Results 181 to 190 of about 62,580 (283)

35 Individuals With HUWE1‐Related Neurodevelopmental Disorder and Suggested Clinical Evaluations

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT HUWE1 (HECT, UBA, and WWE Domain Containing E3 Ubiquitin Protein Ligase1, OMIM 300697), located at Xp11.22, encodes a ubiquitin ligase that is highly conserved across species. Genetic variants in HUWE1 described in multiple independent studies cause X‐linked intellectual disability, including in the patients identified by Juberg, Marsidi, and ...
Mindy H. Li, Deziree L. Coleman, Kelsey Hogan, Danielle Luz, Lindsay Bhandari, Newell Belnap, Tiffany Busa, Charles Coutton, Klaus Dieterich, Svetlana Gorokhova, Clara Hildebrandt, Rachel Logan, Milena Mariani, Manuela Morleo, Vincenzo Nigro, John Pappas, Rachel Rabin, Kelly Schoch, Angelo Selicorni, Vandana Shashi, Rebecca Spillmann, Jennifer Sullivan, Charlotte Tardy, Samantha A. Schrier Vergano, Brock Grill, Kristin Baranano   +25 more
wiley   +1 more source

Gender Divisions of Domestic Labour During the COVID-19 Pandemic in Canada: Did Increases in Father Involvement Persist Through Later Stages? [PDF]

Can Rev Sociol
Fuller S, Cai M, Doucet A, Qin S.
europepmc   +1 more source

Effectiveness of a 24/7 Dad® Curriculum in Improving Father Involvement: Profiles of Engagement. [PDF]

Int J MCH AIDS, 2020
Wilson RE, Obure R, Omokaro P, Salihu HM, Berry EL, Austin DA, Christner JG.   +6 more
europepmc   +1 more source

Father Involvement in Intact Families and Stepfamilies

, 2007
Father involvement was examined multidimensionally using fathers' and children's reports. A total of 61 fathers and 143 children (intact families and stepfather families) from the Avon Brothers and Sisters Study (ABSS) participated in the current study ...
Glover, Marshaun Benjamin
core  

Biallelic Germline Inactivation of HROB Causes Primary Gonadal Insufficiency and is Potentially Associated with Colonic Polyposis Predisposition

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The Homologous Recombination Factor With OB‐Fold (HROB) plays a role in homologous recombination and DNA replication, where it enhances the MCM8‐MCM9 helicase complex activity. Recent findings link biallelic germline HROB variants to primary gonadal insufficiency (hypergonadotropic hypogonadism), a phenotype also associated with MCM8/MCM9 ...
Noah C. Helderman, Carli M. Tops, Jelmer Legebeke, Ting Yang, Marcos Díaz Gay, Diantha Terlouw, Lisa E. E. L. O. Lashley, Stefan Aretz, Anna K. Sommer, Mariona Terradas, Laura Valle, Richarda M. de Voer, Ludmil B. Alexandrov, Hans Morreau, Tom van Wezel, Maartje Nielsen   +15 more
wiley   +1 more source

Father Involvement in Pregnancy and Postnatal Care: Combined Perspectives of Fathers, Mothers, and Service Providers. [PDF]

Nurs Health Sci
Small A, Kavanagh SA, Macdonald JA, Di Manno L, Wynter K.   +4 more
europepmc   +1 more source

m.10010T>C Mitochondrial Disease: A Case Report With Hypoparathyroidism and Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Mitochondria are essential intracellular organelles that play a critical role in cellular metabolism, including the regulation of intracellular calcium signaling. Advances in genomic sequencing have facilitated the identification of rare pathogenic mitochondrial DNA (mtDNA) genetic variants in patients with unexplained endocrine disorders.
Jacob Mohr, Anja Lisbeth Frederiksen, Morten Duno, Anne Pernille Hermann, Trine Maxel Juul, Simone Rask Nielsen   +5 more
wiley   +1 more source

Conflict and Father Involvement: The Unique Role of Postpartum Destructiveness for Fathers' Direct Care in Toddlerhood. [PDF]

Fam Process
Murray-Perdue SA, Rayburn S, Wang L, Cummings EM, Braungart-Rieker JM.   +4 more
europepmc   +1 more source

Father Involvement in Early Childhood Care: Insights From a MEL System in a Behavior Change Intervention Among Rural Indian Parents. [PDF]

Front Public Health, 2020
Nair S, Chandramohan S, Sundaravathanam N, Rajasekaran AB, Sekhar R.   +4 more
europepmc   +1 more source

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