Results 221 to 230 of about 758,578 (355)

Association Between Gene Polymorphisms of RSPO2 of the Wnt Signaling Pathway and Schizophrenia in the Korean Population. [PDF]

Psychiatry Investig
Lee AR, Park HJ, Kang WS, Kim JW.
europepmc   +1 more source

Rüdin's Unpublished Family Study From the Early 1920s: “On the Inheritance of Manic‐Depressive Insanity”

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Ernst Rüdin, an important and controversial figure in the history of psychiatric genetics, published only one major empirical study on siblings of dementia praecox (DP) probands in 1916. He conducted a parallel study of siblings of probands with manic‐depressive insanity (MDI), but the resulting monograph, written in the early 1920s, was left ...
Kenneth S. Kendler, Astrid Klee
wiley   +1 more source

Metabolic gene polymorphisms and type 2 diabetes mellitus risk: A systematic review and meta-analyses. [PDF]

Exp Ther Med
Indarto D, Susilawati TN, Suselo YH, Rejeki PS, Feng Y, Wibowo YC, Mahanani MR.   +6 more
europepmc   +1 more source

Polymorphisms in the MET/HGF Gene Complex are Associated with Severe Chronic Rhinosinusitis [PDF]

, 2009
Raimundo Castaño Calle, Léandra Mfuna Endam, Abdelali Filali Mouhim, Yohan Bossé, Martin Desrosiers   +4 more
openalex   +1 more source

Schizophrenia Genetics Modulates Clinical Depressive Features

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Schizophrenia (SCZ) genetic liability, quantified by polygenic scores (PGS), may influence clinical phenotypes in major depressive disorder (MDD). We investigated the effect of the SCZ‐PGS derived from the latest SCZ genome‐wide association study (GWAS) on MDD symptom severity, comorbidities, and treatment outcomes.
Alessandro Serretti, Daniel Souery, Siegfried Kasper, Joseph Zohar, Stuart Montgomery, Panagiotis Ferentinos, Dan Rujescu, Raffaele Ferri, Giuseppe Fanelli, Chiara Fabbri, Raffaella Zanardi, Francesco Benedetti, Bernhard T. Baune, Julien Mendlewicz   +13 more
wiley   +1 more source

Association of GABRG2 gene polymorphisms with idiopathic generalized epilepsy in Egyptian children: a case-control study. [PDF]

Eur J Med Res
Wahba Y, Shahin D, El-Gilany AH, Yahia S, El-Tantawy N, Khodair M, Sherbiny H, Khalil H, Soheeb K.   +8 more
europepmc   +1 more source

An analysis of the relationship between ABCC8 and KCNJ11 gene polymorphisms and diabetic retinopathy in Turkish population

Ebru Alp, Sibel Doğuizi, Fadime Mutlu İçduygu, Egemen Akgün, Mehmet Ali Şekeroğlu, Murat Atabey Özer   +5 more
openalex   +2 more sources

Expanding the Genotype–Phenotype Correlation of Marden–Walker Syndrome due to PIEZO2 Gene Variants: A Case Report From Brazil

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Marden–Walker syndrome (MWS; OMIM 248700) is an extremely rare congenital disorder characterized by multiple joint contractures, craniofacial dysmorphism, neurological abnormalities, and multisystem involvement. Although historically diagnosed on clinical grounds, only a few cases have been molecularly confirmed.
Guilherme Sotto Battiston, Carolina de Souza Araujo, Fernanda Araujo Romera, André Luis Ferreira, Érica Trovisco Martins, Carolina Galhós de Aguiar, José Eduardo Mourão Santos, Rodrigo Ragazzini, Daniela Testoni Costa‐Nobre, Ana Claudia Yoshikumi Prestes, Allan Chiaratti de Oliveira, Eduardo Perrone, Débora Gusmão Melo, Anne Caroline Barbosa Teixeira, Antonio Victor Campos Coelho, Caio Robledo D’Angioli Costa Quaio, Carolina Araujo Moreno, Eduardo Perrone, Jose Bandeira do Nascimento Junior, Jessica Grasiela Araujo Espolaor, Joana Rosa Marques Prota, Joao Bosco de Oliveira Filho, Jose Ricardo Magliocco Ceroni, Kelin Chen, Letícia Torres Ferreira, Lucas Santos de Santana, Luciana Souto Mofatto, Luiza do Amaral Virmond, Marina de Franca Basto Silva, Michele Patricia Migliavacca, Renata Moldenhauer Minillo, Renata Yoshiko Yamada, Roberta Sitnik, Tatiana Ferreira de Almeida, Thiago Yoshinaga Tonholo Silva, Vivian Pedigone Cintra   +35 more
wiley   +1 more source

Gene polymorphisms associated with corneal curvature, astigmatism and its vector components in children. [PDF]

Eye Vis (Lond)
Zaabaar E, Shing E, Wang YY, Kam KW, Tam POS, Young AL, Tham CC, Pang CP, Yam JC, Chen LJ.   +9 more
europepmc   +1 more source

The Voice of Cantú: Lower Voice Pitch Is a New Phenotypic Feature of Cantú Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cantú syndrome (CS) is a rare genetic condition caused by pathogenic variants in either ABCC9 or KCNJ8, leading to gain‐of‐function of KATP‐channels. The main clinical features are hypertrichosis and cardiovascular abnormalities. This study investigates the voice characteristics in individuals with CS, an aspect that has received little ...
Lotte Kleinendorst, Melanie N. S. Molegraaf, Dorothy K. Grange, Rico N. P. M. Rinkel, Mieke M. van Haelst   +4 more
wiley   +1 more source