Results 101 to 110 of about 119,765 (268)

De Novo Complex Genomic Rearrangement Spanning 2q31.1 in a Proband With Congenital Malformations: Genotype–Phenotype Correlation and Development of a CGR Detection Pipeline

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The 2q31 region is commonly associated with pathogenic alleles of the HOXD cluster leading to various clinical phenotypes related to skeletal development. We present a proband with tetralogy of Fallot and multiple congenital anomalies. Genomic variant screening including an in‐house CGR detection pipeline pairing genome sequencing (GS ...
Katherine Helle, Jesse D. Bengtsson, Mira Gandhi, Christopher M. Grochowski, Ming Yin Lun, Neha Sudhir, Shalini N. Jhangiani, Fritz J. Sedlazeck, Seema R. Lalani, Neil A. Hanchard, Claudia M. B. Carvalho   +10 more
wiley   +1 more source

Congenital esophageal stenosis : a rare malformation of the foregut [PDF]

, 2019
2019-11Congenital esophageal stenosis (CES) is a type of esophageal stenosis, and three histological subtypes (tracheobronchial remnants, fibromuscular thickening or fibromuscular stenosis, and membranous webbing or esophageal membrane) are described ...
Govedarović, Nenad, Živanović, Dragoljub, Golubović, Mladjan, Stoičkov, Viktor, Dimić, Dragan, Mladenović, Bojan, Brzački, Vesna, Jeremić, Ljiljana   +7 more
core   +1 more source

Effects of vessel dynamics and compliance on human right coronary artery hemodynamics with / without stenosis

Journal of Biomechanical Science and Engineering, 2015
A computational study of effects of vessel dynamics and compliance on coronary artery hemodynamics with / without stenosis is presented. The coronary artery hemodynamics with stenosis has been a main subject as one of the major cardiovascular diseases ...
Takashi FUJIWARA, Fuyou LIANG, Ken-ichi TSUBOTA, Michiko SUGAWARA, Yu-qi FAN, Hao LIU   +5 more
doaj   +1 more source

Localization of endovascular tools in X-ray images using a motorized C-arm: visualization on HoloLens

Current Directions in Biomedical Engineering, 2020
C-arms are medical devices widely used for image-guided minimally invasive endovascular procedures. This technology requires considerable experience for the physicians to position the C-arm to obtain X-ray images of the endovascular tools.
Chen Yenjung, Shah Nilay Yatinkumar, Goswami Subhra Sundar, Lange Annkristin, von Haxthausen Felix, Sieren Malte Maria, Hagenah Jannis, Ernst Floris, García-Vázquez Verónica   +8 more
doaj   +1 more source

Descriptive Epidemiology From the Myhre Syndrome Foundation Registry: The Value of Self‐Reported Data

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome is an ultrarare genetic disease characterized by short stature, distinct craniofacial features, cardiovascular and respiratory fibrosis and stenosis, neurodevelopmental delays, autism, intellectual disability, and hearing loss. The natural history of Myhre syndrome is still not fully understood due to a small patient population ...
Mary K. Young, Armelle Pindon, Maggie R. Brand, Kate Wears, Katherine H. Young, Alyssa Mendel, Michael J. Lyons   +6 more
wiley   +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

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

Delayed Amplatzer device closure of atrial septal defect for persistent cyanosis after surgical correction of severe pulmonary stenosis in early infancy [PDF]

, 2004
This article presents two patients who had delayed transcatheter closure of secundum atrial septal defects for persistent cyanosis after surgical repair of severe pulmonary stenosis.
DeGiovanni, Joseph V., Grech, Victor E., Falzon, A.   +2 more
core  

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

Risk of Stroke before Revascularisation in Patients with Symptomatic Carotid Stenosis: A Pooled Analysis of Randomised Controlled Trials: A Pooled Analysis of Randomised Controlled Trials

, 2021
OBJECTIVE: Current guidelines recommending rapid revascularisation of symptomatic carotid stenosis are largely based on data from clinical trials performed at a time when best medical therapy was potentially less effective than today.
Carotid Stenosis Trialists’ Collaboration
core