Results 231 to 240 of about 4,075,610 (383)

Unraveling the Genomic Architecture of Supernumerary (Iso‐)Dicentric Chromosomes in Dup15q Syndrome: Insight From a Systematic Literature‐Based Study

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Chromosomal aberrations, particularly copy‐number variations (CNVs), are prevalent in neurodevelopmental disorders (NDD) and significantly contribute to their pathogenesis. Copy‐number gains (CN gains) in 15q11‐q13, primarily consisting of a pseudo (iso‐)dicentric chromosome 15 [(i)dic(15)] or an interstitial duplication, are among the most ...
Sebastian Burkart, Markus Ries, Verena Romero, Karin Burau, Christian P. Schaaf, Maja Hempel   +5 more
wiley   +1 more source

Sleep Disorders in Patients with Epilepsy. [PDF]

Noro Psikiyatr Ars
Mutlu A, Şişman AB, Günaydın S, Balcı BP.   +3 more
europepmc   +1 more source

ABC of sleep disorders. Sleep disorders in children. [PDF]

BMJ, 1993
S Scott, T Jaffa, J H Hendriks, C M Shapiro   +3 more
openaire   +3 more sources

Speech and Language Disorders Associated With 7q31 Deletions Implicating FOXP2

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Some 7q31 deletions encompass FOXP2, a gene long associated with speech and language disorders. Intragenic pathogenic FOXP2 variants cause FOXP2‐related speech and language disorder, which has been well characterized in the literature. Conversely, the phenotype associated with 7q31 deletions is neglected.
Lottie D. Morison, Ruth Braden, David J. Amor, Angela T. Morgan   +3 more
wiley   +1 more source

The Use of Sleep Tests for Suspected Sleep Disordered Breathing [PDF]

, 1999
Samuel A. Mickelson
openalex   +1 more source

Challenges in Genomic Variant Interpretation Within Pakistani Populations due to Genomic Healthcare Inequalities

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Accurate classification of genomic variants is crucial to ensure correct diagnosis, genetic counseling, and clinical management of monogenic inherited disorders. Variant interpretation can be hindered in populations that are significantly underrepresented in large reference genomic databases, leading to genomic healthcare inequalities. Despite
Zantasha Khalid, Matthew Adams, Anees Muhammad, Raeesa Tehreen, Arfa Azeem, Asif Ahmed, Nishanka Ubeyratna, Claire G. Salter, Joseph S. Leslie, Nikol Voutsina, Emma L. Baple, Andrew H. Crosby, Sabika Firasat, Muhammad Tahir Sarwar, Shamim Saleha, Asma Gul, Lettie E. Rawlins   +16 more
wiley   +1 more source

Sleep Disorders in Children with Rett Syndrome. [PDF]

Children (Basel)
Harner C, Gaffey TA, Sullivan SS, Witmans M, DelRosso LM, Tablizo MA.   +5 more
europepmc   +1 more source

Differential Rates of Psychopathology Symptoms in Periodic Limb Movement Disorder, Obstructive Sleep Apnea, Psychophysiological Insomnia, and Insomnia with Psychiatric Disorder

, 1999
James E. Aikens, Peter A. Vanable, Lakshminarayana Tadimeti, Brendan Caruana-Montaldo, Wallace B. Mendelson   +4 more
openalex   +1 more source

Sleep-disordered breathing in children [PDF]

, 1998
Christian Guilleminault, Rafael Pelayo
openalex   +1 more source

CLCN4‐Related Neurodevelopmental Condition: Characterization of Speech and Language Abilities

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Speech and language difficulties are a core feature of the CLCN4‐related neurodevelopmental condition, but these have not been well described. Here we systematically phenotype speech and language in 13 participants (10 female, aged 1 year 10 months–41 years 10 months) with pathogenic CLCN4 variants (12 missense de novo, 1 premature stop codon ...
Alexandra Garrett, Vera M. Kalscheuer, Rebeca Ridings Figueroa, Elizabeth E. Palmer, Angela T. Morgan   +4 more
wiley   +1 more source