Results 201 to 210 of about 137,449 (345)

Gain and Loss of Heterozygosity in the Genome of the Asexual Nematode Halicephalobus mephisto. [PDF]

J Mol Evol
Amini A, Bracht JR.
europepmc   +1 more source

Pleomorphic Carcinoma of the Lung Associated with Loss of Heterozygosity of p53 Gene

, 2005
Norimasa Arita, Yoshiki Mikami, Minako Yoshida, Ichiro Konishi, Norio Horiike, Katsutoshi Miyauchi, Tatsuhiko Miyazaki, Masato Nose, Masao Ono   +8 more
openalex   +2 more sources

De Novo Complex Genomic Rearrangement Spanning 2q31.1 in a Proband With Congenital Malformations: Genotype–Phenotype Correlation and Development of a CGR Detection Pipeline

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The 2q31 region is commonly associated with pathogenic alleles of the HOXD cluster leading to various clinical phenotypes related to skeletal development. We present a proband with tetralogy of Fallot and multiple congenital anomalies. Genomic variant screening including an in‐house CGR detection pipeline pairing genome sequencing (GS ...
Katherine Helle, Jesse D. Bengtsson, Mira Gandhi, Christopher M. Grochowski, Ming Yin Lun, Neha Sudhir, Shalini N. Jhangiani, Fritz J. Sedlazeck, Seema R. Lalani, Neil A. Hanchard, Claudia M. B. Carvalho   +10 more
wiley   +1 more source

Clinical and biological characteristics associated with loss-of-heterozygosity in endometrial cancer. [PDF]

J Gynecol Oncol
Blanc-Durand F, Rouleau E, Pautier P, Ngoi N, Lim YW, Lim SE, Leary A, Tan DS.   +7 more
europepmc   +1 more source

Loss of heterozygosity does not occur in BRCA1/2 mutant pediatric solid and central nervous system tumors. [PDF]

Pediatr Blood Cancer, 2023
Groves A, Ward A, Li YY, Lazo de la Vega L, Nag A, Forrest SJ, Gupta HV, Thorner AR, Meyerson M, Kamihara J, Cherniack AD, Janeway KA.   +11 more
europepmc   +1 more source

Quantitative evaluation of genomic instability as a possible predictor for development of hepatocellular carcinoma: Comparison of loss of heterozygosity and replication error [PDF]

, 2000
Hirokazu Kawai, Takeshi Suda, Yutaka Aoyagi, Osamu Isokawa, Yusaku Mita, Nobuo Waguri, Takashi Kuroiwa, Masato Igarashi, Kazuhiro Tsukada, Shigeki Mori, Takeaki Shimizu, Yasufumi Suzuki, Yoichi Abe, Toru Takahashi, Minoru Nomoto, Hitoshi Asakura   +15 more
openalex   +1 more source

Long‐Term Follow Up of Two Patients With Variants in the Cluster 1031‐1159 of TRRAP Gene: Expanding the Phenotype of Developmental Delay With or Without Dysmorphic Facies and Autism

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The transformation/transcription domain‐associated protein (TRRAP) gene encodes a large multidomain protein, a member of the phosphatidylinositol 3‐kinase‐related kinase (PIKK) family. TRRAP is a component of the histone acetyltransferase (HAT) complex, and it plays an important role in gene transcription, DNA repair, and cell‐cycle regulation.
Roseli Maria Zechi‐Ceide, Vinicius Contrucci Dantas Segarra, Siulan Vendramini‐Pittoli, Henrique Regonaschi Serigatto, Luiza Virmond, Heloisa Marcelina da Cunha Palhares, Fernanda Jehee, Ana Cristina Victorino Krepischi, Carla Rosenberg, Carlos Henrique Paiva Grangeiro, Nancy Mizue Kokitsu‐Nakata   +10 more
wiley   +1 more source

Supplementary Figure 2 from <i>KRAS</i> Loss of Heterozygosity Promotes MAPK-Dependent Pancreatic Ductal Adenocarcinoma Initiation and Induces Therapeutic Sensitivity to MEK Inhibition [PDF]

Sigrid K. Fey, Arafath K. Najumudeen, Dale M. Watt, Laura M. Millett, Catriona A. Ford, Kathryn Gilroy, Robert U. Simpson, Kathy McLay, Rosanna Upstill‐Goddard, David K. Chang, William Clark, Colin Nixon, Joanna L. Birch, Simon T. Barry, Jennifer P. Morton, Andrew D. Campbell, Owen J. Sansom   +16 more
openalex   +1 more source

Expanding the Phenotype of TAB2‐Related Syndrome: The First Case With Cleft Palate and Insights Into Palatal Development

American Journal of Medical Genetics Part A, EarlyView.
Alberto De Rosa, Silvia Kalantari, Marta Carboni, Antonella Casella, Elisa Giorgio, Antonia Apicella, Alessia Claudia Codazzi, Fabio Sirchia   +7 more
wiley   +1 more source

Targeted Anti‐IL‐1 Immunomodulatory Therapy in Pediatric Onset PPP1R13L‐Related Arrhythmogenic Cardiomyopathy

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autosomal recessive loss‐of‐function variants in PPP1R13L cause an ultra‐rare cardiocutaneous syndrome characterized by rapidly progressive arrhythmogenic cardiomyopathy (ACM). PPP1R13L encodes iASPP, which has two potentially overlapping mechanisms driving ACM as both a regulator of NFκB‐mediated inflammation and a binding partner within the ...
Aaron Renberg, Savannah Coppersmith, Owen Merritt, Amer Heider, Adam Helms, Thomas Michniacki, Jack Luxford, Sarah Josephi‐Taylor, Philip Roberts, Joshua Meisner   +9 more
wiley   +1 more source