Results 201 to 210 of about 883,556 (350)

First Korean Case of 5q35.2q35.3 Microduplication With Reversed Sotos Syndrome Phenotype and Growth Hormone Deficiency: Expanding the Endocrine Spectrum

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Sotos syndrome is an overgrowth disorder caused by nuclear receptor binding SET domain protein 1 (NSD1) haploinsufficiency, whereas reciprocal 5q35.2q35.3 microduplication produces a reversed phenotype with growth retardation, microcephaly, delayed bone age, and neurodevelopmental delay.
Sejin Kim, Jung Sook Ha, Jun Chul Byun
wiley   +1 more source

A proof of concept study on the diagnostic utility of in vivo expressed mycobacterial transcripts in tuberculous pleuritis. [PDF]

Sci Rep
Kaur P, Sharma S, Abhishek S, Aggarwal AN, Kaur K, Yadav R, Sethi S, Bal A, Verma I.   +8 more
europepmc   +1 more source

Differentiating the Clinical and Variant Spectrum of Hardikar Syndrome From Other MED12‐Related Developmental Disorders

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The rare X‐linked female‐restricted Hardikar syndrome (HDKR, OMIM # 301068) is characterized by multiple congenital anomalies including orofacial clefts, gastrointestinal, genitourinary, and cardiac anomalies, but cognitive and neurobehavioral development is rarely impaired.
Tinne Warmoeskerken, Miel Theunis, Kris Van den Bogaert, Koenraad Devriendt, Jeroen Breckpot   +4 more
wiley   +1 more source

Establishment and Application of a Novel Protein Microarray for Serological Detection and Differentiation of Senecavirus A. [PDF]

Transbound Emerg Dis
Li D, Deng J, Wang Z, Zhang Y, Li Y, Hao L, Tian K, Li X.   +7 more
europepmc   +1 more source

Genesis: cluster analysis of microarray data

Bioinform., 2002
A. Sturn, John Quackenbush, Z. Trajanoski   +2 more
semanticscholar   +1 more source

Case Report With Biallelic Variants in GCNT2 Implicates Exon 1B in Congenital Cataracts

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT GCNT2‐related cataracts is a disorder characterized by bilateral congenital cataracts (CC) of various types (with or without the adult i blood phenotype) and is caused by biallelic variants in GCNT2, which has 3 major isoforms, differentiated by alternative splicing of the first exon (known as exon 1A, B, and C).
Audrey O'Neill, Cindy Bayer, Emily McQuillen, Erica D. Smith, Meghan Towne, Dallas Reed   +5 more
wiley   +1 more source

Concordance between different methods of detecting fungal-specific IgE antibody in asthma. [PDF]

Front Allergy
Shifani N, Denning DW.
europepmc   +1 more source

[Tissue microarrays].

Pathologica, 2005
Lattanzio, R, Lasorda, R, Alberti, S, Piantelli, M   +3 more
openaire   +3 more sources

Combined Long‐Read Genome and Transcriptome Sequencing Establishes Novel Variants in MEGF8 as the Cause for Carpenter Syndrome Type 2

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Carpenter syndrome type 2 (CRPT2) is a rare autosomal recessive disease mainly characterized by craniosynostosis and polysyndactyly. CRPT2 is the rarer subtype of Carpenter syndrome (CRPTS) and is caused by biallelic variants in the multiple epidermal growth factor‐like domains 8 gene (MEGF8).
Kiana Rashidi, Bhavi P. Modi, Phillip A. Richmond, Massimo Mangino, Loryn Byres, Cassie McDonald, Joshua Dalmann, Simran Samra, Kate L. Del Bel, Anna Lehman, Jessica L. Zambonin, Stuart E. Turvey   +11 more
wiley   +1 more source

Modern wITCHcraft: Conjuring pruritus-associated gene signatures through microarray profiling. [PDF]

J Eur Acad Dermatol Venereol
Mueller SM.
europepmc   +1 more source