Literature DB >> 27300082

Strømme Syndrome Is a Ciliary Disorder Caused by Mutations in CENPF.

Isabel Filges1, Elisabeth Bruder2, Kristin Brandal3, Stephanie Meier1, Dag Erik Undlien3, Trine Rygvold Waage4, Irene Hoesli5, Max Schubach6, Tjaart de Beer7, Ying Sheng3, Sylvia Hoeller2, Sven Schulzke8, Oddveig Røsby3, Peter Miny1, Sevgi Tercanli9, Truls Oppedal10, Peter Meyer2, Kaja Kristine Selmer3, Petter Strømme11.   

Abstract

Entities:  

Year:  2016        PMID: 27300082     DOI: 10.1002/humu.22997

Source DB:  PubMed          Journal:  Hum Mutat        ISSN: 1059-7794            Impact factor:   4.878


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  3 in total

1.  Molecular autopsy in maternal-fetal medicine.

Authors:  Hanan E Shamseldin; Wesam Kurdi; Fatima Almusafri; Maha Alnemer; Alya Alkaff; Zeneb Babay; Amal Alhashem; Maha Tulbah; Nada Alsahan; Rubina Khan; Bahauddin Sallout; Elham Al Mardawi; Mohamed Zain Seidahmed; Niema Meriki; Yasser Alsaber; Alya Qari; Ola Khalifa; Wafaa Eyaid; Zuhair Rahbeeni; Ahmed Kurdi; Mais Hashem; Tarfa Alshidi; Eman Al-Obeid; Firdous Abdulwahab; Niema Ibrahim; Nour Ewida; Karen El-Akouri; Mariam Al Mulla; Tawfeg Ben-Omran; Matthias Pergande; Sebahattin Cirak; Saeed Al Tala; Ranad Shaheen; Eissa Faqeih; Fowzan S Alkuraya
Journal:  Genet Med       Date:  2017-07-20       Impact factor: 8.822

2.  Biallelic variants in CENPF causing a phenotype distinct from Strømme syndrome.

Authors:  Gerarda Cappuccio; Simona Brillante; Roberta Tammaro; Michele Pinelli; Margherita Lucia De Bernardi; Maria Grazia Gensini; Emilia K Bijlsma; Tamara T Koopmann; Mariette J V Hoffer; Kimberly McDonald; Laura G Hendon; Sofia Douzgou; Charulata Deshpande; Stefano D'Arrigo; Annalaura Torella; Vincenzo Nigro; Brunella Franco; Nicola Brunetti-Pierri
Journal:  Am J Med Genet C Semin Med Genet       Date:  2022-04-30       Impact factor: 3.359

3.  Pathogenic alleles in microtubule, secretory granule and extracellular matrix-related genes in familial keratoconus.

Authors:  Vishal Shinde; Nara Sobreira; Elizabeth S Wohler; George Maiti; Nan Hu; Giuliana Silvestri; Sonia George; Jonathan Jackson; Aravinda Chakravarti; Colin E Willoughby; Shukti Chakravarti
Journal:  Hum Mol Genet       Date:  2021-05-17       Impact factor: 6.150

  3 in total

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