Results 91 to 100 of about 13,140 (207)

Association between C677T variant of methylene tetrahydrofolate reductase and hypospadias risk in Algeria

The Turkish Journal of Pediatrics
Background. Hypospadias, a congenital condition characterized by the urethral opening being on the underside of the penis, has received limited attention in its association with the MTHFR C677T variant.
Rania Laouar, Djalila Chellat-Rezgoune, Meroua Horchi, Rayene Achou, Brahim Djoudi, Souhem Touabti, Yacine Benhizia, Karima Sifi   +7 more
doaj   +1 more source

WDTC1 Haploinsufficiency as a Cause of Neurodevelopmental Phenotypes

Clinical Genetics, Volume 110, Issue 1, Page 29-35, July 2026.
In seven individuals heterozygous for loss‐of‐function or conserved missense variants, we demonstrate that loss of WDTC1 function causes a neurodevelopmental syndrome characterized by developmental delay, intellectual disability, and seizures.
Elyssa Smith, Victor Faundes, Xiaonan Zhao, Bixia Zheng, Gang Zhang, Xiao Mao, Emily Danko, Jason Laufman, Thomas Besnard, Bertrand Isidor, Benjamin Cogné, Brynjar Örn Jensson, Telma S. Sulem, Patrick Sulem, Jill A. Rosenfeld, Daryl A. Scott   +15 more
wiley   +1 more source

CLINICAL PROFILE OF PATIENTS WITH HYPOSPADIAS IN SAIFUL ANWAR GENERAL HOSPITAL, MALANG

Jurnal Urologi Indonesia
Objective: This study aims to present the clinical profile of hypospadias patients in the Urology Department of Saiful Anwar Hospital. Material & Methods: This retrospective study analysed the characteristics of delayed hypospadias cases at Saiful Anwar
Fenni Henrizal, Besut Daryanto, Pradana Nurhadi   +2 more
doaj   +1 more source

Impact of Maternal Risk Stratification on Clinical Characteristics and Perinatal Outcomes in Singleton Pregnancies With Preeclampsia

The Journal of Clinical Hypertension, Volume 28, Issue 7, July 2026.
ABSTRACT This retrospective study of 4143 women at Fujian Maternal and Child Health Hospital (2012–2022) investigated how maternal risk levels influence clinical characteristics and perinatal outcomes in singleton pregnancies complicated by preeclampsia.
Qian Yu, Zewei Liang, Jiaying Zheng, Chengcheng Jin, Xingyi Qi, Jianying Yan, Xia Xu   +6 more
wiley   +1 more source

Comparison of Stretched Penile Length in Hypospadias Patients with Age Matched Normal Healthy Children using Nomogram

Journal of Indian Association of Pediatric Surgeons
Background: Stretched penile length (SPL) is a crucial metric in evaluating hypospadias. In this study, we aim to find whether there was any difference in the SPL in hypospadias patients when compared to the SPL of normal children of the same age group ...
Revanth Kalla, Nitinkumar B Borkar, Charu Sharma, C. Ashwin Kumar, T. Narasimha Murty, Rahul Giri   +5 more
doaj   +1 more source

HYPOSPADIAS

The Japanese Journal of Urology, 1990
Koyanagi, Tomohiko, Nonomura, Katsuya
openaire   +3 more sources

Transient B cell lymphopenia revealed by KRECs newborn screening: Post‐screening referral strategies, clinical course, and follow‐up

Pediatric Allergy and Immunology, Volume 37, Issue 7, July 2026.
Abstract Background Newborn screening (NBS) for inborn errors of immunity increasingly uses T‐cell receptor excision circles (TREC) and, in some programs, Kappa‐deleting recombination excision circles (KREC) to detect early T‐ and B‐cell lymphopenia. While TREC‐based screening is well established, the significance and management of isolated low KREC ...
Guarnieri Valentina, Drago Enrico, Pelosi Caterina, Boscia Silvia, Schena Francesca, Traverso Monica, Aloi Concetta, Salina Alessandro, Palmeri Serena, Cassanello Michela, Maghnie Mohamad, Astorino Valeria, Lodi Lorenzo, Azzari Chiara, Volpi Stefano, Ricci Silvia   +15 more
wiley   +1 more source

Histopathological Comparison and Expression Analysis of COL1A1, COL3A1, and ELN in the Proximal and Distal Ventral Dartos of Patients With Hypospadias: Protocol for Prospective Case-Control Study

JMIR Research Protocols
BackgroundThe exact cause of penile curvature in hypospadias remains unknown. Resection of the dartos fascia has been observed to straighten the penis, indicating the involvement of the dartos fascia in the superficial chordee ...
Putu Angga Risky Raharja, Ponco Birowo, Lisnawati Rachmadi, Heri Wibowo, Aria Kekalih, Gede Wirya Kusuma Duarsa, Tariq Abbas, Irfan Wahyudi   +7 more
doaj   +1 more source

A Novel PPP1R12A Splice‐Site Variant Identified in a Female Fetus With Perineal Hamartoma

Prenatal Diagnosis, Volume 46, Issue 8, Page 1290-1293, July 2026.
Shiyu Chen, Xi Tan
wiley   +1 more source

Adult woman presenting progressive enlargement of mass on the left leg

JAAD Case Reports
Yilong Guo, MD, Ning Ma, MD, Sen Chen, MD, Yangqun Li, MD, Zhe Yang, MD   +4 more
doaj   +1 more source