Results 191 to 200 of about 343,772 (315)

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

Chronic tubal ectopic pregnancy with undetectable serum β-hCG mimicking a large ovarian endometrioma: A case report. [PDF]

Case Rep Womens Health
Al-Dhaheri L, Al-Kholani A.
europepmc   +1 more source

Spectrum of Congenital Anomalies in Myhre Syndrome—Insights Into Effects Brought by Altered TGF‐β Signaling via Gain‐of‐Function Variants in SMAD4

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome is a rare genetic disorder characterized by progressive multisystem involvement. Gain‐of‐function missense heterozygous variants affecting the Ile500 residue and Arg496 residue of the SMAD4 gene are implicated in this condition.
Kawmadi Gunawardena, Alessandro De Falco, Deborah Osio, Eleanor Sherlock, Emma Kivuva, Erina Sasaki, Francis H. Sansbury, Nayana Lahiri, Patricia Foley, Sahar Mansour, Shane McKee, Tazeen Ashraf, Nicola Brunetti‐Pierri, Usha Kini   +13 more
wiley   +1 more source

A Rare Dual Pathology in Refractory Chronic Rhinosinusitis: Maxillary Ectopic Tooth With Fungal Ball. [PDF]

Case Rep Otolaryngol
Lin YR, Lu YC, Lu YT.
europepmc   +1 more source

Uncovering Cystic Fibrosis Carrier: Insights From a Heterozygous CFTR‐F508del Rabbit Model

International Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background Chronic rhinosinusitis (CRS) is a heterogeneous inflammatory disorder frequently associated with impaired mucociliary clearance and bacterial infection. Individuals carrying a single cystic fibrosis transmembrane conductance regulator (CFTR) mutation exhibit partial CFTR dysfunction and are increasingly recognized as being at risk ...
Do‐Yeon Cho, Alexis E. McFeely, Daniel Skinner, Shaoyan Zhang, Justin Hedvat, Weslee Ping‐ay, Daniel M. Beswick, Justin H. Turner, Bradford A. Woodworth, Jie Xu   +9 more
wiley   +1 more source

Single-Cell Transcriptomic Profiling and Machine Learning Integration Unveil Stromal Cell Heterogeneity in Endometriosis. [PDF]

Hum Mutat
Zhang H, Luo Y.
europepmc   +1 more source

A microscopically assisted limited colectomy mouse model of early colon cancer

Animal Models and Experimental Medicine, EarlyView.
Establishment, surgery, and evaluation process of a microscope‐assisted limited colon resection mouse model for early‐stage colon cancer. Abstract Background Currently, there is a lack of an adequate rodent model for investigating surgical techniques and comprehensive treatment options for patients with colorectal cancer (CRC).
Yu Han, Yixin Zhang, Dazhi Gao, Xuefeng Zhao   +3 more
wiley   +1 more source

New insights gained from a decade long multi-center retrospective study on the management strategy for heterotopic pregnancy: expectant management is worth considering in patients without vaginal bleeding. [PDF]

Front Med (Lausanne)
Chen X, Liu Y, Kang S, Shi W, Ouyang J, Su T, Li S.   +6 more
europepmc   +1 more source

Equine models in translational medicine: A comparative approach to human health

Animal Models and Experimental Medicine, EarlyView.
This diagram summarizes and contrasts rodent and equine models, outlining their strengths, limitations, and applications. Horses offer naturally occurring diseases, genetic and physiological similarities to humans, and suitability for longitudinal and clinical‐scale studies.
Shayan Boozarjomehri Amnieh, Katarzyna Ropka‐Molik   +1 more
wiley   +1 more source

Rupture of interstitial ectopic pregnancy secondary to invasive hydatidiform mole with pelvic metastasis in perimenopausal women: A case report. [PDF]

Medicine (Baltimore)
Xu L, Li Y, Wang T, Zhao Y.
europepmc   +1 more source