Literature DB >> 24948625

Novel severe hemophilia A and moyamoya (SHAM) syndrome caused by Xq28 deletions encompassing F8 and BRCC3 genes.

Szymon Janczar1, Anna Fogtman2, Marta Koblowska3, Dobromila Baranska4, Agata Pastorczak1, Olga Wegner1, Magdalena Kostrzewska1, Pawel Laguna5, Maciej Borowiec1, Wojciech Mlynarski1.   

Abstract

Entities:  

Mesh:

Substances:

Year:  2014        PMID: 24948625     DOI: 10.1182/blood-2014-02-553685

Source DB:  PubMed          Journal:  Blood        ISSN: 0006-4971            Impact factor:   22.113


× No keyword cloud information.
  7 in total

1.  Probable Moyamoya Syndrome in Association with Hemophilia A in an Infant.

Authors:  Arushi Gahlot Saini; Jyotindra Narayan Goswami; Renu Suthar; Naveen Sankhyan; Sameer Vyas; Pratibha Singhi
Journal:  Indian J Pediatr       Date:  2016-09-15       Impact factor: 1.967

2.  Clinical characterization of int22h1/int22h2-mediated Xq28 duplication/deletion: new cases and literature review.

Authors:  Ayman W El-Hattab; Christian P Schaaf; Ping Fang; Elizabeth Roeder; Virginia E Kimonis; Joseph A Church; Ankita Patel; Sau Wai Cheung
Journal:  BMC Med Genet       Date:  2015-03-14       Impact factor: 2.103

Review 3.  Juvenile Moyamoya and Craniosynostosis in a Child with Deletion 1p32p31: Expanding the Clinical Spectrum of 1p32p31 Deletion Syndrome and a Review of the Literature.

Authors:  Paolo Prontera; Daniela Rogaia; Amedea Mencarelli; Valentina Ottaviani; Ester Sallicandro; Giorgio Guercini; Susanna Esposito; Anna Bersano; Giuseppe Merla; Gabriela Stangoni
Journal:  Int J Mol Sci       Date:  2017-09-17       Impact factor: 5.923

4.  Microduplication of 15q13.3 and Microdeletion of 18q21.32 in a Patient with Moyamoya Syndrome.

Authors:  Sciacca Francesca Luisa; Ambra Rizzo; Gloria Bedini; Fioravante Capone; Vincenzo Di Lazzaro; Sara Nava; Francesco Acerbi; Davide Sebastiano Rossi; Simona Binelli; Giuseppe Faragò; Andrea Gioppo; Marina Grisoli; Maria Grazia Bruzzone; Paolo Ferroli; Chiara Pantaleoni; Luigi Caputi; Jesus Vela Gomez; Eugenio Agostino Parati; Anna Bersano
Journal:  Int J Mol Sci       Date:  2018-11-20       Impact factor: 5.923

5.  Severe Hemophilia A and Moyamoya Syndrome in a 19-Year-Old Boy Caused by Xq28 Microdeletion.

Authors:  Evangelia Tzeravini; Stamatia Samara; Anna Kouramba; Georgios Vakrinos; Athina Efthimiou; Maria Tzetis; Theodoros Androutsakos
Journal:  Case Rep Neurol       Date:  2022-05-30

6.  Deletion of FUNDC2 and CMC4 on Chromosome Xq28 Is Sufficient to Cause Hypergonadotropic Hypogonadism in Men.

Authors:  Xinxian Deng; He Fang; Asha Pathak; Angela M Zou; Whitney Neufeld-Kaiser; Emily A Malouf; Richard A Failor; Fuki M Hisama; Yajuan J Liu
Journal:  Front Genet       Date:  2020-09-22       Impact factor: 4.599

Review 7.  Western Moyamoya Phenotype: A Scoping Review.

Authors:  Raphael Miller; Santiago R Unda; Ryan Holland; David J Altschul
Journal:  Cureus       Date:  2021-11-22
  7 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.