Results 151 to 160 of about 3,414,711 (270)

Genome‐wide association and interaction analysis for proliferative retinopathy in adults with type 2 diabetes born during famine: The DOLCE study in Ukraine

Acta Ophthalmologica, EarlyView.
Abstract Purpose Proliferative diabetic retinopathy (PDR) is one of the leading causes of blindness in working‐age adults. We have previously shown that the risk of PDR is significantly elevated in individuals with intrauterine exposure to famine. However, the genetic mechanisms mediating this association remain unknown.
Olena Fedotkina, Most Champa Begum, Xuan Tung Trinh, Turkuler Özgumus, Mikael Åkerlund, Peter Nilsson, Leticia Maria Spindola, Valeriya Lyssenko   +7 more
wiley   +1 more source

Lithic analysis in African archaeology: Advances and key themes

Archaeometry, EarlyView.
Abstract Stone artifacts (lithics) preserve for extended periods; thus they are key evidence for probing the evolution of human technological behaviors. Africa boasts the oldest record of stone artifacts, spanning 3.3 Ma, rare instances of ethnographic stone tool‐making, and stone tool archives from diverse ecological settings, making it an anchor for ...
Deborah I. Olszewski, Amanuel Beyin, Justin Pargeter   +2 more
wiley   +1 more source

Hereditary Persistence of Alpha-Fetoprotein and Safe Application of Growth Hormone in Familial Short Stature: A Case Report. [PDF]

Am J Case Rep
Guo S, Zhang J, Chen Q, Yu Y, Ma H.
europepmc   +1 more source

Pubertal Dynamics of Sertoli and Leydig Cell Dysfunction in Klinefelter Syndrome

Clinical Endocrinology, EarlyView.
ABSTRACT Context Klinefelter syndrome (KS), defined by a 47, XXY karyotype, is commonly associated with progressive testicular failure. The precise timing of Sertoli and Leydig cell dysfunction during puberty remains unclear. Objective To determine the onset and progression of testicular insufficiency during puberty in KS, and to assess whether ...
Tredez Axelle, Christine Lefevre, Simon Boussion, Cindy Colson, Iva Gueorguieva, Francois Marcelli, Anne Laure Barbotin, Pascal Pigny, Hamza Benderradji, Clara Leroy   +9 more
wiley   +1 more source

Parent-Reported Psychological Adjustment and Health-Related Quality of Life in Children with Growth Hormone Deficiency Before and After Six-Month Recombinant Growth Hormone Treatment, in Age-Matched Children with Familial Short Stature and in Normal-Statured Children. [PDF]

J Clin Med
Guerrini Usubini A, Marazzi N, Abbruzzese L, Castelnuovo G, Sartorio A.   +4 more
europepmc   +1 more source

Diagnostic Yield of Brain MRI in Pediatric Short Stature: Hypothalamic–Pituitary Lesions and Incidental Findings in Real‐World Practice

Clinical Endocrinology, EarlyView.
ABSTRACT Background Brain MRI is widely performed in children with short stature or suspected growth hormone deficiency(GHD) to exclude hypothalamic–pituitary (HP) pathology, yet its diagnostic yield in routine practice is uncertain. We aimed to evaluate the prevalence, clinical significance, and distribution of HP and extrahypothalamic abnormalities ...
Mustafa Zubeidat, Tamer Sobeh, Shai Shrot   +2 more
wiley   +1 more source

Two cases of autosomal dominant familial short stature associated with <i>COL11A2</i> gene variant and the therapeutic response to recombinant human growth hormone. [PDF]

Transl Pediatr
Bao P, Jiang L, Liu G, Li Y, Chen X, Wang M.   +5 more
europepmc   +1 more source

STATure Volume 4

STATure is a non-peer reviewed journal for scientific manuscripts that were created by students enrolled in LifeSci 3LX3 (Biostatistics and Scientific Writing)
LifeSci 3LX3
core  

A New Case of Lethal Congenital Contracture Syndrome Type 3 With Hyperinsulinism and Optic Atrophy

Clinical Genetics, EarlyView.
PIP5K1C‐related lethal congenital contracture syndrome with hyperinsulinism and optic atrophy. ABSTRACT Lethal congenital contracture syndrome 3 (LCCS3, MIM #611369) is a rare autosomal recessive neuromuscular disorder caused by biallelic loss‐of‐function (LOF) variants in PIP5K1C, reported in only two families to date.
Tameemi Abdalla Moady, Hadar Hulin Ma'ayan, Michal Cohen, Karin Weiss   +3 more
wiley   +1 more source

Variants in the Imprinted IGF2 Gene: A Review and Phasing of De Novo Variants Using Long‐Read Sequencing

Clinical Genetics, EarlyView.
Pathogenic IGF2 variants on the paternal allele can cause Silver–Russell syndrome, with highly variable growth and neurodevelopmental outcomes. Long‐read sequencing can determine the parental origin of de novo IGF2 variants via methylation patterns without parental samples, improving diagnostics for imprinted genes.
Trine Maxel Juul, Susanne Eriksen Boonen, Katja Venborg Pedersen, Caroline Hey Bækgaard, Martin Larsen, Maria Kibæk, Niels Illum, Malene Heideman, Christiane Nielsen, Emilie Boye Lester, Christina Fagerberg   +10 more
wiley   +1 more source