Results 201 to 210 of about 37,774 (292)

The incremental yield of CMA over karyotype in fetal ventriculomegaly: a systematic review and meta-analysis. [PDF]

Arch Gynecol Obstet
Sapantzoglou I, Fasoulakis Z, Tasias K, Rouvali A, Pegkou A, Theodora M, Daskalakis G, Antsaklis P.   +7 more
europepmc   +1 more source

A personalized genomic-medicine approach to rare genomic disorders associated with simple chromosomal structural variants. [PDF]

HGG Adv
David D, Fino J, Rodrigues M, Nunes SS, Gonçalves R, Freixo JP, Moldovan O, Carvalho I, Oliva-Teles N, Soares AR, Haltrich I, Yu M, Dong Z, Venâncio M, Morton CC.   +14 more
europepmc   +1 more source

Karyotyp [PDF]

, 2018
openaire   +1 more source

Multidimensional Determinants of Quality of Life in Men With Klinefelter Syndrome: A Narrative Review of Workshop Evidence

Andrology, EarlyView.
ABSTRACT Background Klinefelter syndrome (KS), typically characterized by a 47, XXY karyotype, is the most common sex chromosomal aneuploidy in males, with a prevalence of approximately one in 600–660 individuals. Despite its frequency, the syndrome remains significantly underdiagnosed, with 50%–75% of affected individuals never receiving a clinical ...
Francesca Allosso, Lucia Digitale Selvaggio, Daniela Pasquali   +2 more
wiley   +1 more source

Clinical utility of chromosomal microarray analysis for genetic diagnosis in 708 cases of spontaneous abortion tissues. [PDF]

BMC Pregnancy Childbirth
Huang Y, An Q, Tao Y, Liu G, Li X.
europepmc   +1 more source

Lower Systolic Blood Pressure in 67 Boys With Klinefelter Syndrome Compared to 1842 Healthy Danish Boys

Andrology, EarlyView.
ABSTRACT Objective Our objective was to develop age‐ and height‐specific reference ranges for blood pressure, pulse pressure and mean arterial pressure in healthy boys and to compare these to measurements in patients with Klinefelter syndrome followed longitudinally through childhood and adolescence. Design Cohort study consisting of a population‐based
Andrés Felipe Ø. Fritzbøger, Riccardo Battiston, Cecilie N. Larsen, Anna Sophie L. Kjaer, Klaus Juul, Ida M. Schmidt, Jørgen H. Petersen, Katharina M. Main, Anders Juul, Lise Aksglaede   +9 more
wiley   +1 more source

How Are SNP-Array, Karyotyping, and FISH Applied in Prenatal Practice? A Focus on Diagnosis of Mosaicism Involving the Sex Chromosomes. [PDF]

Prenat Diagn
Luo X, Niu H, Chen X, Zhou F, Cong X, Li S, Pei Y, Chang L, Liu W, Wei F.   +9 more
europepmc   +1 more source

Prenatal imaging phenotypes and outcomes of umbilical‐portal‐systemic venous shunts in singleton and twin pregnancies: A historical cohort study

Acta Obstetricia et Gynecologica Scandinavica, EarlyView.
This retrospective cohort compared umbilical‐portal‐systemic venous shunts in singleton and twin pregnancies. Type III was the most common subtype in singletons, whereas Type II was the most common in twins. Fetal growth restriction was more frequent in twins, but primary structural anomaly rates were similar.
Yun Zhang, Meng Meng, Fengyu Wu, Jianping Chen, Fenhe Zhou, Yuchun Ge, Ya Xing, Xinyao Zhou, Gang Zou   +8 more
wiley   +1 more source

Prevalence of Klinefelter syndrome among infertile men with spermogram abnormalities: a cross-sectional study at a referral laboratory in Rabat, Morocco. [PDF]

Pan Afr Med J
Chebihi ZT, Chadli E, Hadrya F, Belkadi B, Belkhayat A.   +4 more
europepmc   +1 more source