Results 171 to 180 of about 3,413,614 (250)

Brachydactyly Type A1 Caused by an <i>IHH</i> Variant in a Patient with Disproportionate Short Stature: A Case Report. [PDF]

Reports (MDPI)
García de Pablo I, Ontoria Betancort MC, Martínez Bugallo F, Martín Pérez SE, Martín Pérez IM.   +4 more
europepmc   +1 more source

Sleep Disorders in Klinefelter Syndrome and Other Sex Chromosome Aneuploidies: A Narrative Review

Andrology, EarlyView.
ABSTRACT Background Sex chromosome aneuploidies (SCAs) are among the most frequent types of chromosomal aneuploidies and include Klinefelter syndrome (47,XXY and higher‐grade variants), 47,XYY syndrome, Turner syndrome (45,X), and trisomy X (47,XXX).
Roberto Paparella, Fabiola Panvino, Ida Pucarelli, Luigi Tarani   +3 more
wiley   +1 more source

Submicroscopic 16q24.2-q24.3 deletion in a family with nonsyndromic short stature. [PDF]

Hum Genome Var
Narita C, Utsunomiya H, Hamada J, Kageyama I, Fukami M, Nakamura A.   +5 more
europepmc   +1 more source

Snapshots from a Fast‐Moving Train: Religious History 1960–2025

Journal of Religious History, EarlyView.
Alexandra Walsham
wiley   +1 more source

Bone Health and Aging in Klinefelter Syndrome

Andrology, EarlyView.
ABSTRACT Klinefelter syndrome (KS) is typically diagnosed in young adults, but advances in prenatal testing have led to its recognition at a much earlier age. Conversely, diagnosis in late adulthood remains uncommon, but still occurs. Independently from the age at diagnosis, KS individuals now receive more accurate and tailored care management than in ...
Filippo Vignali, Daniele Renda Livraghi, Francesco Costantino, Sara De Vincentis, Vincenzo Rochira   +4 more
wiley   +1 more source

Endocrine Phenotype and GH1 Sequence Variation in Children with Short Stature: Five-Year Growth Outcomes of Growth Hormone Therapy. [PDF]

Genes (Basel)
Albayrak S, Karaoglan M, Yildirim A, Keskin M.   +3 more
europepmc   +1 more source

The Need for a Global Registry for Charting the Natural History of Klinefelter Syndrome

Andrology, EarlyView.
ABSTRACT Background Although Klinefelter Syndrome (KS) represents the most common sex chromosome aneuploidy, several gaps in knowledge persist regarding optimal management of individuals with this condition. Individuals with KS can have a diverse phenotype including endocrine, neurodevelopmental, and cardiovascular manifestations.
Malika Alimussina, Joseph McElvaney, Corinna Grasemann, Jillian Bryce, Lise Aksglaede, Claudia Boettcher, Lexi Breen, Francesco Carlomagno, Sabine Hannema, Andrea M. Isidori, Inas Mazen, Anna Nordenstrom, S. Faisal Ahmed, Angela K. Lucas‐Herald   +13 more
wiley   +1 more source

Population characteristics of children with short stature and construction of a predictive model for growth hormone treatment efficacy. [PDF]

Front Med (Lausanne)
Ban C, Wang J, Zeng Q, Liu P, Lv X.
europepmc   +1 more source

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

Beyond a single diagnosis: coexisting <i>PAPSS2</i> brachyolmia and growth hormone deficiency in a child with short stature. [PDF]

JCEM Case Rep
Fu A.
europepmc   +1 more source