Results 91 to 100 of about 88,012 (270)

A novel mutation and first report of dilated cardiomyopathy in ALG6-CDG (CDG-Ic): a case report

Orphanet Journal of Rare Diseases, 2010
Congenital disorders of glycosylation (CDG) are an expanding group of inherited metabolic diseases with multisystem involvement. ALG6-CDG (CDGIc) is an endoplasmatic reticulum defect in N-glycan assembly.
Zagal Ahmad, Kaya Namik, Mohamed Sarar, Al-Owain Mohammed, Matthijs Gert, Jaeken Jaak   +5 more
doaj   +1 more source

Attention and vigilance advantages related to formal musical training across childhood, adolescence and young adulthood

British Journal of Psychology, EarlyView.
Abstract Attention and vigilance are fundamental cognitive abilities that develop throughout childhood and adolescence and have been associated with cognitively demanding activities such as formal musical training. This cross‐sectional study examined whether individuals engaged in long‐term musical training show superior attention and vigilance ...
Rafael Román‐Caballero, Laura Trujillo, Paulina del Carmen Martín‐Sánchez, Elisa Martín‐Arévalo, Juan Lupiáñez   +4 more
wiley   +1 more source

Genetic analysis for two italian siblings with usher syndrome and schizophrenia. [PDF]

, 2012
Usher syndrome is a group of autosomal recessive genetic disorders characterized by deafness, retinitis pigmentosa, and sometimes vestibular areflexia.
Article Id, Daniela Domanico, Enzo Maria Vingolo, Marcella Nebbioso, Paolo Trabucco, Serena Fragiotta   +5 more
core   +3 more sources

Early predictors of cognitive trajectories from birth to adolescence in children born extremely preterm

Developmental Medicine &Child Neurology, EarlyView.
At 2 years, 10 years, and 15 years, the presence of early white matter injury (WMI) moderated associations between lower social risk and cognitive functioning in the social disadvantage index group x WMI interactions for combined abilities. Findings suggest that the benefits of low social risk were present in those without early WMI, but are ...
Stephen R. Hooper, Robert M. Joseph, T. Michael O′Shea, Karl C. K. Kuban, Rachana Singh, Jean A. Frazier, Genevieve Taylor, Xianming Tan, Rebecca C. Fry, Hudson P. Santos Jr, on behalf of the ELGAN Study Investigators   +10 more
wiley   +1 more source

A longitudinal high-risk study of adolescent anxiety, depression and parent-severity on the developmental course of risk-adjustment [PDF]

, 2014
Background Adolescence is associated with developments in the reward system and increased rates of emotional disorders. Familial risk for depression may be associated with disruptions in the reward system.
American Psychiatric Association, Angold, Angold, Bar-Haim, Blakemore, Carskadon, Casey, Caspi, Clark, Ernst, Ernst, Forbes, Forbes, Forbes, Forbes, Gotlib, Guyer, Guyer, Hammen, Jazbec, Kenny, Mars, McCabe, Murphy, Muthen, Patton, Petersen, Rawal, Richards, Rutter, Schafer, Steinberg, Thapar, Wechsler, Wing   +34 more
core   +2 more sources

Handwriting speed in left‐handed children with right‐sided neonatal brachial plexus palsy

Developmental Medicine &Child Neurology, EarlyView.
This observational study investigated whether left‐handed children with right‐sided neonatal brachial plexus palsy (NBPP) exhibit reduced handwriting speed compared with typically developing left‐handed peers and explored determinants of any observed differences.
Rani De Pauw, Laura Tack, Anke Van Bladel, Ruth Van der Looven   +3 more
wiley   +1 more source

Influence of functional brain asymmetry on coordination stability of children with intellectual disabilities

Учёные записки Санкт-Петербургского государственного медицинского университета им. Акад. И.П. Павлова
Introduction. Coordination stability is expressed in psychomotor control of motor activity by the human nervous system and in postural balance as a consequence of cortical-subcortical regulatory processes. With mental retardation, there is a violation of
D. V. Fedulova, K. A. Berdyugin
doaj   +1 more source

Chromosome 15 structural abnormalities: effect on IGF1R gene expression and function

Endocrine Connections, 2017
Insulin-like growth factor 1 receptor (IGF1R), mapping on the 15q26.3 chromosome, is required for normal embryonic and postnatal growth. The aim of the present study was to evaluate the IGF1R gene expression and function in three unrelated patients with ...
Rossella Cannarella, Teresa Mattina, Rosita A Condorelli, Laura M Mongioì, Giuseppe Pandini, Sandro La Vignera, Aldo E Calogero   +6 more
doaj   +1 more source

Clinical and genetic characterization of intellectual disability

Developmental Medicine &Child Neurology, EarlyView.
This study examines the etiological factors and comorbidities in a large cohort of Finnish patients with intellectual disability. Genetic causes—including chromosomal abnormalities and pathogenic gene variants—were more frequently identified in individuals with moderate to profound intellectual disability.
Aarni Venetvaara, Minna Kraatari‐Tiri, Jussi‐Pekka Tolonen, Marko Merikukka, IDGEN Study Group, Hannaleena Kokkonen, Teija Paakkola, Susanna Varis, Antti Dahl, Jarmo Körkkö, Jonna Komulainen‐Ebrahim, Jukka Moilanen, Johanna Uusimaa, Outi Kuismin, Elisa Rahikkala   +14 more
wiley   +1 more source

Rare sex chromosome aneuploidies: 49,XXXXY and 48,XXXY syndromes

The Turkish Journal of Pediatrics, 2009
49,XXXXY and 48,XXXY syndromes are rare gonosomal aneuploidies in which the affected individuals present with characteristic facial and skeletal malformations, intrauterine growth retardation, and psychomotor retardation.
Pelin Ozlem Simşek, Gülen Eda Utine, Ayfer Alikaşifoğlu, Yasemin Alanay, Koray Boduroğlu, Nurgün Kandemir   +5 more
doaj