PMC Links for Nucleotide (Select 1519246349) - PMC

Select item 57359361.

Common founder effects of hereditary hemochromatosis, Wilson´s disease, the long QT syndrome and autosomal recessive deafness caused by two novel mutations in the WHRN and TMC1 genes

K. Sigvard Olsson, Olof Wålinder, Ulf Jansson, Maria Wilbe, Marie-Louise Bondeson, Eva-Lena Stattin, Ruma Raha-Chowdhury, Roger Williams

Hereditas. 2017; 154: 16. Published online 2017 Dec 19. doi: 10.1186/s41065-017-0052-2

PMCID:: PMC5735936

Abstract Article PDF–1.1M

Select item 39496872.

Massively Parallel DNA Sequencing Facilitates Diagnosis of Patients with Usher Syndrome Type 1

Hidekane Yoshimura, Satoshi Iwasaki, Shin-ya Nishio, Kozo Kumakawa, Tetsuya Tono, Yumiko Kobayashi, Hiroaki Sato, Kyoko Nagai, Kotaro Ishikawa, Tetsuo Ikezono, Yasushi Naito, Kunihiro Fukushima, Chie Oshikawa, Takashi Kimitsuki, Hiroshi Nakanishi, Shin-ichi Usami

PLoS One. 2014; 9(3): e90688. Published online 2014 Mar 11. doi: 10.1371/journal.pone.0090688

PMCID:: PMC3949687

Abstract Article PDF–204K

Select item 38417883.

Usher proteins in inner ear structure and function

Zubair M. Ahmed, Gregory I. Frolenkov, Saima Riazuddin

Physiol Genomics. 2013 Nov 1; 45(21): 987–989. Published online 2013 Sep 10. doi: 10.1152/physiolgenomics.00135.2013

PMCID:: PMC3841788

Abstract Article

Select item 65583664.

Genetic Screening of the Usher Syndrome in Cuba

Elayne E. Santana, Carla Fuster-García, Elena Aller, Teresa Jaijo, Belén García-Bohórquez, Gema García-García, José M. Millán, Araceli Lantigua

Front Genet. 2019; 10: 501. Published online 2019 May 22. doi: 10.3389/fgene.2019.00501

PMCID:: PMC6558366

Abstract Article PDF–1.4M

Select item 62442115.

High-throughput sequencing for the molecular diagnosis of Usher syndrome reveals 42 novel mutations and consolidates CEP250 as Usher-like disease causative

Carla Fuster-García, Gema García-García, Teresa Jaijo, Neus Fornés, Carmen Ayuso, Miguel Fernández-Burriel, Ana Sánchez-De la Morena, Elena Aller, José M. Millán

Sci Rep. 2018; 8: 17113. Published online 2018 Nov 20. doi: 10.1038/s41598-018-35085-0

PMCID:: PMC6244211

Abstract Article PDF–4.1M

Select item 42457696.

Targeted next generation sequencing for molecular diagnosis of Usher syndrome

María J Aparisi, Elena Aller, Carla Fuster-García, Gema García-García, Regina Rodrigo, Rafael P Vázquez-Manrique, Fiona Blanco-Kelly, Carmen Ayuso, Anne-Françoise Roux, Teresa Jaijo, José M Millán

Orphanet J Rare Dis. 2014; 9: 168. Published online 2014 Nov 18. doi: 10.1186/s13023-014-0168-7

PMCID:: PMC4245769

Abstract Article PDF–605K

Select item 31231647.

A novel DFNB31 mutation associated with Usher type 2 syndrome showing variable degrees of auditory loss in a consanguineous Portuguese family.

Isabelle Audo, Kinga Bujakowska, Saddek Mohand-Saïd, Sophie Tronche, Marie-Elise Lancelot, Aline Antonio, Aurore Germain, Christine Lonjou, Wassila Carpentier, José-Alain Sahel, Shomi Bhattacharya, Christina Zeitz

Mol Vis. 2011; 17: 1598–1606. Published online 2011 Jun 15.

PMCID:: PMC3123164

Abstract Article PDF–708K

Select item 28456678.

Sequence variants of the DFNB31 gene among Usher syndrome patients of diverse origin

Elena Aller, Teresa Jaijo, Erwin van Wijk, Inga Ebermann, Ferry Kersten, Gema García-García, Krysta Voesenek, María José Aparisi, Lies Hoefsloot, Cor Cremers, Manuel Díaz-Llopis, Ronald Pennings, Hanno J. Bolz, Hannie Kremer, José M. Millán

Mol Vis. 2010; 16: 495–500. Published online 2010 Mar 23.

PMCID:: PMC2845667

Abstract Article PDF–914K

PMC

Result Filters

Article attributes

Text availability

Publication date

Custom date range

Research Funder

Additional filters

Display Settings:

Send to:

Links from Nucleotide

Items: 8

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity