Results 141 to 150 of about 1,105 (264)

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

Surgical Excision with Adjuvant Therapies in the Management of Keloids: A Systematic Review. [PDF]

Medicina (Kaunas)
Wojarska M, Kokot K, Ossowska B, Borzyszkowska W, Szóstek H, Stolp A, Zakrzewska I, Durska Z, Wojciechowska J, Jabłoński B, Jankau J.   +10 more
europepmc   +1 more source

Effect of Secondary Cold Reduction Rates on Microstructure, Texture and Earing Behavior of Double Reduction Tinplate. [PDF]

Materials (Basel), 2021
Tian P, Liao L, Zhu G, Kang Y.
europepmc   +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

Earing Prediction of AA5754-H111 (Al-Alloy) with Linear Transformation-Based Anisotropic Drucker Yield Function under Non-Associated Flow Rule (Non-AFR). [PDF]

Materials (Basel)
Gao X, Zhang Z, Xu Z, Wan X, Wang S, Mubashir NM.   +5 more
europepmc   +1 more source

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

Pediatric Right Atrial Mass With Pulmonary Embolization. [PDF]

CASE (Phila)
Kandoi K, Ganigara M, Hibino N, Earing MG.   +3 more
europepmc   +1 more source

Co‐Occurring Non‐Cardiac Congenital Anomalies Among Cases With Congenital Heart Defects

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cases with congenital heart defects (CHD) often have other associated anomalies. The aim of this investigation was to assess the prevalence and the types of co‐occurring anomalies in CHD in a well‐defined population. The anomalies co‐occurring with CHD were ascertained in all live births, stillbirths and terminations of pregnancy for fetal ...
Claude Stoll, Yves Alembik, Marie‐Paule Roth   +2 more
wiley   +1 more source

Combined heart and liver transplant in a patient with failing Fontan and total situs inversus. [PDF]

JTCVS Tech
Dayal A, Ganigara M, Pophal SG, Jeevanandam V, Barth R, Fung J, Te H, Earing M, Nguyen A.   +8 more
europepmc   +1 more source

The association between cardiac magnetic resonance-derived aortic stiffness parameters and aortic dilation in young adults with bicuspid aortic valve: With and without coarctation of aorta. [PDF]

Am Heart J Plus, 2022
Chongthammakun V, Pan AY, Earing MG, Damluji AA, Goot BH, Cava JR, Gerardin JF.   +6 more
europepmc   +1 more source