Results 181 to 190 of about 137,449 (345)

Large proportion of low frequency microsatellite-instability and loss of heterozygosity in pheochromocytoma and endocrine tumors detected with an extended marker panel

, 2007
Susan Kupka, Birgit Haack, Marty Zdichavsky, Tanja Mlinar, Christine Kienzle, C.–Thomas Bock, Reinhard Kandolf, Stefan-Martin Kroeber, Alfred Königsrainer   +8 more
openalex   +2 more sources

Loss of Heterozygosity and Microsatellite Instability Are Rare in Sporadic Dedifferentiated Liposarcoma: A Study of 43 Well-Characterized Cases [PDF]

, 2014
Jessica L. Davis, James P. Grenert, Andrew Horvai   +2 more
openalex   +1 more source

Supplementary Figure 4 from Recurrent Focal Copy-Number Changes and Loss of Heterozygosity Implicate Two Noncoding RNAs and One Tumor Suppressor Gene at Chromosome 3q13.31 in Osteosarcoma

, 2023
Ivan Pašić, Adam Shlien, Adam D. Durbin, Dimitrios J. Stavropoulos, Berivan Baskin, Peter N. Ray, Ana Novokmet, David Malkin   +7 more
openalex   +1 more source

Loss of heterozygosity in pseudoexfoliation syndrome.

Investigative ophthalmology & visual science, 1999
Pseudoexfoliation (PEX) syndrome is characterized by the accumulation of a material of unknown origin in the anterior structures of the eye. Loss of heterozygosity (LOH) in a genetic locus indicates the presence of a gene located in the same region that could be implicated in the development or the progression of a disease.
V P, Kozobolis, E T, Detorakis, G, Sourvinos, I G, Pallikaris, D A, Spandidos   +4 more
openaire   +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

Evolution of loss of heterozygosity patterns in hybrid genomes of Candida yeast pathogens. [PDF]

BMC Biol, 2023
Mixão V, Nunez-Rodriguez JC, Del Olmo V, Ksiezopolska E, Saus E, Boekhout T, Gacser A, Gabaldón T.   +7 more
europepmc   +1 more source

Supplementary Table 1 from High-throughput Loss-of-Heterozygosity Study of Chromosome 3p in Lung Cancer Using Single-Nucleotide Polymorphism Markers [PDF]

, 2023
Amy L.S. Tai, William C. K. Mak, Phoebe K.M. Ng, Daniel Chua, Mandy Ng, Li Fu, Kevin Chu, Fang Yan, You‐Qiang Song, Muhan Chen, Minyue Zhang, Pak C. Sham, Xin‐Yuan Guan   +12 more
openalex   +1 more source

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

Improved genotype inference reveals cis- and trans-driven variation in the loss-of-heterozygosity rates in yeast. [PDF]

Genetics
Overton MS, Kryazhimskiy S.
europepmc   +1 more source

Epigenetic loss of heterozygosity of Apc and an inflammation-associated mutational signature detected in Lrig1 ^+/- -driven murine colonic adenomas [PDF]

, 2019
Jessica Preston
openalex   +1 more source