Results 81 to 90 of about 66,455 (315)

Atypical Clinical Course of Griscelli Syndrome Type 2 With Primarily Neurologic Presentation and Adult‐Onset in a 46‐Year‐Old Male

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Griscelli Syndrome Type 2 (GS2) is a rare autosomal recessive disorder caused by pathogenic mutations in the RAB27A gene. Typically, it is characterized by cutaneous hypopigmentation, immunodeficiency, with or without neurological abnormalities secondary to hemophagocytic lymphohistiocytosis (HLH). Without treatment, GS2 often results in fatal
Dzhoy Papingi, Michael Kutsche, Helena Lichtenfeld, Fanny Kortüm, Angela Abicht, Laura Herrmann, Theresia Herget   +6 more
wiley   +1 more source

A Profile of Fatherhood Among Young Men: Moving Away from Their Birth Family and Closer to Their Child. [PDF]

Have things changed all that much in terms of how fatherhood is conceptualized and exercised in daily life? That is the question underlying this article. The author compares the findings of a recent analysis on certain aspects of the lived experiences of
Anne Qu�niart
core  

Challenging Behaviors in Young Children: The Father\u27s Role [PDF]

, 2004
In this study, the authors examined the parenting practices, developmental expectations, and stress levels of 136 fathers and the challenging and prosocial behaviors of their 1- to 5-year-old children.
Burbach, Ann D, Fox, Robert A., Nicholson, Bonnie C   +2 more
core   +1 more source

De Novo Complex Genomic Rearrangement Spanning 2q31.1 in a Proband With Congenital Malformations: Genotype–Phenotype Correlation and Development of a CGR Detection Pipeline

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The 2q31 region is commonly associated with pathogenic alleles of the HOXD cluster leading to various clinical phenotypes related to skeletal development. We present a proband with tetralogy of Fallot and multiple congenital anomalies. Genomic variant screening including an in‐house CGR detection pipeline pairing genome sequencing (GS ...
Katherine Helle, Jesse D. Bengtsson, Mira Gandhi, Christopher M. Grochowski, Ming Yin Lun, Neha Sudhir, Shalini N. Jhangiani, Fritz J. Sedlazeck, Seema R. Lalani, Neil A. Hanchard, Claudia M. B. Carvalho   +10 more
wiley   +1 more source

FATHERS’ RELIGIOUS INVOLVEMENT AND EARLY CHILDHOOD BEHAVIOR [PDF]

Previous research suggests that many men increase their religious involvement after the birth of a new child. This study extends this research by examining whether fathers maintain a higher rate of religious participation as children get older and how ...
Richard J. Petts
core  

Tom Wingfield's Alienation in Tennessee Williams' The Glass Menagerie: A Marxist Approach [PDF]

, 2017
Several distinguished philosophers such as Rousseau, Hegel, Feuerbach, Kierkegaard, Marx, Nietzsche, and Heidegger paid serious attention to the notion of alienation.
Behnam Mirzababazadeh Fomeshi
core   +2 more sources

Response of an Infant With Presumed Multiple Acyl‐CoA Dehydrogenase Deficiency (MADD) to Ketone Supplementation

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Multiple Acyl‐CoA Dehydrogenase Deficiency (MADD) is an autosomal recessive inborn error of metabolism caused by biallelic pathogenic variants in one of three known genes: ETFA, ETFB, and ETFDH. It can cause multisystem dysfunction, including cardiomyopathy in severe cases.
Yutaka Furuta, Kaitlyn N. Bloom, Jerry Vockley, Angela R. Grochowsky, Neena S. Agrawal, Ellen W. Strickler, Natalie N. Owen, Erica T. Gray, B. Lakshitha A. Perera, Eric R. Gamazon, Lynette C. Rives, Hua‐Chang Chen, Qi Liu, Rizwan Hamid, Joy D. Cogan, John A. Phillips III, Thomas A. Cassini, Bryce A. Schuler   +17 more
wiley   +1 more source

Predicting father involvement: A hierarchical regression analysis of fathers’ age and fathering self-efficacy [PDF]

SHS Web of Conferences
Father involvement helps children aged 0-5 years regulate their emotions and reduce the risk of later behavioral problems. Nevertheless, a survey by Badan Pusat Statistik (BPS) in 2021 indicated the low level of father involvement in child rearing ...
Sukron Muhammad Ikbal Wahyu, Rangkuti Anna A., Mufidah Atikah Ainun, Fauzia Jimny Hilda, Afifah Khairunnisa Maisun   +4 more
doaj   +1 more source

Defining Features of Gabriele‐de Vries Syndrome in Adults: A Case Report and Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Gabriele‐de Vries syndrome (GADEVS) is a neurodevelopmental disorder caused by heterozygous pathogenic variants in the YY1 gene. Like most rare genetic syndromes, the adult manifestations of GADEVS remain poorly defined. Here, we describe the oldest patient reported to date with GADEVS—a 63‐year‐old woman with a c.1177_1179del YY1 variant ...
Ethan W. Hollingsworth, Changrui Xiao
wiley   +1 more source

SELF-HARM BEHAVIOR AMONG TEENAGER AND FATHER’S INVOLVEMENT IN PARENTING: A CROSS-SECTIONAL STUDY

Journal of Community Mental Health and Public Policy
Background: A meta-analysis conducted in 2019 reported that 22.1% of individuals engaged in self-harming behaviors, with 17% of these cases occurring among adolescents.
Zata Ismah, Haryanti Sinaga, Dwi Despiana   +2 more
doaj   +1 more source