Literature DB >> 7807310

Alström syndrome: a case misdiagnosed as Bardet-Biedl syndrome.

D S Dyer1, M E Wilson, K W Small, G S Pai.   

Abstract

Entities:  

Mesh：

Year:  1994        PMID： 7807310     DOI： 10.3928/0191-3913-19940701-19

Source DB:  PubMed          Journal:  J Pediatr Ophthalmol Strabismus        ISSN： 0191-3913            Impact factor:   1.402


× No keyword cloud information.
  7 in total

1.  Alström syndrome--an uncommon cause of early childhood retinal dystrophy.

Authors:  Leo Sheck; Rasha Al-Taie; Dianne Sharp; Andrea Vincent
Journal:  BMJ Case Rep       Date:  2011-08-17

2.  Molecular approach in the study of Alström syndrome: analysis of ten Spanish families.

Authors:  Teresa Piñeiro-Gallego; Marta Cortón; Carmen Ayuso; Montserrat Baiget; Diana Valverde
Journal:  Mol Vis       Date:  2012-07-03       Impact factor: 2.367

3.  Whole-exome sequencing identifies a novel ALMS1 mutation (p.Q2051X) in two Japanese brothers with Alström syndrome.

Authors:  Satoshi Katagiri; Kazutoshi Yoshitake; Masakazu Akahori; Takaaki Hayashi; Masaaki Furuno; Jo Nishino; Kazuho Ikeo; Hiroshi Tsuneoka; Takeshi Iwata
Journal:  Mol Vis       Date:  2013-11-24       Impact factor: 2.367

4.  A Unique Manifestation of Bardet-Biedl Syndrome with Otolaryngologic Symptoms and Bronchopneumonia in a One-year-old Girl.

Authors:  Syeda Hania Mahmood; Maria Khan; Laila Tul Qadar; Fareeha Yousuf; Mohammad Hasan
Journal:  Cureus       Date:  2019-09-21

Review 5.  Alstrom syndrome (OMIM 203800): a case report and literature review.

Authors:  Tisha Joy; Henian Cao; Graeme Black; Rayaz Malik; Valentine Charlton-Menys; Robert A Hegele; Paul N Durrington
Journal:  Orphanet J Rare Dis       Date:  2007-12-21       Impact factor: 4.123

6.  Theory-of-mind in individuals with Alström syndrome is related to executive functions, and verbal ability.

Authors:  Hans-Erik Frölander; Claes Möller; Mary Rudner; Sushmit Mishra; Jan D Marshall; Heather Piacentini; Björn Lyxell
Journal:  Front Psychol       Date:  2015-09-23

7.  Comparative Natural History of Visual Function From Patients With Biallelic Variants in BBS1 and BBS10.

Authors:  Monika K Grudzinska Pechhacker; Samuel G Jacobson; Arlene V Drack; Matteo Di Scipio; Ine Strubbe; Wanda Pfeifer; Jacque L Duncan; Helene Dollfus; Nathalie Goetz; Jean Muller; Andrea L Vincent; Tomas S Aleman; Anupreet Tumber; Caroline Van Cauwenbergh; Elfride De Baere; Emma Bedoukian; Bart P Leroy; Jason T Maynes; Francis L Munier; Erika Tavares; Eman Saleh; Ajoy Vincent; Elise Heon
Journal:  Invest Ophthalmol Vis Sci       Date:  2021-12-01       Impact factor: 4.799
  7 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.