Results 121 to 130 of about 183,311 (355)

Whole‐exome sequencing as a diagnostic tool for distal renal tubular acidosis

Jornal de Pediatria (Versão em Português), 2015
Objective: Distal renal tubular acidosis (dRTA) is characterized by metabolic acidosis due to impaired renal acid excretion. The aim of this study was to demonstrate the genetic diagnosis of four children with dRTA through use of whole‐exome sequencing ...
Paula Cristina Barros Pereira, Flávia Medeiros Melo, Luiz Armando Cunha De Marco, Eduardo Araújo Oliveira, Débora Marques Miranda, Ana Cristina Simões e Silva   +5 more
doaj   +1 more source

A case report and genetic characterization of a massive acinic cell carcinoma of the parotid with delayed distant metastases. [PDF]

, 2013
We describe the presentation, management, and clinical outcome of a massive acinic cell carcinoma of the parotid gland. The primary tumor and blood underwent exome sequencing which revealed deletions in CDKN2A as well as PPP1R13B, which induces p53.
Agrawal, Sumit K, Barrett, John W, Boutros, Paul C, Chan-Seng-Yue, Michelle, Dowthwaite, Samuel A, Fung, Kevin, Harding, Nicholas J, Koropatnick, James, Lambin, Philippe, Macneil, S Danielle, Mymryk, Joe S, Nichols, Anthony C, Palma, David A, Starmans, Maud HW, Waggott, Daryl, Wehrli, Bret, Winquist, Eric, Yoo, John   +17 more
core   +3 more sources

Prioritizing disease-causing metabolic genes by integrating metabolomics with whole exome sequencing data [PDF]

, 2021
Michiel Bongaerts, Ramon Bonte, Serwet Demirdas, Hidde H. Huidekoper, Janneke G. Langendonk, Martina Wilke, Walter de Valk, Henk J. Blom, Marcel J.T. Reinders, George J. G. Ruijter   +9 more
openalex   +1 more source

The 9th International RASopathies Symposium

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The RASopathies are a group of congenital disorders with overlapping clinical manifestations that are caused by pathogenic germline or early somatic variants that result in the hyperactivation of the RAS/mitogen‐activated protein kinase (MAPK) signaling pathway.
Pau Castel, Lisa Schoyer, Beth Stronach, Raya Bogdanova, Anton M. Bennett, Jaishri Blakeley, Miriam Bornhorst, Tammy Bowers, Saskia M. Brachmann, Emma Burkitt‐Wright, Kathryn Chatfield, Alessandro De Luca, Khalil El‐Chammas, Abdul Elkadri, John E. Fortunato, Bruce D. Gelb, Anne Goriely, Karen Gripp, Kassidy Grover, Lindsay Homan, Kenneth A. Kern, Maija Kiuru, Charles (Chuck) Lawson, Yong‐Seok Lee, Frank McCormick, Gina Ney, Cristina Nuevo‐Tapioles, Sara Pardej, Elizabeth I. Pierpont, Julia Plank, Nancy Ratner, Katherine A. Rauen, J. Elliott Robinson, Les Rogers, Sarah E. Sheppard, Keir Shiels, David Stevenson, Dagmar Tiemens, Matthew Traylor, K. Nicole Weaver, Marielle Yohe, Tamar Green   +41 more
wiley   +1 more source

The driver landscape of sporadic chordoma. [PDF]

, 2017
Chordoma is a malignant, often incurable bone tumour showing notochordal differentiation. Here, we defined the somatic driver landscape of 104 cases of sporadic chordoma. We reveal somatic duplications of the notochordal transcription factor brachyury (T)
Alexandrov, Ludmil B, Amary, M Fernanda, Bashashati, Ali, Baumhoer, Daniel, Behjati, Sam, Brandner, Sebastian, Butler, Adam P, Campbell, Peter J, Cogswell, Patricia, Dickson, Brendan, Farndon, Sarah J, Flanagan, Adrienne M, Futreal, P Andrew, Guzzo, Charlotte, Hardy, Claire, Huntsman, David, Jamshidi, Farzad, Latimer, Calli, Martincorena, Inigo, Nielsen, Torsten O, Phillips, Joanna J, Pillay, Nischalan, Shah, Sohrab, Shlien, Adam, Sommer, Josh, Stratton, Michael R, Tarpey, Patrick S, Teague, Jon W, Tirabosco, Roberto, Wunder, Jay, Yip, Stephen, Young, Matthew D   +31 more
core   +2 more sources

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

Whole-Exome Sequencing of Syndromic Adrenocortical Carcinoma Reveals Distinct Mutational Profile From Sporadic ACC [PDF]

, 2019
Norman G. Nicolson, James M. Healy, Reju Korah, Tobias Carling   +3 more
openalex   +1 more source

Supplementary Table 2 from Very Long-term Survival Following Resection for Pancreatic Cancer Is Not Explained by Commonly Mutated Genes: Results of Whole-Exome Sequencing Analysis

, 2023
Marco Dal Molin, Ming Zhang, Roeland F. de Wilde, Niki A. Ottenhof, Neda Rezaee, Christopher L. Wolfgang, Amanda L. Blackford, Bert Vogelstein, Kenneth W. Kinzler, Nickolas Papadopoulos, Ralph H. Hruban, Anirban Maitra, Laura D. Wood   +12 more
openalex   +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

Supplementary Table 1 from Very Long-term Survival Following Resection for Pancreatic Cancer Is Not Explained by Commonly Mutated Genes: Results of Whole-Exome Sequencing Analysis

, 2023
Marco Dal Molin, Ming Zhang, Roeland F. de Wilde, Niki A. Ottenhof, Neda Rezaee, Christopher L. Wolfgang, Amanda L. Blackford, Bert Vogelstein, Kenneth W. Kinzler, Nickolas Papadopoulos, Ralph H. Hruban, Anirban Maitra, Laura D. Wood   +12 more
openalex   +1 more source