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Small-expanded allele spinocerebellar ataxia 17: imaging and phenotypic variability.
- Published in:
- Neurological Sciences, 2021, v. 42, n. 10, p. 4309, doi. 10.1007/s10072-021-05313-z
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- Publication type:
- Article
Identification of a DNA Methylation Episignature in the 22q11.2 Deletion Syndrome.
- Published in:
- International Journal of Molecular Sciences, 2021, v. 22, n. 16, p. 8611, doi. 10.3390/ijms22168611
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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
Imerslund-Gräsbeck Syndrome in an Infant with a Novel Intronic Variant in the AMN Gene: A Case Report.
- Published in:
- International Journal of Molecular Sciences, 2019, v. 20, n. 3, p. 527, doi. 10.3390/ijms20030527
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- Publication type:
- Article
Expanding the Clinical Spectrum of Sotos Syndrome in a Patient with the New "c.[5867T>A]+[=]"; "p.[Leu1956Gln]+[=]" NSD1 Missense Mutation and Complex Skin Hamartoma.
- Published in:
- International Journal of Molecular Sciences, 2018, v. 19, n. 10, p. 3189, doi. 10.3390/ijms19103189
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- Publication type:
- Article
A Child with a c.6923_6928dup (p.Arg2308_Met2309dup) SPTAN1 Mutation Associated with a Severe Early Infantile Epileptic Encephalopathy.
- Published in:
- International Journal of Molecular Sciences, 2018, v. 19, n. 7, p. 1976, doi. 10.3390/ijms19071976
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- Publication type:
- Article
Late-Onset N-Acetylglutamate Synthase Deficiency: Report of a Paradigmatic Adult Case Presenting with Headaches and Review of the Literature.
- Published in:
- International Journal of Molecular Sciences, 2018, v. 19, n. 2, p. 345, doi. 10.3390/ijms19020345
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- Publication type:
- Article
Epileptogenic Brain Malformations and Mutations in Tubulin Genes: A Case Report and Review of the Literature.
- Published in:
- 2017
- By:
- Publication type:
- Case Study
Juvenile Moyamoya and Craniosynostosis in a Child with Deletion 1p32p31: Expanding the Clinical Spectrum of 1p32p31 Deletion Syndrome and a Review of the Literature.
- Published in:
- 2017
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- Publication type:
- Case Study
A novel ATP1A2 gene mutation in familial hemiplegic migraine and epilepsy.
- Published in:
- Cephalalgia, 2014, v. 34, n. 1, p. 68, doi. 10.1177/0333102413498941
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- Publication type:
- Article
A Clinical and Molecular Survey of 62 Cystic Fibrosis Patients from Umbria (Central Italy) Disclosing a High Frequency (2.4%) of the 2184insA Allele: Implications for Screening.
- Published in:
- Public Health Genomics, 2017, v. 19, n. 6, p. 336, doi. 10.1159/000450849
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- Publication type:
- Article
Quality of bladder cancer treatment information on YouTube: May the user's profile affect the quality of results?
- Published in:
- Archives of Italian Urology & Andrology / Archivio Italiano di Urologia Andrologia, 2024, v. 96, n. 1, p. 1, doi. 10.4081/aiua.2024.12179
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- Publication type:
- Article
Early diagnosis and management of arterio-ureteral fistulas: A literature review.
- Published in:
- Archives of Italian Urology & Andrology / Archivio Italiano di Urologia Andrologia, 2023, v. 95, n. 1, p. 1, doi. 10.4081/aiua.2023.10928
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- Publication type:
- Article
Oncological and functional outcomes of extraperitoneal laparoscopic radical prostatectomy: An 18-years, single-center experience.
- Published in:
- Archives of Italian Urology & Andrology / Archivio Italiano di Urologia Andrologia, 2021, v. 93, n. 3, p. 268, doi. 10.4081/aiua.2021.3.268
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- Publication type:
- Article
Predictors of surgical outcomes of retroperitoneal laparoscopic partial nephrectomy.
