Results 291 to 300 of about 659,780 (372)

Mortality Patterns and Phenotypic Clusters in Trisomy 13: A Population‐Based Study From Japan

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Trisomy 13, the third most common autosomal trisomy after trisomy 21 and trisomy 18, is associated with a significantly high infant mortality rate. However, large‐scale studies examining causes of death in trisomy 13 remain scarce. Therefore, we aimed to better understand the mortality patterns.
Narumi Kato, Naho Morisaki, Akinori Moriichi   +2 more
wiley   +1 more source

Correction to: Effectiveness and Safety of Tezepelumab in a Diverse Population of US Patients with Severe Asthma: Initial Results of the PASSAGE Study. [PDF]

Adv Ther
Lugogo NL, Akuthota P, Sumino K, Mathur SK, Burnette AF, Lindsley AW, Llanos JP, Marchese C, Ambrose CS, Emmanuel B.   +9 more
europepmc   +1 more source

A Confirmatory Case of Severe Spondylocostal Dysostosis Caused by Biallelic Loss‐of‐Function of DMRT2

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Spondylocostal dysostosis (SCDO) is a rare genetic disorder characterized by abnormal development of the axial skeleton, resulting in malformations of the vertebrae and ribs that often impair lung development and lead to significant respiratory morbidity.
Jonathan Rips, Hagar Mor‐Shaked, Oded Shamriz, Raz Somech, Rawan Abu Omar, Smadar Eventov‐Friedman, Noa Ofek‐Shlomai, Dvorah Zaguer, Tamar Harel   +8 more
wiley   +1 more source

Pulmonary hyalinizing granuloma presenting with mixed imaging features in CT and FDG PET: A case report. [PDF]

Radiol Case Rep
Hijikata Y, Nobashi TW, Sakamoto R, Ikezoe K, Handa T, Menju T, Otsuki S, Katsuragawa H, Tsuji K, Nakamoto Y.   +9 more
europepmc   +1 more source

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

Activation and proliferation profiles of M.tuberculosis specific dual functional CD4+T cells from smear negative pulmonary TB patients. [PDF]

PLoS One
Esmael A, Mihret A, Abebe T, Mussa D, Neway S, Ernst J, Rengarajan J, Wassie L, Howe R.   +8 more
europepmc   +1 more source

Management of Cardiovascular Health Issues in Turner Syndrome: Expert Insights and Expanded Recommendations From the 2024 Guideline Development Team

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Turner syndrome (TS) is frequently complicated by congenital heart disease (CHD). While left‐sided lesions such as bicuspid aortic valve (BAV) and coarctation of the aorta are the most common structural heart lesions in TS, other anomalies, such as aortic arch malformations, hypoplastic left heart syndrome (HLHS), persistent left superior vena
Katya de Groote, Sheetal R. Patel, Kristian Havmand Mortensen, Isabel Witvrouwen, Anthonie Duijnhouwer, Nicole M. Brown, Jasmine Grewal, Kathryn C. Chatfield, Aaron T. Dorfman, Siddharth K. Prakash   +9 more
wiley   +1 more source

Impulse oscillometry for the detection of small airway dysfunction in patients with chronic respiratory symptoms, preserved ratio impaired spirometry and COPD. [PDF]

BMC Pulm Med
Gong X, Sang L, Huang Y, Wang H, Sun J.
europepmc   +1 more source

Dupilumab Initiation for Surgically Refractory Chronic Rhinosinusitis With Nasal Polyps Is Associated With Differential Expression of CLC and Activation of Eicosanoid Pathways

International Forum of Allergy &Rhinology, EarlyView.
Key Points An untargeted transcriptomic analysis provided exploratory insight into key genes and pathways that can be used to help identify patients at risk for surgically refractory chronic rhinosinusitis with nasal polyps (CRSwNP). The Charcot–Leyden crystal gene, periostin and osteopontin‐associated pathways, eicosanoid synthesis pathway, and ...
Christina Dorismond, Rory J. Lubner, Daniel H. Lofgren, Chandler J. Rygalski, Ping Li, Katherine N. Cahill, Suman R. Das, Mason R. Krysinski, Rakesh K. Chandra, Justin H. Turner, Naweed I. Chowdhury   +10 more
wiley   +1 more source

MCV/Q, Medical College of Virginia Quarterly, Vol. 15 No. 3 [PDF]

, 1979

core   +1 more source