Results 61 to 70 of about 14,270 (287)

Genomic Contributors to Congenital Diaphragmatic Hernia: Results of Exome Sequencing in 560 Probands and Cross Reference of Findings in an Independent Cohort

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT There is a strong genetic contribution to the etiology of congenital diaphragmatic hernia (CDH). This study evaluated genetic testing results and diagnostic yield for fetuses and children with CDH. This was a retrospective cohort study of exome sequencing (ES) performed at GeneDx for fetuses and children ≤ 18 years of age with CDH compared ...
Justin Blair, Kevin Carratu, Natalie E. Rintoul, Holly L. Hedrick, William H. Peranteau, Catherine M. Avitabile, Kirsty McWalter, Paul Kruszka, Ian D. Krantz, K. Taylor Wild   +9 more
wiley   +1 more source

The phenomenon of absent fatherhood: Perceptions, experiences and challenges of absent fathers and adolescent children

, 2023
Magister Artium (Child and Family Studies) - MA(CFS)The escalating statistics of children who are growing up without the involvement of their fathers is a serious social problem not only in South Africa but globally.
Moila, Witness
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

Recommendations to the Fatherhood Advisory Council from the Fatherhood Initiative Interagency Workgroup.

, 2002
Title from caption.; "September 9, 2002.
Connecticut. Fatherhood Initiative Interagency Workgroup.
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Long‐Term Follow Up of Two Patients With Variants in the Cluster 1031‐1159 of TRRAP Gene: Expanding the Phenotype of Developmental Delay With or Without Dysmorphic Facies and Autism

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The transformation/transcription domain‐associated protein (TRRAP) gene encodes a large multidomain protein, a member of the phosphatidylinositol 3‐kinase‐related kinase (PIKK) family. TRRAP is a component of the histone acetyltransferase (HAT) complex, and it plays an important role in gene transcription, DNA repair, and cell‐cycle regulation.
Roseli Maria Zechi‐Ceide, Vinicius Contrucci Dantas Segarra, Siulan Vendramini‐Pittoli, Henrique Regonaschi Serigatto, Luiza Virmond, Heloisa Marcelina da Cunha Palhares, Fernanda Jehee, Ana Cristina Victorino Krepischi, Carla Rosenberg, Carlos Henrique Paiva Grangeiro, Nancy Mizue Kokitsu‐Nakata   +10 more
wiley   +1 more source

Other title: Connecticut's inventory of services to promote fatherhood and support families

, 2001
Cover title.; "Teach·Love·Inspire, Fatherhood Initiative of Connecticut"--Letter of transmittal.; "June 2001"--Letter of ...

core  

Diagnostic Odyssey of Atypical Long‐Chain 3‐Hydroxyacyl‐CoA Dehydrogenase Deficiency (LCHADD) Explained by Three Allelic Products From Two Pathogenic Variants

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Long‐chain 3‐hydroxyacyl‐CoA dehydrogenase deficiency (LCHADD) is an autosomal recessive mitochondrial defect of long‐chain fatty acid β‐oxidation, caused by biallelic pathogenic variants in HADHA or HADHB. We report a 22‐year‐old male with an atypically mild presentation of LCHADD who was referred to the Undiagnosed Diseases Network (UDN ...
Yutaka Furuta, Lynette C. Rives, T. Andrew Burrow, Thomas A. Cassini, Rory J. Tinker, Amy K. Robertson, Kimberly M. Ezell, Rizwan Hamid, Joy D. Cogan, John A. Phillips III   +9 more
wiley   +1 more source

Exploring the lived experiences of a sample of South African fathers who had a premature baby [PDF]

, 2021
Magister Artium (Psychology) - MA(Psych)Fatherhood and masculinity have been studied globally, and these constructs are used to make sense of a variety of realities of men. In South Africa, traditional constructions of fatherhood and masculinity persist.
Nell, Jonathan
core   +1 more source

Child Support Compliance in Fatherhood Programs: The Role of Hope, Role Salience, and Parenting Skills

Journal of Human Sciences and Extension, 2019
Non-resident fathers’ compliance with child support agreements is low. An estimated 50% of fathers never pay any formal support to their co-parents (Stykes, Manning, & Brown, 2013). Responsible fatherhood programs have been developed as an alternative to
Alexander E. Chan, Francesca Adler-Baeder   +1 more
doaj   +1 more source

Masculinities and fatherhood in a South African context: exploring Xhosa men's experiences of fatherhood and ideas about masculinities

, 2013
This is a qualitative study that explores meanings around fatherhood among Xhosa fathers in Cape Town. In so doing, the dissertation goes on to explore attitudes, beliefs, and needs of these township fathers have with regards to taking care of their ...
Bongwana, Thembelihle
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