Results 101 to 110 of about 47,634 (314)

Androgen receptor polymorphisms and testicular cancer risk [PDF]

, 2015
Testicular cancer (TC) is currently the most common malignant solid tumour in Caucasian males aged 15-39 years. Epidemiological evidence suggests that its onset may be due to an imbalance in the action of steroidal sex hormones and their receptors.
CARLINI, TANIA, F. Rizzo, GANDINI, Loredana, GIANNANDREA, FABRIZIO, GRASSETTI, Daniele, LENZI, Andrea, LOMBARDO, Francesco, MASCIANDARO, PAOLA, PAOLI, Donatella, V. Figura   +9 more
core   +1 more source

Detection of the Heterozygous Recurrent MAX p.(Arg60Gln) Variant in Two Females Confirms and Expands the Phenotypic Spectrum of Polydactyly–Macrocephaly Syndrome

Clinical Genetics, EarlyView.
We identified a recurrent heterozygous MAX c.179G>A:p.Arg60Gln variant in two unrelated females affected with the emerging phenotypes of MAX‐associated polydactyly‐macrocephaly syndrome. We propose that genitourinary abnormalities, including Mayer–Rokitanski–Kuster–Hauser syndrome in one individual, are an expansion of the known phenotypes associated ...
Iftekhar A. Showpnil, Neta Feinstein‐Goren, Lior Greenbaum, Ortal Barel, Daniel C. Koboldt, Samantha A. Brugmann, Kathryn Nicole Weaver, Anne Slavotinek, Ben Pode‐Shakked, Rolf W. Stottmann   +9 more
wiley   +1 more source

The Phenotypic and Genotypic Features of ADAMTSL4‐Related Ocular Disease

Clinical Genetics, EarlyView.
ADAMTSL4‐related ocular disease tends to present at a younger age and be associated with higher myopia than other forms of ectopia lentis (such as FBN1). A previously reported 20‐bp deletion (c.767_786del) was highly prevalent in this cohort (23/32), and all ectopia lentis et pupillae cases carried this variant. ABSTRACT Pathogenic variants in ADAMTSL4
Katie M. Williams, Wolfgang Berger, Samuel Koller, Fatma Kivrak Pfiffner, Alessandro Maspoli, Jiradet Gloggnitzer, Britta V. T. Brühwiler, Christina Stathopoulos, Francis Munier, Louise Allen, Christos Iosifidis, Graeme C. Black, Panagiotis I. Sergouniotis, Ian Christopher Lloyd, Christina Gerth‐Kahlert   +14 more
wiley   +1 more source

Prenatal diagnosis of hypospadias with 2-dimensional and 3-dimensional ultrasonography

Scientific Reports, 2019
To compare the prenatal diagnostic performance as well as appearance of ultrasonic details between 2-dimensional ultrasonography (2DUS) combined with 3-dimensional ultrasonography (3DUS) and 2DUS alone for hypospadias. A total of 47 fetuses were enrolled
Xiaohua Li, Aqing Liu, Zhonglu Zhang, X. An, Shaochun Wang   +4 more
semanticscholar   +1 more source

Is Surgical Treatment for Obstructive Sleep Apnea in Infants and Toddlers Safe? A Retrospective Comparative Analysis

Clinical Otolaryngology, EarlyView.
ABSTRACT Objective To assess if surgery for Obstructive Sleep Apnea Disorder (OSAD) is safe for infants and toddlers. Methods Retrospective cohort study of paediatric patients undergoing OSA surgery; partial or complete tonsillectomy with adenoidectomy, tonsillectomy without adenoidectomy and adenoidectomy.
Daniel Levi, Daniel Yafit, Aviad Sapir, Yotam Heilig, Tomer Kerman, Oriya Damri, Inbal Golan‐Tripto, Daniel Michael Kaplan, Oren Ziv   +8 more
wiley   +1 more source

Risk Factors for hypospadias in Northwest Russia: A Murmansk County Birth Registry Study.

PLoS ONE, 2019
BackgroundHypospadias is the most common congenital anomaly of the penis, but its causes are mainly unknown. Of the risk factors identified, the most plausible are hormonal and genetic.
Anton A Kovalenko, Tormod Brenn, Jon Øyvind Odland, Evert Nieboer, Alexandra Krettek, Erik Eik Anda   +5 more
doaj   +1 more source

Acute postoperative complications of hypospadias repair

Indian Journal of Urology, 2008
Purpose: Complications in hypospadias surgery are higher than other reconstructive procedures. The incidence of complications can be reduced if proper preventive measures are taken. The review aims to highlight incidences, causes, and preventive measures
Amilal Bhat, Arup Kumar Mandal
doaj   +1 more source

Unusual presentation of female bladder outlet obstruction- female hypospadias with urethral stenosis

Urology Case Reports, 2020
Hypospadias is a rare birth deformity characterised by shortening of urethra with dorsal ectopia of the urethral meatus. The occurrence of hypospadias in female patients is extremely rare.
Gaurav Bavadiya, Chetan shah, Kalyan K. Sarkar, Prithviraj Ghoshal, Himadri Pathak, Kaushik Sarkar   +5 more
doaj   +1 more source

Hubungan Insiden Fistula Uretrokutaneus Dengan Tipe Hipospadia Pasca Operasi Uretroplasti [PDF]

, 2015
Hypospadias is the second most common congenital abnormalities of thepenis. Management of hypospadias performed with a surgical procedure that iscordectomy and urethroplasty.
Burhanuddin, L. (Laode), Prada, W. D. (Wendy), Wahid, T. O. (Tubagus)   +2 more
core  

A Potential Pathogenic SRD5A2 Mutation and rs632148, rs523349 and rs522638 Polymorphisms in Increasing the Risk of Syndromic Hypospadias in Indonesian Population

Indonesian Biomedical Journal
BACKGROUND: Hypospadias, a congenital birth defect in male, is the opening of the urethra located on the ventral side of the penis. Several mutations in SRD5A2 encoding steroid 5 alpha-reductase type 2 protein have been identified in hypospadias and ...
Rizki Diposarosa, Yunisa Pamela, Herry Herman, Yunia Sribudiani   +3 more
doaj   +1 more source