Results 111 to 120 of about 22,740 (218)

Kdf1 Regulates Molar Cusp Morphogenesis via the PI3K/AKT/mTOR Signalling Axis

Cell Proliferation, Volume 59, Issue 3, March 2026.
Epithelial Kdf1 knockout disrupts molar cusp morphogenesis by promoting inner enamel epithelium proliferation and invagination via PI3K/AKT/mTOR signalling. ABSTRACT Keratinocyte differentiation factor 1 (Kdf1) reportedly plays a significant role in enamel formation.
Jiayu Wang, Miao Yu, Hangbo Liu, Kai Sun, Chenxin Geng, Haochen Liu, Hailan Feng, Yang Liu, Hu Zhao, Dong Han   +9 more
wiley   +1 more source

Mapping of a new locus for congenital anomalies of the kidney and urinary tract on chromosome 8q24 [PDF]

, 2017
Background. Congenital anomalies of the kidney and urinary tract (CAKUT) account for the majority of end-stage renal disease in children (50%). Previous studies have mapped autosomal dominant loci for CAKUT.
Ashraf, Shazia, Chaib, Hassan, Hacker, Hans W., Hildebrandt, Friedhelm, Hoefele, Julia, Hoskins, Bethan E., Nuernberg, Gudrun, Nuernberg, Peter, Otto, Edgar A., Pasch, Andreas, Saisawat, Pawaree, Trefz, Friedrich   +11 more
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Parental counselling and autopsy results: A retrospective diagnostic cohort study at a multidisciplinary fetal neurology clinic

Developmental Medicine &Child Neurology, Volume 68, Issue 3, Page 441-452, March 2026.
Plain language summary: https://onlinelibrary.wiley.com/doi/10.1111/dmcn.70022 This original article is commented on by Scelsa on pages 311–312 of this issue. Abstract Aim To examine the accuracy of prenatal counselling at a multidisciplinary fetal neurology clinic (FNC) that led to termination of pregnancy (TOP), to improve the quality of future ...
Avi Shariv, Michal Gafner, Zvi Leibovitz, Letizia Schreiber, Dvora Kidron, Ayala Arad, Efrat Hadi, Stephanie Libzon, Liat Ben Sira, Maya Goldschmidt Manor, Dorit Lev, Tally Lerman‐Sagie, Liat Gindes   +12 more
wiley   +1 more source

Robert's uterus with ipsilateral renal agenesis presenting as pelvic inflammatory disease in a teenager: A case report

Journal of Pediatric Surgery Case Reports
Introduction: Robert's uterus, with ipsilateral renal agenesis, is an exceptionally rare Mullerian duct anomaly (MDA). It usually presents with cyclical pain, but presentation as pelvic inflammatory disease in an adolescent is extremely uncommon.
Akkamahadevi C. Hiremath, Harshita Ramamurthy, T.D. Nandeesha, R. Padmasri   +3 more
doaj   +1 more source

Clinical aspects of Mayer-Rokitansky-Kuester-Hauser syndrome: recommendations for clinical diagnosis and staging [PDF]

, 2017
BACKGROUND: The Mayer-Rokitansky-Kuester-Hauser (MRKH) syndrome is a malformation of the female genitals (occurring in one in 4000 female live births) as a result of interrupted embryonic development of the Müllerian (paramesonephric) ducts.
Beckmann, Matthias W., Brucker, Sara, Hauser, Georges A., Kellermann, Anja, Ludwig, Kurt S., Oppelt, Peter, Renner, Stefan P., Strick, Reiner, Strissel, Pamela L., Wallwiener, Diethelm   +9 more
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Diagnosis of femoral hypoplasia-unusual facies syndrome in the fetus. [PDF]

, 2007
D'ARMIENTO, MARIA, Leone F, MARTINELLI, PASQUALE, Maruotti GM, PALADINI, DARIO, Penner I, Sglavo G   +6 more
core   +1 more source

Zinner syndrome: Late-Diagnosis in a 55-year-old male and favorable outcome after surgical excision - A case report and review of the literatureKey points

Urology Case Reports
Zinner Syndrome (ZS) is a rare congenital anomaly defined by the triad of unilateral renal agenesis, ipsilateral seminal vesicle cyst, and ejaculatory duct obstruction. We report a 55-year-old male presenting with chronic perineal pain and LUTS.
Kinh Luan Thai, Duy Dien Nguyen, Do La Quach, Nho Tinh Le, Le Quy Van Dinh, Minh Dinh Nguyen, Ryan Dobbs, Ho Trong Tan Truong, Tuan Thanh Nguyen, Xuan Thai Ngo   +9 more
doaj   +1 more source

Central blood volume in cirrhosis [PDF]

, 1993
Bendtsen, Flemming, Gerbes, Alexander L., Henriksen, Jens H.   +2 more
core   +1 more source

Vaginal clear cell adenocarcinoma with associated Mullerian duct anomalies, renal agenesis and situs inversus: report of a case with no known in-utero exposure with diethyl stilboestrol [PDF]

, 2009
A 27 year old female presented with two months history of continuous vaginal bleeding. On evaluation, she was diagnosed as a case of vaginal clear cell adenocarcinoma (VCCA) along with associated Mullerian duct anomalies including didelphys uterus with ...
Ahsan, Aamir, Zeeshan-ud-din,
core   +1 more source

Syndrome mermaid - severe syndrome of caudal regression [PDF]

, 2017
Congenital limb malformations rank behind congenital heart disease as the most common birth defects observed in infants. The term «sirenomelia» («mermaid syndrome») is derived from the physical similarity of the affected fetus to mythical creatures ...
Gargin, V.V., Nikolaenko, E.U.
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