- Published in:
- Archives of Italian Urology & Andrology / Archivio Italiano di Urologia Andrologia, 2020, v. 92, n. 3, p. 165, doi. 10.4081/aiua.2020.3.165
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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
A patient with novel MBOAT7 variant: The cerebellar atrophy is progressive and displays a peculiar neurometabolic profile.
- Published in:
- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 10, p. 2377, doi. 10.1002/ajmg.a.61773
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- Publication type:
- Article
A novel MED12 mutation: Evidence for a fourth phenotype.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 9, p. 2377, doi. 10.1002/ajmg.a.37805
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- Publication type:
- Article
Recurrent ∼100 Kb microdeletion in the chromosomal region 14q11.2, involving CHD8 gene, is associated with autism and macrocephaly.
- Published in:
- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 12, p. 3137, doi. 10.1002/ajmg.a.36741
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- Publication type:
- Article
Nablus mask-like facial syndrome: Deletion of chromosome 8q22.1 is necessary but not sufficient to cause the phenotype.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 9, p. 2091, doi. 10.1002/ajmg.a.35446
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- Publication type:
- Article
Acrofrontofacionasal dysostosis 1 in two sisters of Indian origin.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 12, p. 3125, doi. 10.1002/ajmg.a.34295
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- Publication type:
- Article
Cleft palate and ADULT phenotype in a patient with a novel TP63 mutation suggests lumping of EEC/LM/ADULT syndromes into a unique entity: ELA syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 11, p. 2746, doi. 10.1002/ajmg.a.34270
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- Publication type:
- Article
7q11.23 dosage-dependent dysregulation in human pluripotent stem cells affects transcriptional programs in disease-relevant lineages.
- Published in:
- Nature Genetics, 2015, v. 47, n. 2, p. 132, doi. 10.1038/ng.3169
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- Publication type:
- Article
Autosomal Dominant PTH Gene Signal Sequence Mutation in a Family With Familial Isolated Hypoparathyroidism.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2017, p. 3961, doi. 10.1210/jc.2017-00250
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- Publication type:
- Article
Autosomal Dominant PTH Gene Signal Sequence Mutation in a Family With Familial Isolated Hypoparathyroidism.
- Published in:
- 2017
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- Publication type:
- journal article
JAG1 Loss-Of-Function Variations as a Novel Predisposing Event in the Pathogenesis of Congenital Thyroid Defects.
- Published in:
- 2016
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- Publication type:
- journal article
A genetic-demographic approach reveals a gender-specific association of SLC6A3/ DAT1 40 bp-VNTR with life-expectancy.
- Published in:
- Biogerontology, 2015, v. 16, n. 3, p. 365, doi. 10.1007/s10522-015-9552-5
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- Publication type:
- Article
Novel genetic variants of KHDC3L and other members of the subcortical maternal complex associated with Beckwith–Wiedemann syndrome or Pseudohypoparathyroidism 1B and multi-locus imprinting disturbances.
- Published in:
- Clinical Epigenetics, 2022, v. 14, p. 1, doi. 10.1186/s13148-022-01292-w
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- Publication type:
- Article
Expanding the genetic and clinical characteristics of Protocadherin 19 gene mutations.
- Published in:
- 2022
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- Publication type:
- Case Study
Genotype-phenotype correlation of F484L mutation in three Italian families with Thomsen myotonia.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Heterozygous X-linked adrenoleukodystrophy-associated myelopathy mimicking primary progressive multiple sclerosis.
- Published in:
- 2011
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- Publication type:
- Letter
Characterization of 14 novel deletions underlying Rubinstein-Taybi syndrome: an update of the CREBBP deletion repertoire.
- Published in:
- Human Genetics, 2015, v. 134, n. 6, p. 613, doi. 10.1007/s00439-015-1542-9
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- Publication type:
- Article
Hypothesis: gonadal temperature influences sex-specific imprinting.
