Results 181 to 190 of about 2,601,816 (350)

Chung–Jansen Syndrome in a Young Woman with a PHIP Variant: Severe Obesity, Intellectual Disability, and Endocrine Abnormalities [PDF]

Francesco Donno, Federica Bianco, Roberta Schininà, Rita Selvatici, Giuseppina Stoico, Alessandra Ferlini, Alberto Gobbo, Maria Chiara Zatelli, Stefania Bigoni, Maria Rosaria Ambrosio   +9 more
openalex   +1 more source

DYRK1A-related intellectual disability syndrome

Česko-slovenská pediatrie, 2022
Kateřina Slabá, Hana Pálová, Petra Pokorná, Ondřej Slabý, Petra Konečná, Lucie Kolbová, Petr Jabandžiev, Dagmar Procházková   +7 more
openaire   +1 more source

Role of SoxE transcription factors in development and disease

Developmental Dynamics, EarlyView.
Abstract Sox8, Sox9, and Sox10 arose by multiple rounds of genome duplications from a single SoxE gene in ancestral vertebrates. In this review, we will briefly discuss the molecular structure and function of SoxE transcription factors and their evolutionary origin. We will then discuss their expression, function, and developmental disorders.
Merin Lawrence, Gerhard Schlosser
wiley   +1 more source

A STUDENT’S PERSPECTIVE: FRAGILE-X SYNDROME- COMMON INTELLECTUAL DISABILITY WITH GENETIC INHERITANCE

Tiya Chopra, Purva Masarankar, Usha Dave
openalex   +2 more sources

Secretopathies emerge as a new class of neurocristopathies

Developmental Dynamics, EarlyView.
Abstract Neural crest cells are a transient embryonic population of cells that give rise to a wide range of structures, including craniofacial cartilage and bone, peripheral neurons and glia, as well as components of the cardiac outflow tract, among others.
Amanda Teixeira, Cassandra Millet‐Boureima, Joshua A. Moore, Loydie A. Jerome‐Majewska   +3 more
wiley   +1 more source

Two case reports and a literature review of hyperphosphatasia with intellectual disability syndrome 2 caused by a <i>PIGO</i> mutation. [PDF]

Front Pediatr
Wang X, Zhao J, Zhao X, Ding L, Zhu M, Li Y.   +5 more
europepmc   +1 more source

An intellectual disability syndrome with single-nucleotide variants in O-GlcNAc transferase. [PDF]

Eur J Hum Genet, 2020
Pravata VM, Omelková M, Stavridis MP, Desbiens CM, Stephen HM, Lefeber DJ, Gecz J, Gundogdu M, Õunap K, Joss S, Schwartz CE, Wells L, van Aalten DMF.   +12 more
europepmc   +1 more source

Case Report: A new patient expanding the clinical spectrum of DOHH-associated syndrome with increased nuchal translucency, cardiomyopathy, hypoparathyroidism and mild intellectual disability [PDF]

Elise Daire, Sabine Dirani, Karine Braun, S. Lanta, Hélène Cavé, Adeline Alice Bonnard, Bénédicte Demeer   +6 more
openalex   +1 more source

Evidence for functional convergence between LZTS2 and DYRK1A during craniofacial development

Developmental Dynamics, EarlyView.
Abstract Background Precise control of DYRK1A dosage is essential for embryonic development, including craniofacial morphogenesis. While LZTS2 is among the most consistently identified DYRK1A‐interacting proteins, its roles in embryonic development remain incompletely understood, and its potential contribution to craniofacial development has not been ...
Nicole Cheng, Santiago Lima, Larisa Litovchick, Amanda J. G. Dickinson   +3 more
wiley   +1 more source