Results 261 to 270 of about 3,786,126 (364)

A new association between Kleefstra syndrome and Panayiotopoulos epilepsy. [PDF]

Ital J Pediatr
Giliberti A, Giustiniano S, Carbonaro Y, Frisina AM, Roccella M, Serra G, Nardello R.   +6 more
europepmc   +1 more source

Genome Sequencing Uncovers Additional Findings in Phelan‐McDermid Syndrome

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Phelan‐McDermid syndrome (PMS) is a genetic condition caused by deletions of chromosome 22q13.3 or pathogenic variants in the SHANK3 gene. Neurologic features typically include intellectual disability, autism spectrum disorder, hypotonia, and absent speech, though there is considerable variability even among individuals with the same molecular
Rachel Gore Moses, Morgan Similuk, Alexandra Hehn, Rylee Duncan, Margaret Pekar, Eliza Gordon‐Lipkin, Maria T. Acosta, Deena Zeltser, Nadjalisse Reynolds‐Lallement, Latha Soorya, Mustafa Sahin, Tess Levy, Alexander Kolevzon, Joseph D. Buxbaum, Elizabeth Berry‐Kravis, Craig M. Powell, Jonathan A. Bernstein, Mari Tokita, Bryce A. Seifert, Rajarshi Ghosh, Magdalena A. Walkiewicz, Audrey Thurm   +21 more
wiley   +1 more source

Neonatal seizures associated with a rare familial 16p11.2 microduplication: A case report. [PDF]

J Int Med Res
Chen J, Bi S, Wang J, Dai L.
europepmc   +1 more source

The Role of SLC39A8.p.(Ala391Thr) in Schizophrenia Symptom Severity and Cognitive Ability: Cross‐Sectional Studies of Schizophrenia and the General UK Population

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT The missense SNP NC_000004.12:g.102267552C>T (also known as SLC39A8.p.(Ala391Thr), rs13107325) in SLC39A8 encodes a zinc transporter. This SNP has been linked to schizophrenia and is the likely causal variant for one of the genome‐wide association loci associated with the disorder. Using regression analyses, we tested whether the schizophrenia‐
Sophie E. Smart, Sophie E. Legge, Eilidh Fenner, Antonio F. Pardiñas, Grace Woolway, Amy J. Lynham, Valentina Escott‐Price, Jeremy Hall, Lawrence Wilkinson, Peter Holmans, Michael C. O'Donovan, Michael J. Owen, James T.R. Walters   +12 more
wiley   +1 more source

Rare 48, XXYY Syndrome with Primary Infertility and Behavioural Disorder: A Case Report. [PDF]

J Hum Reprod Sci
Ambulkar PS, Jain S, Waghmare J, Narang P.   +3 more
europepmc   +1 more source

Genome‐Wide Insights and Polygenic Risk Scores in Common Epilepsies: A Narrative Review

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT The research of single gene‐related disorders or pathogenic copy‐number variations (CNVs) has given a significant impetus to the shift from a diagnostic work‐up focused on epileptic syndromes to genomic approaches in individuals with severe pediatric‐onset epilepsies and in developmental and epileptic encephalopathies.
Mario Mastrangelo, Simona Petrucci, Giuliana Lentini, Marco Fabiani, Maria Piane, Francesco Pisani   +5 more
wiley   +1 more source

An Uncommon Cause of Progressive Rest, Postural and Kinetic Tremor With Ataxia in a Middle-Aged Man: A Rare Case of Klinefelter's Syndrome. [PDF]

J Mov Disord
Naeem M, Bhattacharjee S.
europepmc   +1 more source

JAK2V617F-positive polycythemia vera and Philadelphia chromosome-positive chronic myeloid leukemia: one patient with two distinct myeloproliferative disorders

Leukemia, 2008
N. Cambier, Aline Renneville, T. Cazaentre, V. Soenen, C. Cossement, S. Giraudier, N. Grardel, J. Laï, C. Rose, C. Preudhomme   +9 more
semanticscholar   +1 more source

The Impact of the Parental Patterns of Morbidity and Comorbidity in the Cross‐Generational Transmission of Risk for Major Depression and Alcohol Use Disorder

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT To further understand the inter‐relationship of the familial transmission of major depression (MD) and alcohol use disorder (AUD), we examine, via a multivariable Cox proportional hazards model, risks for AUD and MD in 1,244,516 individuals born in Sweden from 1970 to 1990 to intact mother–father pairs as a function of parental diagnoses of MD
Kenneth S. Kendler, Linda Abrahamsson, Jan Sundquist, Kristina Sundquist   +3 more
wiley   +1 more source

Characterization of Constitutional Ring Chromosomes over 37 Years of Experience at a Single-Site Institution. [PDF]

Genes (Basel)
Murry JB, DuPont BR.
europepmc   +1 more source