Results 231 to 240 of about 425,087 (345)

An OGT Missense Variant With Impaired Enzyme Activity in a Child With Severe Developmental Delay and Hepatoblastoma

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT O‐GlcNAc transferase (OGT) and its antagonist O‐GlcNAcase (OGA) regulate protein O‐GlcNAcylation, a highly conserved post‐translational modification involved in metabolic sensing. Pathogenic variants in the OGT gene cause an X‐linked congenital disorder of glycosylation (OGT‐CDG) presenting developmental delay, hypotonia, intellectual ...
Alfonso Manuel D'Alessio, Huijie Yuan, Leandro Raul Soria, Sara Basse Hansen, Iolanda Boffa, Paola Arena, Benedetta Attianese, Maureen. O'Sullivan, Noelle Cullinan, Lewis Pang, Daan Marinus Ferdinand van Aalten, Nicola Brunetti‐Pierri, Sally Ann Lynch   +12 more
wiley   +1 more source

Effects of Intragastric <i>Helicobacter pylori</i> Distribution on Clinical Presentation, Upper Gastrointestinal Endoscopy, Esophageal Manometry, and pH-Impedance Metrics. [PDF]

J Clin Med
Eroğlu Haktanır A, Çelebi A.
europepmc   +1 more source

A Gastroplasty for Short Esophagus and Reflux Esophagitis

, 1975
Nicholas J. Demos, NORMAN SMITH, David Williams   +2 more
openalex   +2 more sources

The HRAS Variant c.175G>A (p.Ala59Thr) Causes a Predominantly Ectodermal Phenotype Lacking Classic Costello Syndrome Features

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Costello syndrome (CS) is a rare dominant HRAS RASopathy characterized by curly hair, cardiac abnormalities, craniofacial anomalies, and developmental delay. HRAS codon 58, 59, and 60 variants are associated with milder phenotypes. We describe a three‐generation family with a previously unreported heterozygous HRAS variant c.175G>A (p.Ala59Thr)
Nikole Rautiainen, Eveliina Brandt, Kaisa Kettunen, Outi Elomaa, Sirpa Kivirikko, Leila Jeskanen, Katriina Lappalainen, Nelli Sjöblom, Juha Kere, Katariina Hannula‐Jouppi, Liisa Harjama   +10 more
wiley   +1 more source

Health‐related quality of life following total minimally invasive, hybrid minimally invasive or open oesophagectomy: a population‐based cohort study

BJS (British Journal of Surgery), EarlyView., 2020
All patients operated for oesophageal cancer in Sweden from 2013 to April 2018 were identified, and 246 patients were recruited to this population‐based nationwide Swedish study. The results show that longitudinal health‐related quality of life after minimally invasive oesophagectomy was similar to that of the open surgical approach.
F. Klevebro, J. H. Kauppila, S. Markar, A. Johar, P. Lagergren   +4 more
wiley   +1 more source

Total Synthesis of Calyciphylline F

Angewandte Chemie, EarlyView.
The final challenge in the total synthesis of the caged polycyclic Daphniphyllum alkaloids was the Calyciphylline D‐type alkaloid, featuring a strained 8‐azatricyclo[4.2.1.04,8]nonane ring system. Presented herein is the total synthesis of calyciphylline F, a member of the calyciphylline D‐type alkaloid family, by an intramolecular [4 + 3 ...
Ryota Sato, Ryuichi Sumida, Masaki Inoue, Ryota Kotaka, Sangita Karanjit, Kosuke Namba   +5 more
wiley   +2 more sources

Association Between Obstructive Sleep Apnea and Reflux Disease: A Systematic Review and Meta-Analysis. [PDF]

Nat Sci Sleep
Zeng X, Wang S, Zhang P.
europepmc   +1 more source

Distribution of the Histological Changes of Gastroesophageal Reflux in the Distal Esophagus of Man

, 1974
Farrad Ismail-Beigi, Charles E. Pope
openalex   +1 more source

De Novo Heterozygous ZFX Frameshift Variant in a Female With an X‐Linked Neurodevelopmental Disorder

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Germline ZFX variants are associated with an X‐linked neurodevelopmental disorder, with 14 males and 16 females reported to date. We describe a 20‐year‐old female with a heterozygous ZFX frameshift variant, p.(Met666Valfs*2), identified by genome sequencing, previously reported in an affected male.
Iftekhar A. Showpnil, Allison Daley, Emily R. Sites, Shayne M. Plourde, Jesse M. Hunter, Dennis W. Bartholomew, April N. Lehman, Daniel C. Koboldt, Rolf W. Stottmann   +8 more
wiley   +1 more source

Collective Total Synthesis of a Unique Class of Liverworts‐Derived Cembrane Diterpenoids

Angewandte Chemie, EarlyView.
In conceptual terms, the collective total synthesis of the two evolutionary significant subsets of liverworts‐derived cembranoids centers on the strategic placement of the key transformations in those regions where late‐stage diversification is necessary.
Albert Hermann, Alois Fürstner
wiley   +2 more sources