- Published in:
- Frontiers in Genetics, 2014, v. 5, p. 1, doi. 10.3389/fgene.2014.00294
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- Publication type:
- Article
Brief Report: Functional MRI of a Patient with 7q11.23 Duplication Syndrome and Autism Spectrum Disorder.
- Published in:
- 2014
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- Publication type:
- Report
Five children with deletions of 1p34.3 encompassing AGO1 and AGO3.
- Published in:
- European Journal of Human Genetics, 2015, v. 23, n. 6, p. 761, doi. 10.1038/ejhg.2014.202
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- Publication type:
- Article
Stem cells from human amniotic fluid exert immunoregulatory function via secreted indoleamine 2,3-dioxygenase1.
- Published in:
- Journal of Cellular & Molecular Medicine, 2015, v. 19, n. 7, p. 1593, doi. 10.1111/jcmm.12534
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- Publication type:
- Article
IRF2BPL: A new genotype for progressive myoclonus epilepsies.
- Published in:
- Epilepsia (Series 4), 2023, v. 64, n. 8, p. e164, doi. 10.1111/epi.17557
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- Publication type:
- Article
RAP1-mediated MEK/ERK pathway defects in Kabuki syndrome.
- Published in:
- Journal of Clinical Investigation, 2015, v. 125, n. 9, p. 3585, doi. 10.1172/JCI80102
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- 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
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- Publication type:
- Article
Xq12-q13.3 duplication: Evidence of a recurrent syndrome.
- Published in:
- Annals of Neurology, 2012, v. 72, n. 5, p. 821, doi. 10.1002/ana.23754
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- Publication type:
- Article
Myostatin depletion: A therapy for Ehlers-Danlos syndrome?
- Published in:
- Annals of Neurology, 2010, v. 67, n. 1, p. 147, doi. 10.1002/ana.21828
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- Publication type:
- Article
CDKL5 deficiency-related neurodevelopmental disorders: a multi-center cohort study in Italy.
- Published in:
- Journal of Neurology, 2024, v. 271, n. 8, p. 5368, doi. 10.1007/s00415-024-12421-1
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- Publication type:
- Article
Succinate-CoA ligase deficiency due to mutations in SUCLA2 and SUCLG1: phenotype and genotype correlations in 71 patients.
- Published in:
- Journal of Inherited Metabolic Disease, 2016, v. 39, n. 2, p. 243, doi. 10.1007/s10545-015-9894-9
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- Publication type:
- Article
Novel mutations in the WFS1 gene are associated with Wolfram syndrome and systemic inflammation.
- Published in:
- Human Molecular Genetics, 2021, v. 30, n. 3/4, p. 265, doi. 10.1093/hmg/ddab040
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- Publication type:
- Article
Report of a Novel SHOX Missense Variant in a Boy With Short Stature and His Mother With Leri--Weill Dyschondrosteosis.
- Published in:
- Frontiers in Endocrinology, 2018, p. 1, doi. 10.3389/fendo.2018.00163
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- Publication type:
- Article
Childhood-onset dystonia-causing KMT2B variants result in a distinctive genomic hypermethylation profile.
- Published in:
- Clinical Epigenetics, 2021, v. 13, n. 1, p. 1, doi. 10.1186/s13148-021-01145-y
- By:
- Publication type:
- Article
Migraine and epilepsy: what value today?
- Published in:
- Journal of Headache & Pain, 2015, v. 16, p. 1, doi. 10.1186/1129-2377-16-S1-A44
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- Publication type:
- Article
Deletion 2p15-16.1 syndrome: Case report and review.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 10, p. 2473, doi. 10.1002/ajmg.a.33875
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- Publication type:
- Article
Craniometaphyseal dysplasia with severe craniofacial involvement shows homozygosity at 6q21-22.1 locus.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 5, p. 1106, doi. 10.1002/ajmg.a.33826
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- Publication type:
- Article
Trisomy 2 mosaicism with caudal dysgenesis, Hirschsprung disease, and micro-anophthalmia.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 4, p. 928, doi. 10.1002/ajmg.a.33817
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- Publication type:
- Article