Results 121 to 130 of about 9,182 (302)

Differentiating the Clinical and Variant Spectrum of Hardikar Syndrome From Other MED12‐Related Developmental Disorders

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The rare X‐linked female‐restricted Hardikar syndrome (HDKR, OMIM # 301068) is characterized by multiple congenital anomalies including orofacial clefts, gastrointestinal, genitourinary, and cardiac anomalies, but cognitive and neurobehavioral development is rarely impaired.
Tinne Warmoeskerken, Miel Theunis, Kris Van den Bogaert, Koenraad Devriendt, Jeroen Breckpot   +4 more
wiley   +1 more source

The Relationship Between Husband’s Support and Coping with the Occurrence of Baby Blues Syndrome in Postpartum Mothers

Ahmar Metastasis Health Journal
"Baby blues syndrome" refers to the symptoms of postpartum depression experienced by new mothers. The severity of postpartum depression is often exacerbated by the absence of a loving and supportive partner. The purpose of this study was to determine The
Yulia Rohmah, Widya Lita Fitrianur, Diah Fauzia Zuhroh, Diah Jerita Eka Sari   +3 more
doaj   +1 more source

Hubungan Antara Usia dan Paritas dengan Kejadian Baby Blues Syndrome [PDF]

, 2018
ASSOCIATION BETWEEN AGE AND PARIETY IN BABY BLUES SYNDROME INCIDENT Ilham Paramasatya, Supanji Raharja. Faculty of Medicine, Muhammadiyah Surakarta University Background: Labor is an event that can affect emotional condition especially in a mother.
, Dr. Supanji Raharja, Sp.OG (K), Paramasatya, Ilham   +1 more
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Combined Long‐Read Genome and Transcriptome Sequencing Establishes Novel Variants in MEGF8 as the Cause for Carpenter Syndrome Type 2

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Carpenter syndrome type 2 (CRPT2) is a rare autosomal recessive disease mainly characterized by craniosynostosis and polysyndactyly. CRPT2 is the rarer subtype of Carpenter syndrome (CRPTS) and is caused by biallelic variants in the multiple epidermal growth factor‐like domains 8 gene (MEGF8).
Kiana Rashidi, Bhavi P. Modi, Phillip A. Richmond, Massimo Mangino, Loryn Byres, Cassie McDonald, Joshua Dalmann, Simran Samra, Kate L. Del Bel, Anna Lehman, Jessica L. Zambonin, Stuart E. Turvey   +11 more
wiley   +1 more source

Mekanisme Koping Ibu yang Mengalami Postpartum Blues [PDF]

, 2014
Postpartum blues arises when a mother failed to accept their condition caused of pregnancy, pregnancy process ,delivery and post partum. This research is highly essential since postpartum blues which is known as a form of a light depression,can develop ...
-, M. (Misrawati), Nurchayati, S. -. (Sofiana), Silalaen, S. -. (Silvrida)   +2 more
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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

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

A comparative study of frequency of postnatal depression among subjects with normal and caesarean deliveries [PDF]

, 2010
Background: Prevalence of postnatal depression (PND) is 12-15%. Recent studies are equivocal about the earlier inference that PND is higher among caesarian than normal delivery.
Bhat, SU, Nagaraj, AKM, Nagaraja, V, Raveesh, BN, Sankapithilu, GJ   +4 more
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Gorab deficiency in skin dermis accelerates aging and is associated with dysregulation of RCHY1‐mediated P53 ubiquitination

Animal Models and Experimental Medicine, EarlyView.
Based on a dermis fibroblast Gorab knockout mouse model, this study revealed that Gorab deficiency promotes skin aging by influencing RCHY1, causing a decrease in P53 ubiquitination, damaging the activity of HDAC2, further resulting in the accumulation of aging‐related proteins (P53, P21, P16) and a reduction in extracellular matrix (ECM) components ...
Yanhong Li, Wei Liang, Yanfeng Xu, Yunlin Han, Wenjie Zhao, Siyuan Wang, Wei Deng, Chuan Qin   +7 more
wiley   +1 more source

Trabecular bone ontogeny of the human talus

The Anatomical Record, EarlyView.
Abstract Studies of trabecular ontogeny may provide insight into the factors that drive healthy bone development. There is a growing understanding of how the juvenile skeleton responds to these influences; however, gaps in our knowledge remain. This study aims to identify ontogenetic trabecular patterns and regional changes during development within ...
Rebecca A. G. Reid, Catriona Davies, Craig Cunningham   +2 more
wiley   +1 more source