Results 131 to 140 of about 77,845 (358)

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

Commentary: PET/MR Versus PET/CT Imaging: Impact on the Clinical Management of Small-Bowel Crohn’s Disease

Frontiers in Medicine, 2017
Sophie James, Jonathan Tyrrell-Price
doaj   +1 more source

Significant Obliteration of the Lumen after Wallstent Implantation [PDF]

, 1992
Stief, Christian Georg, Seabert, J., Krah, H., Jonas, Udo, Allhoff, E. P., Djamilian, Mohamad H.   +5 more
core   +1 more source

Therapy for Myhre Syndrome: Goals, Misconceptions, and Current Agents

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre Syndrome (MYHRS, MIM #139210) is a rare, multisystem connective tissue disorder caused by recurrent heterozygous gain‐of‐function pathogenic variants in the SMAD4 gene, a key player in TGF‐β signaling and a regulator of extracellular matrix homeostasis.
Alessandro De Falco, Alfonso Manuel D'Alessio, Nicola Brunetti‐Pierri   +2 more
wiley   +1 more source

Distribution of Gastrointestinal and Dietary Risk Factors Among U.S. Adults Classified as Having Iron Deficiency Anemia Across Diagnostic Thresholds

American Journal of Hematology, EarlyView.
Omar Al Ta’ani, Bridget M. Mayrer, Nicole M. Luche, Shazia Mehmood Siddique, Scott A. Peslak, Timothy S. Anderson, Ravy K. Vajravelu   +6 more
wiley   +1 more source

Review of the Molecular and Developmental Basis of Myhre Syndrome, Bench Research

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome (MS) is a connective‐tissue disorder within the acromelic dysplasia spectrum. It is characterized by congenital craniofacial, skeletal, cutaneous anomalies, respiratory, cardiovascular along with intellectual disability, deafness, and progressive fibrosis.
Camille Viaut, Valerie Cormier‐Daire
wiley   +1 more source

A Case of Stricture of the Trachea [PDF]

Journal of the Royal Society of Medicine
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openaire   +2 more sources

A Novel Splice Variant in ERGIC1 Causes Arthrogryposis Multiplex Congenita—Characterization Using Urine‐Derived Cells

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis multiplex congenita (AMC) is defined as the presence of joint contractures affecting at least two body regions at birth. Three different ERGIC1 variants have been reported in individuals with AMC. Here, we report on a 16‐year‐old male with a homozygous ERGIC1 c.250+1G>A variant that was classified as a variant of uncertain ...
Lauren Kerr, Paul McKay, Juliana Marulanda, Zenghui Wu, Reggie Hamdy, Sena Tavukcu, Noémi Dahan‐Oliel, Frank Rauch   +7 more
wiley   +1 more source

Post-living donor liver transplant biliary strictures: prevalence, predictors, and long-term outcomes in a retrospective study

Clinical Transplantation and Research
Background : Post-liver transplant biliary strictures are a common cause of morbidity among patients who have undergone living donor liver transplantation (LDLT).
Shekhar Singh Jadaun, Phani Kumar Nekarakanti, Sushant Bhatia, Mukesh Kumar, Pankaj Singh, Vikas Singla, Shweta A. Singh, Shaleen Agarwal, Sanjiv Saigal, Subhash Gupta   +9 more
doaj   +1 more source

Is This Stricture Inflammatory? [PDF]

Digestion, 2011
openaire   +2 more sources