Results 71 to 80 of about 85,861,786 (250)

Genotype–Phenotype Correlations of Monoallelic PFIC Variants in Pediatric Liver Disease: A Multicenter Retrospective Cohort Study

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Progressive familial intrahepatic cholestasis (PFIC) is classically caused by biallelic pathogenic variants, yet monoallelic variants of uncertain significance (VUS) in PFIC‐associated genes are increasingly identified in children with cholestasis, creating diagnostic uncertainty.
Brett J. Hoskins, Tiziano Pramparo, Chaowapong Jarasvaraparn, Michael J. Wilsey, Voytek Slowik, Lakshmi Kunam, Janis M. Stoll, Ruben E. Quiros‐Tejeira, Simon Lam, Wikrom Karnsakul   +9 more
wiley   +1 more source

Human placental growth hormone is increased in maternal serum at 20 weeks of gestation in pregnancies with large-for-gestational-age babies

, 2016
To investigate the relationship between maternal serum concentrations of placental growth hormone (GH-V), insulin-like growth factor (IGF)-1 and 2, IGF binding proteins (IGFBP)-1 and 3 and birth weight in appropriate-for-gestational-age (AGA), large-for ...
Beatrix Jones (3696325), Mark H. Vickers (6899263), Shutan Liao (3696328), Jo K. Perry (3696319), Rennae S. Taylor (7739246), Mhoyra Fraser (3696322), Lesley M. E. McCowan (7710743), Philip N. Baker (338976), Taylor, RS, Vickers, Mark H., Liao, S, Jones, Beatrix, Perry, Jo K., Baker, PN, McCowan, LME, Jones, B, Vickers, MH, Fraser, M, Taylor, Rennae S., Liao, Shutan, Fraser, Mhoyra, Perry, JK, Baker, Philip N., McCowan, Lesley M.E.   +23 more
core   +1 more source

High Diagnosis Rate for Nonimmune Hydrops Fetalis With Prenatal Clinical Genome: Expanded Results From the Hydrops‐Yielding Diagnostic Results of Prenatal Sequencing (HYDROPS) Study

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Nonimmune hydrops fetalis (NIHF) is characterized by abnormal fluid accumulation in ≥ 2 fetal compartments and may be genetic. The incremental diagnostic yield of prenatal exome sequencing (ES) for NIHF following a negative standard workup was previously explored on 22 cases.
Stephanie M. Rice, Mona M. Makhamreh, Sascha Wodoslawsky, Mariella Toro, Elizabeth Critchlow, Brandy Firman, Ruby Liu, Babi Ramesh Nallamilli, Madhuri Hegde, Seth I. Berger, Huda B. Al‐Kouatly   +10 more
wiley   +1 more source

Comparative analysis of risk factors and severity of retinopathy of prematurity in appropriate for gestational age vs small for gestational age preterm infants [PDF]

Journal of Krishna Institute of Medical Sciences University
Background: Retinopathy of Prematurity (ROP) is a leading cause of childhood blindness worldwide, with a growing burden in developing countries. Aim and Objectives: To examine risk factors associated with ROP in preterm infants, assess disease severity,
Arya Wagle, Chandni Gupta, Sulatha V Bhandary, Leslie Edward S Lewis   +3 more
doaj  

Postnatal growth in children born small and appropriate for gestational age during the first years of life [PDF]

, 2008
The aim of the study was to evaluate growth pattern of small- and appropriate-for-gestationalage children and to identify prenatal and postnatal risk factors for short stature and development of components of metabolic syndrome. A total of 109 small- and
Verkauskienė, Rasa, Lašas, Liudvikas, Rasa Verkauskienė, Liudvikas Lašas, Kryžiūtė, Dovilė, Agnė Danylaitė, Giedrė Ramanauskaitė, Danylaitė, Agnė, Danutė Lašienė, Dovilė Kryžiūtė, Margarita Valūnienė, Ramanauskaitė, Giedrė, Valūnienė, Margarita, Lašienė, Danutė Teresė   +13 more
core   +1 more source

A Rare Form of Microcephalic Primordial Dwarfism due to NSMCE2 Deficiency (Seckel Syndrome Type 10): A Report of Macular Involvement

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Biallelic variants in NSMCE2 (MMS21), which encodes the SUMO E3 ligase subunit of the SMC5/6 chromatin‐maintenance complex, have recently been implicated in microcephalic primordial dwarfism (MPD), corresponding to Seckel syndrome type 10 (OMIM #617246).
Cristina Peduto, Céline Huber, Clément Paya, Isabelle Audo, Nathalie Boddaert, Valérie Cormier‐Daire   +5 more
wiley   +1 more source

Comparison of bone age in small-for-gestationalage children vs appropriate-for-getational-age children

, 2010
BackgroundAbout 10-15% small-for-gestational-age children are in higher risk for having linear growth retardation due to growth hormone-insulin like growth factor 1 axis defect (GH-IGF 1) which causes bone age delay.ObjectivesTo compare bone age in 24-36
Lionardus Edward, Sjarif Hidajat Effendi, Djatnika Setiabudi   +2 more
core   +1 more source

Delayed Recognition of Maternal G6PD Heterozygous Status Across Prenatal and Newborn Care Interfaces

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Glucose‐6‐phosphate dehydrogenase (G6PD) deficiency is the most common red blood cell enzymatic disorder worldwide. Although many heterozygotes are asymptomatic, affected neonates have an increased risk for hyperbilirubinemia and related complications.
Mona M. Makhamreh, Ramiah R. Vickers, Cheryl Mensah, Wanda Dosal, Jennifer R. McKinney, April D. Adams   +5 more
wiley   +1 more source

ADNP‐Related Helsmoortel–Van der Aa Syndrome: A Review of the Literature and Clinical Recommendations for Assessment and Monitoring

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT ADNP‐related Helsmoortel–Van der Aa syndrome (ADNP‐related HVDAS) is a single gene form of autism spectrum disorder (ASD) caused by pathogenic sequence variants in the activity‐dependent neuroprotective protein (ADNP) gene. In addition to ASD, ADNP‐related HVDAS is associated with a wide range of cognitive, behavioral, and physical health ...
Jarrett Fastman, Ana Kolevzon, Paige Siper, Tess Levy, Jeffrey M. Saland, Yitzchak Frank, Robert Rapaport, Kayla Kupietzky, William E. Bennett Jr, Bruce Gelb, Sandra Bedrosian Sermone, Alexander Kolevzon   +11 more
wiley   +1 more source

Birth weight discordance and adverse neonatal outcomes in appropriately grown premature twins

Heliyon
Objective: This study aimed to analyze the clinical characteristics of birth weight discordant twins (BWDT) who were premature and appropriate-for-gestational-age or large-for-gestational-age.
Ling Yang, Yan Zhou, Jie Qiu, Nacheng Lin, Ning Gu, Yimin Dai   +5 more
doaj   +1 more source