenetics, 2021, v. 22, n. 1, p. 19, doi. 10.1007/s10048-020-00625-2
- By:
- Publication type:
- Article
Case Report: Sequential postzygotic HRAS mutation and gains of the paternal chromosome 11 carrying the mutated allele in a patient with epidermal nevus and rhabdomyosarcoma: evidence of a multiple-hit mechanism involving HRAS in oncogenic transformation.
- Published in:
- Frontiers in Genetics, 2023, p. 1, doi. 10.3389/fgene.2023.1231434
- By:
- Publication type:
- Article
Plasmatic and urinary glycosaminoglycan profile in a patient affected by multiple sulfatase deficiency.
- Published in:
- Clinical Chemistry & Laboratory Medicine, 2015, v. 53, n. 7, p. e157, doi. 10.1515/cclm-2014-0997
- By:
- Publication type:
- Article
Clinical and biochemical features guiding the diagnostics in neurometabolic cutis laxa.
- Published in:
- European Journal of Human Genetics, 2014, v. 22, n. 7, p. 888, doi. 10.1038/ejhg.2013.154
- By:
- Publication type:
- Article
Genetic Epilepsies and Developmental Epileptic Encephalopathies with Early Onset: A Multicenter Study.
- Published in:
- International Journal of Molecular Sciences, 2024, v. 25, n. 2, p. 1248, doi. 10.3390/ijms25021248
- By:
- Publication type:
- Article
Patterns of Novel Alleles and Genotype/Phenotype Correlations Resulting from the Analysis of 108 Previously Undetected Mutations in Patients Affected by Neurofibromatosis Type I.
- Published in:
- International Journal of Molecular Sciences, 2017, v. 18, n. 10, p. 2071, doi. 10.3390/ijms18102071
- By:
- Publication type:
- Article
Novel Insights from Clinical Practice: Xia-Gibbs Syndrome with Pes Cavus, Conjunctival Melanosis, and Eye Asymmetry due to a de novo AHDC1 Gene Variant – A Case Report and a Brief Review of the Literature.
- Published in:
- Molecular Syndromology, 2024, v. 15, n. 1, p. 63, doi. 10.1159/000530410
- By:
- Publication type:
- Article
Expanding Phenotype of SYT1-Related Neurodevelopmental Disorder: Case Report and Literature Review.
- Published in:
- Molecular Syndromology, 2023, v. 14, n. 6, p. 493, doi. 10.1159/000530586
- By:
- Publication type:
- Article
Endocrinological Abnormalities Are a Main Feature of 17p13.1 Microduplication Syndrome: A New Case and Literature Review.
- Published in:
- Molecular Syndromology, 2016, v. 7, n. 6, p. 337, doi. 10.1159/000450718
- By:
- Publication type:
- Article
Diprosopus: A Rare Case of Craniofacial Duplication and a Systematic Review of the Literature.
- Published in:
- Genes, 2023, v. 14, n. 9, p. 1745, doi. 10.3390/genes14091745
- By:
- Publication type:
- Article
Split Hand-Foot and Deafness in a Patient with 7q21.13-q21.3 Deletion Not Including the DLX5/6 Genes.
- Published in:
- Genes, 2023, v. 14, n. 8, p. 1526, doi. 10.3390/genes14081526
- By:
- Publication type:
- Article
MCPH1: A Novel Case Report and a Review of the Literature.
- Published in:
- Genes, 2022, v. 13, n. 4, p. 634, doi. 10.3390/genes13040634
- By:
- Publication type:
- Article
Smith-Magenis Syndrome—Clinical Review, Biological Background and Related Disorders.
- Published in:
- Genes, 2022, v. 13, n. 2, p. 335, doi. 10.3390/genes13020335
- By:
- Publication type:
- Article
Clinical and Molecular Diagnosis of Osteocraniostenosis in Fetuses and Newborns: Prenatal Ultrasound, Clinical, Radiological and Pathological Features.
