Results 91 to 100 of about 22,740 (218)

Is a low sacral ratio associated with primary vesicoureteral reflux in children? [PDF]

, 2013
Introduction: The association of sacral anomalies with fecal incontinence and lower urinary tract dysfunction is known. The sacral ratio is proposed as a tool for evaluation of sacral development. The aim of this cross-sectional study was to evaluate the
Esfahani, S.T., Mehdizadeh, M., Rezaei-Hemami, M.   +2 more
core  

DiGeorge-like Syndrome in a Child with a 3p12.3 Deletion Involving MIR4273 Gene Born to a Mother with Gestational Diabetes Mellitus [PDF]

, 2007
Chromosome 22q11.2 deletion is the most common chromosomal alteration associated with DiGeorge syndrome (DGS), even though this is not the only underlying cause of DGS.
Cirillo, Emilia, Giardino, Giuliana, Gallo, Vera, Galasso, Giovanni, Romano, Roberta, D'Assante, Roberta, Scalia, Giulia, Vecchio, Luigi Del, Nitsch, Lucio, Genesio, Rita, Pignata, Claudio   +10 more
core   +2 more sources

First Identification of a Heterozygous RNU4‐2 and RNU4‐1 Deletion Associated With Fetal Urogenital and Anorectal Malformations

Prenatal Diagnosis, EarlyView.
Mario Abaji, Bénédicte Gerard, Laurent Nasca, Radia Fritih, Julie Blanc, Pierre Castel, Claude D'Ercole, Annie Levy‐Mozziconacci   +7 more
wiley   +1 more source

Recurrent Constellations of Embryonic Malformations (RCEM): Teratogenicity Linked to Transient Hypoxia and Hormone Pregnancy Tests Agrees With RCEM and Suggest a Reactive Oxygen Species Pathogenesis

Birth Defects Research, Volume 118, Issue 3, March 2026.
ABSTRACT Background No consistent genetic etiology has been found for a group of six different conditions in humans with multiple malformations called “recurrent constellations of embryonic malformations” (RCEM). Recent studies indicate hypoxia/reoxygenation and generation Reactive Oxygen Species (ROS) as an underlying mechanism for RCEM with the ...
Aaron P. Adam, Helen E. Ritchie, Margaret P. Adam, Bengt R. Danielsson   +3 more
wiley   +1 more source

A case of Poland Syndrome associated with dextroposition [PDF]

, 2010
Classical Poland Syndrome (PS) is characterized by unilateral, partial or complete absence of the sternocostal head of the major pectoral muscle and brachysyndactyly of fingers on the same side.
Doriana Lacorte, Maria Marsella, Pietro Guerrini   +2 more
core   +1 more source

Prenatal Diagnosis of Renal Anomalies Associated With a Novel Causative Variant in RAP1B Gene

Clinical Case Reports, Volume 14, Issue 3, March 2026.
A case of prenatal renal cystic disease and unilateral renal agenesis is reported. Molecular investigations including TRIO next‐generation sequencing analysis using the Clinical exome sequencing protocol identified the c.179G>T, p.(Gly60Val) “de novo” variant in a heterozygous state in the RAP1B gene.
Adalgisa Cordisco, Stefania Magliulo, Chiara Di Marco, Elisa Fortuna, Alessandra Terracciano, Claudio Meloni   +5 more
wiley   +1 more source

Deep Venous Thrombosis of the Leg, Associated with Agenesis of the Infrarenal Inferior Vena Cava and Hypoplastic Left Kidney (KILT Syndrome) in a 14-Year-Old Child

Case Reports in Pediatrics, 2015
Agenesis of the inferior vena cava (IVC) is a rare anomaly which can be identified as incidental finding or can be associated with iliofemoral vein thrombosis.
Sakshi Bami, Yarelis Vazquez, Valeriy Chorny, Rachelle Goldfisher, John Amodio   +4 more
doaj   +1 more source

Burden of Liver Disease Among Individuals With Turner Syndrome and Klinefelter Syndrome: A Comprehensive Perspective

Chronic Diseases and Translational Medicine, Volume 12, Issue 1, Page 39-48, March 2026.
ABSTRACT The liver is increasingly recognized as a major regulator of systemic cardio‐renal‐metabolic health. Evidence is mounting that sex‐chromosome dosage per se itself, independent of gonadal sex hormones, modulates hepatic physiology and liver disease risk.
Mohamad Jamalinia, Amedeo Lonardo, Ralf Weiskirchen   +2 more
wiley   +1 more source

Zinner Syndrome: A Rare Case Report

Journal of Urological Surgery
Over 200 cases of seminal vesicle cysts linked to ipsilateral renal agenesis have been reported in the literature, indicating Zinner syndrome. This condition occurs when the ureteric buds fail to meet the metanephros, leading to cystic dilatation in the ...
Gaurang R. Shah, Achint Bajpai, Husain Burhanpurwala   +2 more
doaj   +1 more source

Formin isoforms are differentially expressed in the mouse embryo and are required for normal expression of fgf-4 and shh in the limb bud [PDF]

, 1995
Mice homozygous for the recessive limb deformity (ld) mutation display both limb and renal defects. The limb defects, oligodactyly and syndactyly, have been traced to improper differentiation of the apical ectodermal ridge (AER) and shortening of the ...
Chan, David C., Leder, Philip, Wynshaw-Boris, Anthony   +2 more
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