Results 141 to 150 of about 331,856 (335)

Clinical Presentation of the Longest Reported Living Individual With Bent Bone Dysplasia—FGFR2‐Related

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The FGFR2 gene, encoding the FGFR2 protein, plays a crucial role in embryonic cell development, particularly in bone tissue. Bent Bone Dysplasia (BBD), FGFR2‐related (MIM# 614592), is a rare severe skeletal dysplasia characterized by craniofacial differences, reduced bone mineral density, and bowed long bones.
Cheyenne Bates, Pardeep Gill, Matthew Choi, Frances Mahon, Blake Yarascavitch, Audrey Lim, Resham Ejaz   +6 more
wiley   +1 more source

Engineering Fluoroacetate Dehalogenase by Growth‐Based Selections on Non‐Natural Organofluorides

Angewandte Chemie, EarlyView.
We present a high‐throughput selection system to engineer fluoroacetate dehalogenases (FAcDs). By challenging E. coli populations that produce diverse FAcD libraries to grow on non‐natural organofluorides as their sole carbon source, we isolated a panel of FAcD variants with improved activity and altered substrate specificity.
Suzanne C. Jansen, Pauline van Beers, Clemens Mayer   +2 more
wiley   +2 more sources

Systematic review and network meta-analysis of outcomes of transcatheter strategies and surgical shunts for treatment of duct-dependent cyanotic congenital heart disease

Frontiers in Cardiovascular Medicine
IntroductionCyanotic congenital heart disease with duct-dependent pulmonary blood flow requires initial palliation before definitive repair. Traditionally, these were surgical systemic-to-pulmonary shunts (SPS) such as the modified Blalock-Taussig-Thomas
Qiao Zhi Chee, Santosi Buvaneswarran, Santosi Buvaneswarran, Ching Kit Chen, Ching Kit Chen, Liang Shen, Swee Chye Quek, Swee Chye Quek   +7 more
doaj   +1 more source

Mesoatrial Shunt

, 1978
John L. Cameron, Willis C. Maddrey
openalex   +2 more sources

KDM2B‐Related Neurodevelopmental Disorder A Case‐Series Supporting the CxxC Domain Phenotype With Emphasis on Ocular and Dermatologic Features

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The KDM2B‐related neurodevelopmental disorder is a recently identified Mendelian disorder of the epigenetic machinery associated with pathogenic variants in KDM2B. Global developmental delay, intellectual disability, congenital anomalies, and systemic manifestations characterize the disorder.
Adriana Gomes, Álvaro Martín‐Rodríguez, Miguel Del Campo, Lynne M. Bird   +3 more
wiley   +1 more source

Outcome of endoscopic third ventriculostomy and Chhabra shunt system in noncommunicating non-tumor childhood hydrocephalus

, 2009
Olufemi Emmanuel Idowu, LO Falope, A T Idowu   +2 more
openalex   +2 more sources

03:36 PM Abstract No. 106 Final results of a prospective study of lung shunt fraction as related to chemoembolization outcomes and predictors of lung shunt fraction [PDF]

, 2019
S. Arndt, Tyler Sandow, J. Gimenez, Vijay Ramalingam, Paul Gilbert, P. Gulotta   +5 more
openalex   +1 more source

Ventriculoperitoneal shunt insertion in human immunodeficiency virus infected adults: a systematic review and meta-analysis [PDF]

, 2020
James JM Loan, Michael T. C. Poon, Steven Tominey, Ncedile Mankahla, Graeme Meintjes, Graham Fieggen   +5 more
openalex   +1 more source

Marfan Syndrome Associated With Intellectual Disability and Behavioral Anomalies: Further Evidence for the Effect of Compound Heterozygous Variants in FBN1 on Phenotypic Severity

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Marfan syndrome (MFS) is a rare connective tissue disorder characterized by involvement of the cardiovascular, ocular, and musculoskeletal systems. Pathogenic variants in FBN1 cause most of the MFS cases; however, intellectual disability (ID) is rarely observed. A non‐consanguineous Pakistani family with four affected individuals was recruited.
Azmatullah Khan, Naseebullah Kakar, Ainullah Kakar, Malte Spielmann, Sajid Malik   +4 more
wiley   +1 more source

Expanding the Genotype–Phenotype Correlation of Marden–Walker Syndrome due to PIEZO2 Gene Variants: A Case Report From Brazil

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Marden–Walker syndrome (MWS; OMIM 248700) is an extremely rare congenital disorder characterized by multiple joint contractures, craniofacial dysmorphism, neurological abnormalities, and multisystem involvement. Although historically diagnosed on clinical grounds, only a few cases have been molecularly confirmed.
Guilherme Sotto Battiston, Carolina de Souza Araujo, Fernanda Araujo Romera, André Luis Ferreira, Érica Trovisco Martins, Carolina Galhós de Aguiar, José Eduardo Mourão Santos, Rodrigo Ragazzini, Daniela Testoni Costa‐Nobre, Ana Claudia Yoshikumi Prestes, Allan Chiaratti de Oliveira, Eduardo Perrone, Débora Gusmão Melo, Anne Caroline Barbosa Teixeira, Antonio Victor Campos Coelho, Caio Robledo D’Angioli Costa Quaio, Carolina Araujo Moreno, Eduardo Perrone, Jose Bandeira do Nascimento Junior, Jessica Grasiela Araujo Espolaor, Joana Rosa Marques Prota, Joao Bosco de Oliveira Filho, Jose Ricardo Magliocco Ceroni, Kelin Chen, Letícia Torres Ferreira, Lucas Santos de Santana, Luciana Souto Mofatto, Luiza do Amaral Virmond, Marina de Franca Basto Silva, Michele Patricia Migliavacca, Renata Moldenhauer Minillo, Renata Yoshiko Yamada, Roberta Sitnik, Tatiana Ferreira de Almeida, Thiago Yoshinaga Tonholo Silva, Vivian Pedigone Cintra   +35 more
wiley   +1 more source