- Published in:
- Genes, 2022, v. 13, n. 2, p. 261, doi. 10.3390/genes13020261
- By:
- Publication type:
- Article
Clinical and Genetic Findings in a Series of Eight Families with Arthrogryposis.
- Published in:
- Genes, 2022, v. 13, n. 1, p. 29, doi. 10.3390/genes13010029
- By:
- Publication type:
- Article
Neurological Phenotype of Mowat-Wilson Syndrome.
- Published in:
- Genes, 2021, v. 12, n. 7, p. 982, doi. 10.3390/genes12070982
- By:
- Publication type:
- Article
Adducted Thumb and Peripheral Polyneuropathy: Diagnostic Supports in Suspecting White–Sutton Syndrome: Case Report and Review of the Literature.
- Published in:
- Genes, 2021, v. 12, n. 7, p. 950, doi. 10.3390/genes12070950
- By:
- Publication type:
- Article
Clinical Manifestations in a Girl with NAA10-Related Syndrome and Genotype–Phenotype Correlation in Females.
- Published in:
- Genes, 2021, v. 13, n. 6, p. 900, doi. 10.3390/genes12060900
- By:
- Publication type:
- Article
Variable Expressivity of the Beckwith-Wiedemann Syndrome in Four Pedigrees Segregating Loss-of-Function Variants of CDKN1C.
- Published in:
- Genes, 2021, v. 12, n. 5, p. 706, doi. 10.3390/genes12050706
- By:
- Publication type:
- Article
Severe Peripheral Joint Laxity is a Distinctive Clinical Feature of Spondylodysplastic-Ehlers-Danlos Syndrome (EDS)-B4GALT7 and Spondylodysplastic-EDS-B3GALT6.
- Published in:
- Genes, 2019, v. 10, n. 10, p. 799, doi. 10.3390/genes10100799
- By:
- Publication type:
- Article
Clinical utility gene card for: Mowat-Wilson syndrome.
- Published in:
- European Journal of Human Genetics, 2011, v. 19, n. 8, p. 1, doi. 10.1038/ejhg.2011.12
- By:
- Publication type:
- Article
A double cryptic chromosome imbalance is an important factor to explain phenotypic variability in Wolf-Hirschhorn syndrome.
- Published in:
- European Journal of Human Genetics, 2004, v. 12, n. 10, p. 797, doi. 10.1038/sj.ejhg.5201203
- By:
- Publication type:
- Article
Phenotypic and molecular characterisation of the Aarskog-Scott syndrome: a survey of the clinical variability in light of FGD1 mutation analysis in 46 patients.
- Published in:
- European Journal of Human Genetics, 2004, v. 12, n. 1, p. 16, doi. 10.1038/sj.ejhg.5201081
- By:
- Publication type:
- Article
Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome.
- Published in:
- Nature Genetics, 2012, v. 44, n. 4, p. 445, doi. 10.1038/ng.1105
- By:
- Publication type:
- Article
Multiple sulfatase deficiency with neonatal manifestation.
- Published in:
- Italian Journal of Pediatrics, 2014, v. 40, n. 1, p. 1, doi. 10.1186/s13052-014-0086-2
- By:
- Publication type:
- Article
Loss-of-Function Mutations in PTPN11 Cause Metachondromatosis, but Not Ollier Disease or Maffucci Syndrome.
- Published in:
- PLoS Genetics, 2011, v. 7, n. 4, p. 1, doi. 10.1371/journal.pgen.1002050
- By:
- Publication type:
- Article
Ten-Year Longitudinal Study of Thyroid Function in Children with Down's Syndrome.
- Published in:
- Hormone Research in Paediatrics, 2014, v. 82, n. 2, p. 113, doi. 10.1159/000362450
- By:
- Publication type:
- Article
Identification of bi‐allelic LFNG variants in three patients and further clinical and molecular refinement of spondylocostal dysostosis 3.
- Published in:
- Clinical Genetics, 2023, v. 104, n. 2, p. 230, doi. 10.1111/cge.14336
- By:
- Publication type:
- Article
Heterozygous truncating variant of TAOK1 in a boy with periventricular nodular heterotopia: a case report and literature review of TAOK1-related neurodevelopmental disorders.
