Results 171 to 180 of about 137,449 (345)

From Multiple Congenital Anomalies to Pituitary Gland Malformation: Wide Spectrum of Clinical Features in a Family With FOXA2 Variant

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT FOXA2 (hepatocyte nuclear factor‐3β, HNF‐3β) encodes a transcriptional activator involved in early embryogenesis, particularly in the patterning and differentiation of midline structures such as the neural tube, foregut, and pituitary gland. Its role in human pathogenesis was first suspected when patients with deletion of chromosome 20p11.2 ...
Christopher Connolly, Hemant A. Parmar, Lauren Hipp, Tomoyasu Higashimoto   +3 more
wiley   +1 more source

Ataxia-Telangiectasia Mutated Loss of Heterozygosity in Melanoma. [PDF]

Int J Mol Sci, 2022
Pastorino L, Dalmasso B, Allavena E, Vanni I, Ugolini F, Baroni G, Croce M, Guadagno A, Cabiddu F, Andreotti V, Bruno W, Zoppoli G, Ferrando L, Tanda ET, Spagnolo F, Menin C, Gangemi R, Massi D, Ghiorzo P.   +18 more
europepmc   +1 more source

Loss of Heterozygosity of FCY2 Leading to the Development of Flucytosine Resistance in Candida tropicalis

, 2011
Yen-Ning Chen, Hsiu‐Jung Lo, C.-J. Wu, Hui-Ching Ko, Te-Pin Chang, Yun-Liang Yang   +5 more
openalex   +2 more sources

Loss of Heterozygosity on Chromosome 19 in Secondary Glioblastomas [PDF]

, 2000
Mitsutoshi Nakamura, Fan Yang, Hironori Fujisawa, Yasuhiro Yonekawa, Paul Kleihues, Hiroko Ohgaki   +5 more
openalex   +1 more source

Single-nucleus DNA sequencing reveals hidden somatic loss-of-heterozygosity in Cerebral Cavernous Malformations. [PDF]

Nat Commun, 2023
Ressler AK, Snellings DA, Girard R, Gallione CJ, Lightle R, Allen AS, Awad IA, Marchuk DA.   +7 more
europepmc   +1 more source

Topical Application of a Mucoadhesive Freeze-Dried Black Raspberry Gel Induces Clinical and Histologic Regression and Reduces Loss of Heterozygosity Events in Premalignant Oral Intraepithelial Lesions: Results from a Multicentered, Placebo-Controlled Clinical Trial

, 2020
Gary D. Stoner, Brian S. Shumway, Brian Han, Aaron M. Vickers, Susan R. Mallery, Ping Pei, George M. Kushner, Kelly S. Kennedy, Gregory M. Ness, Alice E. Curran, Meng Tong, George H. Blakey, Peter E. Larsen   +12 more
openalex   +1 more source

Relative Exchangeable Copper Confirms Wilson Disease and Supports Reclassification of the ATP7B p.Met665Ile Variant With Conflicting Pathogenicity Evidence

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Wilson disease (WD) is an autosomal recessive disorder of copper metabolism caused by ATP7B mutations. Diagnosis is usually straightforward in symptomatic patients, but can be challenging in children and adolescents with mild liver disease, borderline urinary copper excretion, or inconclusive genetic findings.
Emanuele Nicastro, Caterina Zuccoli, Roberto Marozzi, Antonino Barletta, Lisa Licini, Paola Tebaldi, Valeria Casotti, Mariangela Stinco, Lidia Pezzani, Maria Iascone, Lorenzo D'Antiga   +10 more
wiley   +1 more source

Absence of PRKAR1A loss of heterozygosity in laser-captured microdissected pigmented nodular adrenocortical tissue from a patient with Carney complex caused by the novel nonsense mutation p.Y21X [PDF]

, 2008
Madson Q. Almeida, Luciana Pinto Brito, Sorahia Domenice, Márcia Helena Soares Costa, Emília M. Pinto, Cynthia Aparecida Bueno de Toledo Osório, Ana Cláudia Latronico, Berenice B. Mendonça, Maria Candida Barisson Villares Fragoso   +8 more
openalex   +1 more source

Supplementary Figure S2 from Combined Total Genome Loss of Heterozygosity Scan of Breast Cancer Stroma and Epithelium Reveals Multiplicity of Stromal Targets

, 2023
Koichi Fukino, Lei Shen, Satoshi Matsumoto, Quaid Morris, George L. Mutter, Charis Eng   +5 more
openalex   +1 more source

Optimizing Diagnostic Accuracy of Clinical Red Flags in RASopathies

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT RASopathies are a group of genetic disorders caused by pathogenic variants in the RAS‐mitogen‐activated protein kinase (RAS–MAPK) signaling pathway, often presenting with congenital heart defects, craniofacial dysmorphisms, and developmental delays. To assess the diagnostic yield of genetic testing in patients with suspected RASopathies and to
Emanuele Bobbio, Martina Caiazza, Emanuele Monda, Giustina Aruta, Alberto Budillon, Augusto Esposito, Adelaide Fusco, Annapaola Cirillo, Marta Rubino, Immacolata Viscovo, Gioacchino Scarano, Matteo Della Monica, Vincenzo Nigro, Giulio Piluso, Leandro Pecchia, Maria Giovanna Russo, Giuseppe Limongelli   +16 more
wiley   +1 more source