Results 101 to 110 of about 76,750 (219)
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 +9 more
wiley +1 more source
Acta Médica Costarricense, 2009 Justificación y objetivos: En Costa Rica, el diagnóstico de anomalías cromosómicas fetales se realiza solo mediante el análisis citogenético convencional de cromosomas obtenidos de cultivos celulares.
Wendy Malespín-Bendaña +2 more
doaj
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 +3 more
wiley +1 more source
Trisomy 21 and trisomy 18 in half-siblings
, 1975 Trisomy 18 was detected ante-natally in a woman who had a trisomy 21 offspring in a previous marriage. It is possible that in some women there is a predisposition to nondisjunction.
Jones, A. J. +2 more
core +1 more source
Clinical and genetic characterization of intellectual disability
Developmental Medicine &Child Neurology, EarlyView.This study examines the etiological factors and comorbidities in a large cohort of Finnish patients with intellectual disability. Genetic causes—including chromosomal abnormalities and pathogenic gene variants—were more frequently identified in individuals with moderate to profound intellectual disability.
Aarni Venetvaara +14 more
wiley +1 more source
Concurrent validity and agreement of Bayley‐4, AIMS, and HINE assessments in 1‐year‐old children
Developmental Medicine &Child Neurology, EarlyView.In this cross‐sectional study of children around 1‐year‐old, the Bayley‐4 showed concurrent validity and moderate to substantial agreement with the AIMS and the HINE in both clinical and home settings. Abstract Aim To examine concurrent validity between the Bayley Scales of Infant and Toddler Development, Fourth Edition (Bayley‐4) gross motor subtest ...
Weiyang Deng +14 more
wiley +1 more source
Cutaneous involvement by myeloid leukaemias: challenging cases with important implications
Histopathology, EarlyView.Myeloid leukaemias and precursors involving the skin are often challenging to diagnose with varied and overlapping clinical and histopathologic features. Nonetheless, they are critical for pathologists to recognize and accurately classify. This review discusses the clinical, histopathological and genetic features of myelodysplasia cutis (A) and ...
Alexandra C. Hristov
wiley +1 more source
International Journal of Dental Hygiene, EarlyView.ABSTRACT Objectives This study aimed to investigate the relationship between functional independence, oral hygiene habits and periodontal status in patients with Down syndrome (DS). Methods A cross‐sectional observational study was conducted with 49 patients with Down Syndrome. Sociodemographic data, oral hygiene habits and functional independence were
Joana Albuquerque Bastos de Sousa +6 more
wiley +1 more source
Prenatal sonographic features of fetuses in trisomy 13 pregnancies (I)
, 2012 [[abstract]]Prenatal ultrasound is a powerful tool for detecting structural abnormalities in fetuses in trisomy 13 pregnancies. This article provides a comprehensive review of the prenatal sonographic features of trisomy 13, including the major ...
陳持平;Chen, Chih-Ping
core