Results 81 to 90 of about 76,750 (219)
, 2015 Boxplot of IGF1R expression in: A) Trisomy 12 vs no trisomy 12 patients; and B) Trisomy 12 vs no trisomy 12 considering only IGHV-M patients.
Francesco Maura (207764) +22 more
core +1 more source
Andrology, EarlyView.ABSTRACT Background As sex chromosome trisomies (SCTs), including 47, XXX, 47, XXY, and 47, XYY, are associated with increased risk for neurodevelopmental challenges, studying SCTs may help in understanding the role of early parental caregiving in shaping neurodevelopmental phenotypes of this genetically at‐risk population.
Sophie van Rijn +4 more
wiley +1 more source
De Novo Partial Trisomy 14 and Extra Marker Chromosome in a Newborn Male with Charge Syndrome
, 2008 The characteristic phenotype of partial trisomy 14 includes growth and developmental retardation, microcephaly, distinctive facies and anomalies of the hands and feet.
SU, PEN-HUA;CHEN, MING;CHEN, JIA-YUH;CHEN, SUH-JEN;YU, JU-SHAN +1 more
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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 +3 more
wiley +1 more source
Andrology, EarlyView.ABSTRACT Sex chromosome aneuploidies represent a heterogeneous group of chromosomal conditions, in which phenotypic complexity generally increases with the number of supernumerary sex chromosomes. While Turner syndrome and sex chromosome trisomies are relatively well characterized, less is known about congenital malformations in sex chromosome ...
Anna Colding +3 more
wiley +1 more source
The role of ultrasound in women with a positive NIPT result for trisomy 18 and 13
Taiwanese Journal of Obstetrics & Gynecology, 2019 Objective: The aim of this study was to evaluate the usefulness of ultrasound in pregnancies with a positive non-invasive prenatal testing (NIPT) result for trisomy 18/13.
Li Zhen +3 more
doaj +1 more source
Andrology, EarlyView.ABSTRACT Background A large number of children have been born using testicular sperm from men with Klinefelter syndrome (KS), whereas reports of children conceived using ejaculated sperm are rare. Objective To review all published cases of children conceived using ejaculated sperm from men with KS, assess their health and karyotype, and evaluate ...
Jens Fedder, Freja Sørensen
wiley +1 more source
Acta Obstetricia et Gynecologica Scandinavica, EarlyView.Strength training during pregnancy safely improves maternal well‐being, increases physical activity, and reduces pregnancy symptoms, with a promising trend toward lower gestational diabetes. Abstract Introduction Evidence suggests that physical exercise may help prevent gestational diabetes mellitus, although available clinical trials are limited by ...
Teresa E. Santa Cruz +3 more
wiley +1 more source
Prenatal diagnosis and genetic counseling of mosaic trisomy 13
, 2012 [[abstract]]Counseling parents of a fetus with trisomy 13 mosaicism remains difficult because of the phenotypic variability associated with the condition; some patients exhibit the typical phenotype of complete trisomy 13 with neonatal death, while ...
陳持平;Chen, Chih-Ping
core
Acta Obstetricia et Gynecologica Scandinavica, EarlyView.We found a close correlation between thelarche and internal genital maturation on pelvic ultrasound, paralleling Tanner breast stages and supporting the concept of correlated external and internal pubertal development. Abstract Introduction Thelarche is often the first sign of puberty initiation in girls.
Andrius Cekuolis +6 more
wiley +1 more source