Výsledky vyhledávání - "Sarah L, Sawyer"

Akademický článek

Canakinumab in addition to phosphate-binding and phosphaturia-inducing therapy were effective in achieving remission in a child with a large familial calcinotic tumour

Autor: Maria Ochoa, Roman Jurencak, Kevin Smit, Sasha Carsen, Sarah L. Sawyer, Marie-Eve Robinson, Karine Khatchadourian, Hooi Peng Cheng, Marika Pagé, Joel Werier, Leanne Marie Ward

Publikováno v: Bone Reports, Vol 19, Iss , Pp 101695- (2023)

We describe the clinical evolution of a patient with tumoral calcinosis due to a pathogenic variant in the GALNT3 gene presented with a large mass overlying her left hip associated complicated by inflammatory flares. Therapy (sevelamer, acetazolamide

Externí odkaz: https://doaj.org/article/8263dfb12562465cac43ce38dde4da34

Zobrazit plný text záznamu

Rhabdomyosarcoma as the first presentation in Neurofibromatosis Type 1: case series and review of the literature

Autor: Alison M. R. Castle, Brianna Empringham, Lisa M Pinto, Anita Villani, Nisha Kanwar, Lesleigh S. Abbott, Sarah L Sawyer

Publikováno v: Pediatric Hematology and Oncology. :1-10

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::87120c7efea67b628ebf7d0efa29137b
https://doi.org/10.1080/08880018.2022.2153951

Zobrazit plný text záznamu

The implementation of an enhanced clinical model to improve the diagnostic yield of exome sequencing for patients with a rare genetic disease: A Canadian experience

Autor: Grace Uwaila, Ediae, Gabrielle, Lemire, Caitlin, Chisholm, Taila, Hartley, Alison, Eaton, Matthew, Osmond, Samantha K, Rojas, Lijia, Huang, Meredith, Gillespie, Sarah L, Sawyer, Kym M, Boycott

Publikováno v: American Journal of Medical Genetics Part A. 191:338-347

The introduction of clinical exome sequencing (ES) has provided a unique opportunity to decrease the diagnostic odyssey for patients living with a rare genetic disease (RGD). ES has been shown to provide a diagnosis in 29%-57% of patients with a susp

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::833b228c473e139cc1685b1da73ce0ae
https://doi.org/10.1002/ajmg.a.63022

Zobrazit plný text záznamu

Supplementary Figure 2 from Biallelic Mutations in BRCA1 Cause a New Fanconi Anemia Subtype

Autor: Roger A. Greenberg, Jukka S. Moilanen, Lisa A. Moreau, Kym M. Boycott, A. Micheil Innes, David A. Dyment, Jacek Majewski, Martin Kircher, Jeremy Schwartzentruber, Marketta Kähkönen, Lei Tian, Sarah L. Sawyer

Supplementary Figure 2. Functional analysis of the BRCA1 (p.Arg1699Trp) mutation.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ebbbb4ebee3c4a85595c8bb0dede092d
https://doi.org/10.1158/2159-8290.22530597

Zobrazit plný text záznamu

Supplementary Figure 1 from Biallelic Mutations in BRCA1 Cause a New Fanconi Anemia Subtype

Supplementary Figure 1. BRCA1 mutations lead to impaired MMC induced DNA damage signaling.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0532760bd962cbf7fc57649914de88e2
https://doi.org/10.1158/2159-8290.22530600.v1

Zobrazit plný text záznamu

Supplementary Figure 3 from Biallelic Mutations in BRCA1 Cause a New Fanconi Anemia Subtype

Supplementary Figure 3. BRCA1 mutations result in compromised DNA damage repair.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::40f20d1c057843a50a7b64621f017be9
https://doi.org/10.1158/2159-8290.22530594.v1

Zobrazit plný text záznamu

Phenotate: crowdsourcing phenotype annotations as exercises in undergraduate classes

Autor: Tugce B. Balci, Michael Brudno, Willie H. Chang, Annie Olry, Peter N. Robinson, Sylvie Maiella, Brittney Johnstone, Mia Husić, Sarah L. Sawyer, Pouria Mashouri, Alexander X. Lozano, Ana Rath

Publikováno v: Genetics in Medicine. 22:1391-1400

Purpose Computational documentation of genetic disorders is highly relianton structured data for differential diagnosis, pathogenic variant identification, and patient matchmaking. However, most information on rare diseases (RDs) exists in free form

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::fd91cdfd0cb1dfa117fbd8d0ffcc4347
https://doi.org/10.1038/s41436-020-0812-7

Zobrazit plný text záznamu

Akademický článek

Scoring insertion-deletion polymorphisms by dynamic allele-specific hybridization

Autor: Sarah L. Sawyer, W. Mathias Howell, Anthony J. Brookes

Publikováno v: BioTechniques, Vol 35, Iss 2, Pp 292-298 (2003)

