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TBX2 Gene Duplication Associated With Complex Heart Defect and Skeletal Malformations

We report on a patient with mild mental retardation, prenatal onset growth retardation, cerebellar hypoplasia, and complex heart defect including: interventricular septal defect, patent foramen ovale, aortic coarctation, tricuspid valve insufficiency, mitral valve stenosis, and minor skeletal anomalies with hypoaplasia of the distal phalanges. ASNP-array analysis detected a de novo duplication of 17q23.2, encompassing the TBX2 gene. Animal models argue for a key role of Tbx2 during cardiac an...

Profile of pitolisant in the management of narcolepsy: design, development, and place in therapy

Narcolepsy is a rare sleep disorder characterized by excessive daytime sleepiness and rapid eye movement sleep dysregulation, manifesting as cataplexy and sleep paralysis, as well as hypnagogic and hypnopompic hallucinations. Disease onset may occur at any age, although adolescents and young adults are mainly affected. Currently, the diagnosis delay ranges from 8 to 10 years and drug therapy may only attenuate symptoms. Pitolisant is a first-in-class new drug currently authorized by the Europ...

Cyclosporine A microemulsion in dermatological practice: is oral solution better tolerated than soft gelatin capsules?

Position Statement: Linear prurigo is a subtype of chronic prurigo

Background: Chronic prurigo (CPG) is a distinct disease characterized by chronic pruritus, history and/or signs of prolonged scratching and multiple pruriginous lesions. It may present with various clinical manifestations, including papules, nodules, plaques or umbilicated lesions. Some patients with chronic pruritus show pruriginous linear and scaring scratch lesions (LSSL) and it is unclear whether these lesions belong to the spectrum of CPG. Objective: To achieve a consensus on the classif...

First report of hereditary Christ-Siemens-Touraine syndrome and non-segmental vitiligo association in a young adult: contraindication for vitiligo treatment

Scopri
Tipologia
  • 1 Contributo su Rivista9309
Autore
  • Giuseppe, Ippolito580
  • Veronese, Nicola457
  • Larocca, Luigi Maria369
  • Ralli, Massimo357
  • Cozza, Paola356
  • Novelli, Antonio356
  • Di Lorenzo, Giuseppe348
  • De Paulis, Ruggero261
  • Peluso, Gianfranco205
  • Gualano, Maria Rosaria198
Data di pubblicazione
  • In corso di stampa14
  • 2020 - 20253875
  • 2010 - 20193352
  • 2000 - 20091326
  • 1990 - 1999556
  • 1980 - 1989184
  • 1977 - 19792
Editore
  • ELSEVIER SCIENCE INC2
  • (C. Pasquier ed.), Monduzzi Editore1
  • GIMLE1
  • KARGER, ALLSCHWILERSTRASSE 10, CH...1
  • Masson1
  • W B Saunders Company LTD1
Rivista
  • INTERNATIONAL JOURNAL OF MOLECULA...137
  • INTERNATIONAL JOURNAL OF ENVIRONM...82
  • PLOS ONE77
  • HEROIN ADDICTION AND RELATED CLIN...76
  • JOURNAL OF CLINICAL MEDICINE69
  • SCIENTIFIC REPORTS69
  • EUROPEAN REVIEW FOR MEDICAL AND P...62
  • HUMAN REPRODUCTION54
  • CANCERS53
  • NUTRIENTS50
Keyword
  • Humans327
  • COVID-19247
  • Female174
  • Male157
  • SARS-CoV-2106
  • Adult75
  • Middle Aged71
  • Child65
  • Aged63
  • Animals55
Lingua
  • eng6829
  • ita538
  • fre10
  • grc5
  • ger4
  • lat3
  • dut1
  • enm1
  • por1
  • spa1
Accesso al fulltext
  • no fulltext7743
  • reserved1074
  • open487
  • partially open5