Results 31 to 40 of about 2,113 (150)

Streamlining Diagnosis of Bardet–Biedl Syndrome: New Diagnostic Algorithm With Updated Criteria

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Considerable advances have been made in our understanding of Bardet–Biedl syndrome (BBS), particularly in its core clinical features and molecular genetics, warranting an update to the existing diagnostic criteria framework. Using a rigorous, evidence‐based, and consensus‐driven process, a multidisciplinary group of international experts and ...
Jeremy J. Pomeroy, Jesse Richards, Brooke R. Sweeney, Seema Kumar, Katie E. Queen, Joshua Zaritsky, Carl H. Cramer, Elias I. Traboulsi, Brittni A. Scruggs, Erica E. Davis, Ekaterina Keifer, Emma McGibbon, Timothy Ogden, Bendert De Graaf, Tonia Hymers, Elizabeth Forsythe, Philip Beales   +16 more
wiley   +1 more source

Bilateral swelling self-inflating tissue expanders

, 2023
Hydrogel tissue expander (HTE) self-inflates in vivo by gradually absorbing body fluid. It eliminates the regular injections required by the conventional balloon-type tissue expander and provides a more progressive stretching process to the tissue ...
Min, Xue
core   +2 more sources

Syndactyly in pigs

Open Veterinary Journal
Background: Syndactyly, also known as mulefoot, is one of the most common physical extremity malformations. In pigs, syndactyly has been associated with genetic or environmental factors and occurs as an isolated defect or in association with other ...
Jose L. Fernandez-Vasquez, Samer Sanchez-Silva, Jorge Portal-Torres, Lizbeth Zambrano, Medali Cueva-Rodríguez   +4 more
doaj   +1 more source

Amniotic band syndrome: A case report and review of literature

Journal of the Scientific Society, 2018
Amniotic band syndrome is a rare disorder with reported incidence of 1 in 15000. The spectrum of the presentation includes a simple Streeter band on one side to multiple anomalies including craniofacial malformation.
Karthik Srevatsa, Manasi Gosavi, Pratap Kangle Ranjit, Krutika Mihirkumar Joshi   +3 more
doaj   +1 more source

Congenital Intraoral Synechiae: A Scoping Review of Airway, Feeding, and Surgical Management

Otolaryngology–Head and Neck Surgery, EarlyView.
Abstract Objective To map the existing literature on congenital intraoral synechiae and summarize reported anatomic patterns, clinical presentation, associated anomalies/syndromes, and outcomes to inform standardized diagnostic and therapeutic approaches. Data Sources PubMed, CINAHL, Embase, Web of Science, and Google Scholar were searched from January
Jason Bernier, Mathieu Bergeron
wiley   +1 more source

Smith-Lemli-Opitz syndrome: clinical and biochemical findings in Brazilian patients

Genetics and Molecular Biology, 2006
Smith-Lemli-Opitz syndrome (SLOS) or RSH syndrome comprises multiple congenital anomalies and mental retardation. The underlying defect is a deficiency in the activity of delta7-sterol reductase, which decreases cholesterol and increases 7 ...
Fernanda B. Scalco, Paulo A. Otto, Iguatemy L. Brunetti, Vania M. Cruzes, Danilo Moretti-Ferreira   +4 more
doaj   +1 more source

USP34 Haploinsufficiency as a Cause of Neurodevelopmental Phenotypes

Clinical Genetics, EarlyView.
Heterozygous loss‐of‐function variants in USP34 cause a novel neurodevelopmental disorder characterized by global developmental delay, speech impairment, autism, hypotonia, craniofacial dysmorphism, and distal limb anomalies. Disrupted Wnt/β‐catenin signaling via reduced Axin stabilization refines gene‐specific contributions within 2p15p16.1 ...
Helena Wigoda, Amjad Khan, Bryce A. Mendelsohn, Noriko Miyake, Nobuhiko Okamoto, Naomichi Matsumoto, Patricia J. C. Knijnenburg, Johanna M. van Hagen, Jiddeke van de Kamp, Quinten Waisfisz, Bryn D. Webb   +10 more
wiley   +1 more source

The Congenital Malformations in White Pregnant Mice Fetus Induced by Metformin Drug During 6-18 Days of Gestation

Ibn Al-Haitham Journal for Pure and Applied Sciences, 2018
     The metformin drug  is anti-hyperglycemia  and known to cross the placenta  which leads to the fetus during pregnancy .The aim of this study is to  define the drug  effects in the fetus growth . The doses  used , therapeutic dose ( 0.18 & 0.53 ) mg\
Faeza Nasir Toama, Aziz Khalid Hamid, Aziz Khalid Hamid, Asmat Jamal Jameel   +3 more
doaj   +1 more source

Caenorhabditis elegans as an in vivo model system for human inherited primary arrhythmia syndromes

The Journal of Physiology, EarlyView.
Abstract figure legend Most genes involved in inherited primary arrhythmia syndromes (IPAS) are conserved in Caenorhabditis elegans, where genetic manipulation enables functional characterization of variants, identification of regulatory proteins, and in vivo drug testing.
Antoine Delinière, Thomas Boulin, Maëlle Jospin, Alexandre Janin, Gilles Millat, Philippe Chevalier, Olga Andrini   +6 more
wiley   +1 more source

Clinical Management and Treatment of Polydactyly

Turkish Journal of Plastic Surgery, 2017
Objective: Polydactyly is one of the most common congenital anomalies of the hand and foot, and was first recorded in the hand in 1670. The extra digit rarely contains bone, and instead usually presents as a small piece of soft tissue.
Uğur Horoz, Buğçe Ballıoğlu, Hülda Rıfat Özakpınar, Emre İnözü, Avni Tolga Eryılmaz, Ali Teoman Tellioğlu   +5 more
doaj   +1 more source