Genome variation provides researchers with thousands of markers with which to study human demographic history and phenotypes. Insertion-deletion (indel) polymorphism is an important and abundant form of human genome variation, and convenient methods

Externí odkaz: https://doaj.org/article/9b7e72030b054523a565328ae6caabbc

Zobrazit plný text záznamu

Homozygous WNT9B variants in two families with bilateral renal agenesis/hypoplasia/dysplasia

Autor: Joseph de Nanassy, Chunyan Wang, Kristin D. Kernohan, Ruobing Zou, Gabrielle Lemire, Bryan Lo, Priya T. Bhola, Shirlee Shril, Caitlin Chisholm, Sherif El Desoky, Sarah L. Sawyer, Grace U Ediae, Jameela A. Kari, Kym M. Boycott, Bixia Zheng, Friedhelm Hildebrandt, Xueqi Wang, Mohammed Shalaby

Publikováno v: Am J Med Genet A

WNT9B plays a key role in the development of the mammalian urogenital system. It is essential for the induction of mesonephric and metanephric tubules, the regulation of renal tubule morphogenesis, and the regulation of renal progenitor cell expansio

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0ddfa02391d738882cd637ce5f06c9b8
https://europepmc.org/articles/PMC8446303/

Zobrazit plný text záznamu

SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females

Autor: Gilles Morin, Krista Bluske, Nathaniel H. Robin, Laurence Faivre, Manuela Priolo, Dihong Zhou, Evangeline Kurtz-Nelson, Tianyun Wang, Omar Sherbini, Daryl A. Scott, Karen Stals, Fabíola Paoli Monteiro, Kaifang Pang, Sara Cabet, Francesca Clementina Radio, Bruno Dallapiccola, Marjon van Slegtenhorst, Rachel K. Earl, Katheryn Grand, Maria Iascone, Alice S. Brooks, Angelo Selicorni, July K. Jean Cuevas, Paolo Gasparini, Maria Lisa Dentici, Marialetizia Motta, Britt-Marie Anderlid, Kristin Lindstrom, Berrin Monteleone, Andrea Ciolfi, Karin Weiss, Katharina Steindl, Kirsty McWalter, Rosalba Carrozzo, Ruben Boers, Helen Kingston, Kym M. Boycott, Bekim Sadikovic, Laura Schultz-Rogers, Evan E. Eichler, Laura A Cross, Alison M R Castle, Louisa Kalsner, Lucia Pedace, Marijke R. Wevers, John M. Graham, Jessica Sebastian, Antonio Vitobello, Gaetan Lesca, Alexander P.A. Stegmann, Suneeta Madan-Khetarpal, Tahsin Stefan Barakat, Abdallah F. Elias, Teresa Robert Finestra, Adeline Vanderver, Peter D. Turnpenny, Bregje W.M. van Bon, Aida Telegrafi, David J. Amor, Deepali N. Shinde, Pedro A. Sanchez-Lara, Lisenka E.L.M. Vissers, Adam Jackson, Rolph Pfundt, Alessandro Bruselles, Andres Hernandez-Garcia, Karin E. M. Diderich, Flavio Faletra, Dana H. Goodloe, Joanne Baez, Sarit Ravid, Romano Tenconi, Sarah L. Sawyer, Lynn Pais, Bronwyn Kerr, Joost Gribnau, Lauren Carter, Melissa T. Carter, Zhandong Liu, Jennifer L. Kemppainen, Jennifer MacKenzie, Jimmy Holder, Elke de Boer, Margaret Au, Taila Hartley, Carol J Saunders, Luciana Musante, Bert B.A. de Vries, Tania Vertemati Secches, Haley McConkey, Willow Sheehan, Francesca Pantaleoni, Caterina Zanus, Christophe Philippe, Chelsea Roadhouse, Stefania Lo Cicero, Sian Ellard, R. Tanner Hagelstrom, Megha Desai, Fernando Kok, Joset Pascal, Marco Tartaglia, Eric W. Klee, Eva Morava, Michael A. Levy, Peggy Kulch, Lyndon Gallacher, Erica L. Macke, Emilia Stellacci, Siddharth Banka, Kristin G. Monaghan, Anita Rauch, Meghan C. Towne, Kate Chandler

Publikováno v: American Journal of Human Genetics, 108(3), 502-516. Cell Press
American Journal of Human Genetics, 108, 3, pp. 502-516
Am J Hum Genet
American Journal of Human Genetics, 108, 502-516

Contains fulltext : 231702.pdf (Publisher’s version ) (Closed access) Deletion 1p36 (del1p36) syndrome is the most common human disorder resulting from a terminal autosomal deletion. This condition is molecularly and clinically heterogeneous. Delet

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0ca1a210d6320f77ca12d03a0549f6d7
https://pure.eur.nl/en/publications/6c5a2968-0de0-4074-8849-a2d72291e184

Zobrazit plný text záznamu

Vyhledávací nástroje:

Upřesnit hledání