Results 71 to 80 of about 2,841 (212)

Genetic Testing Utilization in the U.S. Registry for Childhood Interstitial and Diffuse Lung Diseases

Pediatric Pulmonology, Volume 60, Issue 4, April 2025.
ABSTRACT Introduction Childhood interstitial and diffuse lung diseases (chILD) comprise a diverse group of rare disorders. Identifying the underlying cause is crucial for treatment, prognosis, and estimating recurrence risk. The objective of this study was to assess the utilization of genetic testing for subjects enrolled in the United States National ...
Laura A. Voss, Rebekah J. Nevel, Jennifer A. Wambach, Lawrence M. Nogee, Robin R. Deterding, Alicia M. Casey, Michael G. O'Connor, Daniel I. Craven, Jane B. Taylor, Gail H. Deutsch, Jade B. Tam‐Williams, Lea C. Steffes, Steven K. Brennan, Maria T. Santiago, Sara C. Sadreameli, Andrea F. Heras, Michael R. Powers, Antonia P. Popova, Manvi Bansal, Aaron Hamvas, William A. Gower, Fernando Urrego, Lisa R. Young, for The ChILD Registry Collaborative   +23 more
wiley   +1 more source

Recreating the missing smile: A case report on ectodermal dysplasia

SRM Journal of Research in Dental Sciences, 2012
Ectodermal dysplasia syndrome is a group of hereditary disorders affecting the structures developing from the ectoderm. More than 150 different types have been described with the most common being the hypohidrotic and the hidrotic types.
R Shakila, L Jeevanandam, S K Jagdish, V R Arun Kumar   +3 more
doaj   +1 more source

The pathophysiology of meibomian gland dysfunction related ocular surface diseases and the molecular mechanism [PDF]

, 2016
第一部分：睑板腺功能障碍诱导的小鼠干眼动物模型的建立 目的：睑板腺功能障碍（MGD）是引起蒸发过强型干眼最常见的病因，但是MGD引起的眼表面病变的病理生理过程目前还知之甚少。本研究的主要目的是建立蒸发过强型干眼的动物模型，并观察该类型干眼的眼表病理变化过程。 方法：用裂隙灯显微镜观察外异蛋白基因（EctodysplasinA，EDA)突变鼠（Tabby鼠）的眼表病变过程，用荧光素钠染色方法检测Tabby鼠的角膜上皮缺损状况，用酚红棉线检测小鼠的水性泪液分泌，对角膜和眼睑进行H&E染色和油红染色 ...
李三明
core  

Eda haplotypes in three-spined stickleback are associated with variation in immune gene expression [PDF]

, 2017
Haplotypes underlying local adaptation and speciation are predicted to have numerous phenotypic effects, but few genes involved have been identified, with much work to date concentrating on visible, morphological, phenotypes.
A El Nagar, A Smahi, A Zapata, A-L Ducrest, ADC MacColl, ADC MacColl, AK Greenwood, C Cluzeau, C Eizaguirre, C Eizaguirre, C Lexer, CR Linnen, CR Linnen, D Schluter, DJ Rennison, DQ Tran, DV Chan, F Mackay, FC Jones, FC Jones, G Rauch, J De Roij, JP Scharsack, JSC Arthur, KB Marchinko, M Hammer, M Probst-Kepper, MA Bell, MG Mills, MW Pfaffl, NH Barton, O Seehausen, P Brassard, P Nosil, PF Colosimo, PF Colosimo, R Hopkins, RD Barrett, RD Barrett, RD Reed, RDH Barrett, S Robertson, S Robertson, S Wisniewski, S Yeaman, SE Johnston, SE Johnston, SF Owen, T Henrich, TJ Little, Y Sun   +50 more
core   +2 more sources

[Hypohidrotic ectodermal dysplasia].

La Pediatria medica e chirurgica : Medical and surgical pediatrics, 1988
The authors report a case of Hypohidrotic ectodermal dysplasia (Christ-Siemens-Touraine syndrome). Diagnosed at the age of 2 months.
M, Strano, V, Franchini, A, Santini, L, Giannone, M, Terni, M E, Martinucci, C, Calandi   +6 more
openaire   +1 more source

Associations and outcomes of prenatally detected rhombencephalosynapsis

Prenatal Diagnosis, Volume 44, Issue 10, Page 1159-1169, September 2024.
Abstract Objective To describe the association between prenatal imaging and neurodevelopmental outcomes of fetuses with rhombencephalosynapsis (RES). Study design Thirty‐four pregnancies complicated by RES were identified from our institutional databases based on US and/or MRI findings. Genetic testing results were gathered.
Yada Kunpalin, Elka Miller, Kamini Raghuram, Patrick Shannon, Yael Fisher, Vann Chau, Ants Toi, David Chitayat, Susan Blaser, Shiri Shinar   +9 more
wiley   +1 more source

Frequency estimation of disease-causing mutations in the Belgian population of some dog breeds, part 1 : shepherds [PDF]

, 2016
In light of improving breeding advice, the frequency was estimated for all the disease-causing mutations that were known at the start of the study and that are potentially relevant for a group of dog breeds, which are relatively popular or in which the ...
Beckers, Evy, Peelman, Luc, Ronsyn, L, Van Poucke, Mario   +3 more
core   +1 more source

Myeloid deletion of nemo causes osteopetrosis in mice owing to upregulation of transcriptional repressors [PDF]

, 2016
The transcription factor NF-κB is central to numerous physiologic processes including bone development, and its activation is controlled by IKKγ (also called NEMO), the regulatory subunit of IKK complex.
Abu-Amer, Yousef, Chen, Hung-Po (Tim), Mbalaviele, Gabriel, Nasir, Amjad M, Seehra, Kuljeet, Shim, Kyuhwan, Swarnkar, Gaurav   +6 more
core   +2 more sources

The face of Non‐photosensitive trichothiodystrophy phenotypic spectrum: A subsequent study on paediatric population

Molecular Genetics &Genomic Medicine, Volume 12, Issue 8, August 2024.
This is a novel study regarding the facial features of paediatric patients with the Non‐photosensitive TTD clinical spectrum. Abstract Background Non‐photosensitive trichothiodystrophies (TTDs) are a diverse group of genodermatoses within the subset of conditions known as “sulphur‐deficient brittle hair” syndromes. A part of them has only recently been
Giulia Pascolini, Martina Lipari, Federica Gaudioso, Luca Fania, Giovanni Di Zenzo, Biagio Didona   +5 more
wiley   +1 more source

A Rare Case of Hypohidrotic Ectodermal Dysplasia

Journal of Clinical and Biomedical Sciences
A wide range of hereditary diseases affecting two or more ectodermally derived tissues together are referred to as ectodermal dysplasias (EDs). The most frequently impacted ectodermal derivatives are the teeth, nails, sweat glands, and hair.
Hariharasubramanian M, Rajashekar T S, Suresh Kumar K, Hanumanthayya K   +3 more
doaj   +1 more source