Literature DB >> 32573025

Confirming TBC1D32-related ciliopathy in humans.

Nada Alsahan1, Fowzan S Alkuraya2,3.   

Abstract

Entities:  

Keywords:  anophthalmia; hydrocephalus; midline; single nostril

Mesh：

Substances：

Year:  2020        PMID： 32573025     DOI： 10.1002/ajmg.a.61717

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN： 1552-4825            Impact factor:   2.802


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  3 in total

1.  Prenatal exome sequencing and chromosomal microarray analysis in fetal structural anomalies in a highly consanguineous population reveals a propensity of ciliopathy genes causing multisystem phenotypes.

Authors:  Mohamed H Al-Hamed; Wesam Kurdi; Rubina Khan; Maha Tulbah; Maha AlNemer; Nada AlSahan; Maisoon AlMugbel; Rafiullah Rafiullah; Mirna Assoum; Dorota Monies; Zeeshan Shah; Zuhair Rahbeeni; Nada Derar; Fahad Hakami; Gawaher Almutairi; Afaf AlOtaibi; Wafaa Ali; Amal AlShammasi; Wardah AlMubarak; Samia AlDawoud; Saja AlAmri; Bashayer Saeed; Hanifa Bukhari; Mohannad Ali; Rana Akili; Laila Alquayt; Samia Hagos; Hadeel Elbardisy; Asma Akilan; Nora Almuhana; Abrar AlKhalifah; Mohamed Abouelhoda; Khushnooda Ramzan; John A Sayer; Faiqa Imtiaz
Journal:  Hum Genet       Date:  2021-12-01       Impact factor: 4.132

2.  17q12 Recurrent Deletions and Duplications: Description of a Case Series with Neuropsychiatric Phenotype.

Authors:  Roberta Milone; Raffaella Tancredi; Angela Cosenza; Anna Rita Ferrari; Roberta Scalise; Giovanni Cioni; Roberta Battini
Journal:  Genes (Basel)       Date:  2021-10-21       Impact factor: 4.096

3.  A comprehensive WGS-based pipeline for the identification of new candidate genes in inherited retinal dystrophies.

Authors:  María González-Del Pozo; Elena Fernández-Suárez; Nereida Bravo-Gil; Cristina Méndez-Vidal; Marta Martín-Sánchez; Enrique Rodríguez-de la Rúa; Manuel Ramos-Jiménez; María José Morillo-Sánchez; Salud Borrego; Guillermo Antiñolo
Journal:  NPJ Genom Med       Date:  2022-03-04       Impact factor: 8.617
  3 in total

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