Results 221 to 230 of about 313,330 (307)

Phenotype Expansion of Malan Syndrome: New Cases and a Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Malan syndrome is an ultra‐rare overgrowth syndrome caused by pathogenic variants or deletions in nuclear factor one X (NFIX) located at 19p13.2. Here, we report a comprehensive literature review and phenotyping of known patients with Malan syndrome and present a novel cohort of eight patients.
Alex F. Nisbet, Sylvie A. Adams, Zoe S. Katz, Christal G. Delagrammatikas, Kosuke Izumi, Winifred Sigal, Kim Ventarola, Elaine H. Zackai, Julia E. Reid, Grant T. Liu, Jennifer M. Kalish   +10 more
wiley   +1 more source

Perceptions and Attitudes Towards Intellectual Disability and Substance Use Disorder: A Quantitative Study Among Health Professionals. [PDF]

J Appl Res Intellect Disabil
Kemna LEM, VanDerNagel JEL, van Manen JG, Schellekens AAF.   +3 more
europepmc   +1 more source

Recurrent Genomic Alterations in BCRi‐Experienced CLL Patients Treated With Venetoclax: Extended Phase 2 Follow‐Up

American Journal of Hematology, EarlyView.
Jennifer A. Woyach, Relja Popovic, Emily L. Rossi, Sanjana Singh, Toshihiko Oki, Tanya S. Rosenberg, Chen Qian, Michael Moran, Zihuan Liu, Michelle Boyer, Jeffrey Jones, Richard R. Furman, William Wierda, Jason Gotlib, Stephen J. Schuster, Brenda Chyla, Matthew S. Davids   +16 more
wiley   +1 more source

Developmental and Phenotypic Outcomes in Mild Phenylalanine Hydroxylase Deficiency

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Benign hyperphenylalaninemia (bHPA) is defined as elevated phenylalanine (Phe) levels remaining ≤ 360 μmol/L (6 mg/dL) and not requiring medical intervention. Individuals with bHPA may demonstrate a rise in their Phe levels > 360 μmol/L, effectively developing a mild PKU phenotype requiring therapy to prevent neurocognitive complications. This
Aaron Williams, Kristian Divin, Lindsay C. Burrage, William J. Craigen, Fernando Scaglia, Claudia Soler‐Alfonso, V. Reid Sutton, Kevin E. Glinton, Ronit Marom   +8 more
wiley   +1 more source

Assessment of Posttraumatic Stress Disorder in Adults With Severe or Moderate Intellectual Disability Using the Diagnostic Interview Trauma and Stressors-Severe Intellectual Disability. [PDF]

J Intellect Disabil Res
Hoogstad A, Bouwmeester S, Mevissen L, Didden R.   +3 more
europepmc   +1 more source

Long‐Term Follow Up of Two Patients With Variants in the Cluster 1031‐1159 of TRRAP Gene: Expanding the Phenotype of Developmental Delay With or Without Dysmorphic Facies and Autism

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The transformation/transcription domain‐associated protein (TRRAP) gene encodes a large multidomain protein, a member of the phosphatidylinositol 3‐kinase‐related kinase (PIKK) family. TRRAP is a component of the histone acetyltransferase (HAT) complex, and it plays an important role in gene transcription, DNA repair, and cell‐cycle regulation.
Roseli Maria Zechi‐Ceide, Vinicius Contrucci Dantas Segarra, Siulan Vendramini‐Pittoli, Henrique Regonaschi Serigatto, Luiza Virmond, Heloisa Marcelina da Cunha Palhares, Fernanda Jehee, Ana Cristina Victorino Krepischi, Carla Rosenberg, Carlos Henrique Paiva Grangeiro, Nancy Mizue Kokitsu‐Nakata   +10 more
wiley   +1 more source

Prevalence and Modifiable Risk Factors of Dementia in People With Down Syndrome: Cross-Sectional Study of Japan in Collaboration With the Intellectual Diversity for Goodness Research Consortium (INDIGO-2019). [PDF]

J Intellect Disabil Res
Takenoshita S, Terada S, Inoue T, Kurozumi T, Takaki M, Kuwano R, Suemitsu S.   +6 more
europepmc   +1 more source

Clinical, Behavioral and Neuroradiological Phenotype in an Italian Cohort of Patients With Xia Gibbs Syndrome: A Multicenter Cross‐Sectional Study and Systematic Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Heterozygous variants in the AHDC1 gene are associated with Xia Gibbs Syndrome (XGS), a genetic disorder with a highly variable phenotype. Cognitive impairment, motor delay, language delay, neonatal hypotonia, and sleep apnea are considered “cardinal” signs of the disease.
Giulia Cinelli, Stefania Della Vecchia, Patrizia Bergonzini, Elisa Caramaschi, Elisabetta Spezia, Claudia Parenti, Simona Filomena Madeo, Laura Lucaccioni, Cavalleri Francesca, Marisa Pugliese, Federico Raviglione, Clara Colonna, Olga Calabrese, Ilaria Stanghellini, Maria Carmen Marongiu, Enrico Biagioni, Anna Rita Ferrari, Roberta Battini, Lorenzo Iughetti   +18 more
wiley   +1 more source

COVID-19 Vaccination and Health Outcomes Among Adults With an Intellectual Disability in British Columbia, Canada. [PDF]

J Intellect Disabil Res
Ye X, Zhang S, Nisingizwe MP, Sevcenco I, Ngo H, Parker A, Nie Y, Abayomi A, Chilton R, Henry B, Behn-Smith D.   +10 more
europepmc   +1 more source

Philosophy [PDF]

, 2010
Taylor, Richard C
core   +1 more source