- Published in:
- BMC Medical Genomics, 2024, v. 17, n. 1, p. 1, doi. 10.1186/s12920-024-01840-8
- By:
- Publication type:
- Article
Growth hormone deficiency in a child with benign hereditary chorea caused by a de novo mutation of the TITF1/NKX2-1 gene.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2022, v. 35, n. 3, p. 411, doi. 10.1515/jpem-2021-0402
- By:
- Publication type:
- Article
Risk of congenital anomalies around a municipal solid waste incinerator: a GIS-based case-control study.
- Published in:
- International Journal of Health Geographics, 2009, v. 8, p. 1, doi. 10.1186/1476-072X-8-8
- By:
- Publication type:
- Article
ANKLE2‐related microcephaly: A variable microcephaly syndrome resembling Zika infection.
- Published in:
- Annals of Clinical & Translational Neurology, 2022, v. 9, n. 8, p. 1276, doi. 10.1002/acn3.51629
- By:
- Publication type:
- Article
Anesthesia in Mowat-Wilson syndrome: information on 11 Italian patients.
- Published in:
- Pediatric Reports, 2018, v. 10, n. 1, p. 14, doi. 10.4081/pr.2018.7514
- By:
- Publication type:
- Article
Incontinentia Pigmenti: Learning Disabilities Are a Fundamental Hallmark of the Disease.
- Published in:
- PLoS ONE, 2014, v. 9, n. 1, p. 1, doi. 10.1371/journal.pone.0087771
- By:
- Publication type:
- Article
Genotype–phenotype spectrum and correlations in Xia‐Gibbs syndrome: Report of five novel cases and literature review.
- Published in:
- Birth Defects Research, 2022, v. 114, n. 13, p. 759, doi. 10.1002/bdr2.2058
- By:
- Publication type:
- Article
Hennekam syndrome can be caused by FAT4 mutations and be allelic to Van Maldergem syndrome.
- Published in:
- Human Genetics, 2014, v. 133, n. 9, p. 1161, doi. 10.1007/s00439-014-1456-y
- By:
- Publication type:
- Article
Clinical and molecular characterization of 40 patients with classic Ehlers-Danlos syndrome: identification of 18 COL5A1 and 2 COL5A2 novel mutations.
- Published in:
- Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-58
- By:
- Publication type:
- Article
Clinical and molecular characterization of 40 patients with classic Ehlers-Danlos syndrome: identification of 18 COL5A1 and 2 COL5A2 novel mutations.
- Published in:
- 2013
- By:
- Publication type:
- journal article
Mowat-Wilson syndrome.
- Published in:
- Orphanet Journal of Rare Diseases, 2007, v. 2, p. 42, doi. 10.1186/1750-1172-2-42
- By:
- Publication type:
- Article
ALG8‐CDG: Molecular and phenotypic expansion suggests clinical management guidelines.
- Published in:
- Journal of Inherited Metabolic Disease, 2022, v. 45, n. 5, p. 969, doi. 10.1002/jimd.12527
- By:
- Publication type:
- Article
Maternal exposure to magnetic fields from high-voltage power lines and the risk of birth defects.
- Published in:
- Bioelectromagnetics, 2012, v. 33, n. 5, p. 405, doi. 10.1002/bem.21700
- By:
- Publication type:
- Article
Gait Alterations in Two Young Siblings with Progressive Pseudorheumatoid Dysplasia.
- Published in:
- Children, 2022, v. 9, n. 12, p. 1982, doi. 10.3390/children9121982
- By:
- Publication type:
- Article
Natural history and life-threatening complications in Myhre syndrome and review of the literature.
- Published in:
- 2016
- By:
- Publication type:
- journal article
De Barsy Syndrome: A genetically heterogeneous autosomal recessive cutis laxa syndrome related to P5CS and PYCR1 dysfunction.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 4, p. 927, doi. 10.1002/ajmg.a.35231
- By:
- Publication type:
- Article