Results 41 to 50 of about 11,961 (197)

Genomic copy number variation association study in Caucasian patients with nonsyndromic cryptorchidism [PDF]

, 2016
Copy number variation (CNV) is a potential contributing factor to many genetic diseases. Here we investigated the potential association of CNV with nonsyndromic cryptorchidism, the most common male congenital genitourinary defect, in a Caucasian ...
Abrams, Debra J., Banihani, Ahmad H., Barthold, Julia Spencer, Chiavacci, Rosetta M., Devoto, Marcella, Figueroa, T. Ernesto, Gonzalez, Ricardo, Hagerty, Jennifer A., Hakonarson, Hakon, Harden, Kisha R., Kim, Cecilia E., Kolon, Thomas F., Li, Jin, Noh, Paul H., Olivant Fisher, Alicia, Sol Church, Katia, Stabley, Deborah, Wang, Yanping   +17 more
core   +1 more source

Yield of Whole Genome Sequencing for Pathogenic Single Nucleotide Variants in Congenital Heart Disease: A Systematic Review and Meta‐Analysis

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective This systematic review and meta‐analysis aimed to assess the diagnostic yield of pathogenic or likely pathogenic (P/LP) single nucleotide variants (SNVs) using whole genome sequencing (WGS) in congenital heart disease (CHD). Methods A systematic search of three databases (2000–2024) was conducted, and two reviewers independently ...
Hiba J. Mustafa, Parisa Najjariasl, Faezeh Aghajani, Enaja V. Sambatur, Andrew Rodenbarger, Stephanie Guseh, Amy E. Roberts, Alireza A. Shamshirsaz   +7 more
wiley   +1 more source

Cancer risk in mothers of men operated for undescended testis.

PLoS ONE, 2010
BackgroundUndescended testis, or cryptorchidism, occurs in 2-5% of boys born at term, and by 12 months of age about 1% of all boys have manifest cryptorchidism.
Hadriano M Lacerda, Lorenzo Richiardi, Andreas Pettersson, Marine Corbin, Franco Merletti, Olof Akre   +5 more
doaj   +1 more source

Triorchidism: Unilateral double atrophic undescended testis in Tertiary Specialized Hospital, Ethiopia

Journal of Pediatric Surgery Case Reports, 2020
Introduction: Polyorchidism is a rare congenital anomaly characterized by the presence of more than two intra- or extra-scrotal testicles. There are more than 200 cases reported in the medical literature so far (Balasar et al., 2017; Bergholz and Wenke ...
Workye Tigabie, Belachew Dejenie
doaj   +1 more source

The results of surgical treatment for cryptorchidism at Landspitalinn, 1970-1993 [PDF]

, 2003
Neðst á síðunni er hægt að nálgast greinina í heild sinni með því að smella á hlekkinn View/OpenObjective: Cryptorchidism is a common congenital genito-urological anomali in males with increased risk of infertility and testicular cancer.
Anna Gunnarsdóttir, Drífa Freysdóttir, Guðmundur Bjarnason, Jónas Magnússon, Tómas Guðbjartsson, Þráinn Rósmundsson   +5 more
core  

Role of imaging in the diagnosis and management of complete androgen insensitivity syndrome in adults [PDF]

, 2013
Complete androgen insensitivity syndrome is an X-linked recessive androgen receptor disorder characterized by a female phenotype with an XY karyotype.
De Visschere, Pieter, Nezzo, Marco, T'Sjoen, Guy, Villeirs, Geert, Weyers, Steven   +4 more
core   +4 more sources

Evolving Features of RASopathies Among Pregnancies With Abnormal Fetal Fluid Collections

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective We aimed to characterize the fetal features across gestation and describe genotype‐phenotype correlations for pregnancies with fetal RASopathies that were more severely affected as they presented with at least one abnormal fluid collection.
Natalie B. Gulrajani, John Boscardin, Billie R. Lianoglou, Katie Tick, Carmen M. A. Santoli, Kristen A. Miller, Angie C. Jelin, Lorraine Dugoff, Rose Giardine, Cori Feist, Rachel Pilliod, Stephanie Dukhovny, Kelly Gilmore, Neeta L. Vora, Aisling Murphy, Peter N. Robinson, Mary E. Norton, Teresa N. Sparks   +17 more
wiley   +1 more source

Prevalence of inguinoscrotal pathologies and risk factors in a cohort of 388 children with spina bifida

The Turkish Journal of Pediatrics, 2022
Background. There is limited information about the prevalence and risk factors of inguinal hernia and undescended testis in patients with spina bifida (SB).
Ş Kerem Özel, Mustafa Alper Küçüknane, Dicle Özge Özgenel, Vuslat Özer, Hüseyin Canaz, İbrahim Alataş   +5 more
doaj   +1 more source

Role of androgen and gonadotrophins in the development and function of the Sertoli cells and Leydig cells: data from mutant and genetically modified mice [PDF]

, 2009
Development and maintenance of the male phenotype and establishment of fertility are all dependent upon the activity of the Sertoli cells and Leydig cells of the testis.
Abel, M.H., Baker, P.J., Huhtaniemi, I., Morris, I.D., O'Shaughnessy, P.J.   +4 more
core   +1 more source

Semen quality in patients with testicular cancer is associated with age and with greatly elevated levels of beta human chorionic gonadotropin

Andrology, EarlyView.
Abstract Background Poor semen quality is a well‐known feature in patients with testicular germ cell tumours (GCTs) at the time of diagnosis but the underlying biological reasons are incompletely understood. Objectives This study aimed to identify GCT‐specific clinical factors that are involved with poor semen quality in GCT patients.
Klaus‐Peter Dieckmann, Johanna Hochmuth‐Tisch, Andrea Salzbrunn, Cord Matthies, Kathrein von Kopylow, Marta Godlewska, Christian Wülfing, Uwe Pichlmeier, Armin Soave, Christian Guido Ruf   +9 more
wiley   +1 more source