Suchergebnisse - "Patel, Mitali"

PubPharm (21)

1

Ciliopathy patient variants reveal organelle-specific functions for TUBB4B in axonemal microtubules

enthalten in: Science (New York, N.Y.) | 2024

von Dodd, D. | Mechaussier, S. | Yeyati, P. | +81

2

Defective airway intraflagellar transport underlies a combined motile and primary ciliopathy syndrome caused by IFT74 mutations

enthalten in: Human molecular genetics | 2023

von Fassad, M. | Rumman, N. | Junger, K. | +8

3

Topological data analysis reveals genotype-phenotype relationships in primary ciliary dyskinesia

enthalten in: The European respiratory journal | 2021

von Shoemark, A. | Rubbo, B. | Legendre, M. | +27

CommentIn: Eur Respir J. 2021 Aug 5;58(2):. - PMID 34353866

4

PCD Detect : enhancing ciliary features through image averaging and classification

enthalten in: American journal of physiology. Lung cellular and molecular physiology | 2020

von Shoemark, A. | Pinto, A. | Patel, M. | +4

5

Clinical utility of NGS diagnosis and disease stratification in a multiethnic primary ciliary dyskinesia cohort

enthalten in: Journal of medical genetics | 2020

von Fassad, M. | Patel, M. | Shoemark, A. | +34

6

Clinical and genetic spectrum in 33 Egyptian families with suspected primary ciliary dyskinesia

enthalten in: Clinical genetics | 2020

von Fassad, M. | Shoman, W. | Morsy, H. | +7

7

Risk factors for situs defects and congenital heart disease in primary ciliary dyskinesia

enthalten in: Thorax | 2019

von Best, S. | Shoemark, A. | Rubbo, B. | +25

8

Mutations in Outer Dynein Arm Heavy Chain DNAH9 Cause Motile Cilia Defects and Situs Inversus

enthalten in: American journal of human genetics | 2018

von Fassad, M. | Shoemark, A. | Legendre, M. | +24

9

C11orf70 Mutations Disrupting the Intraflagellar Transport-Dependent Assembly of Multiple Axonemal Dyneins Cause Primary Ciliary Dyskinesia

enthalten in: American journal of human genetics | 2018

von Fassad, M. | Shoemark, A. | le Borgne, P. | +15

10

High prevalence of CCDC103 p.His154Pro mutation causing primary ciliary dyskinesia disrupts protein oligomerisation and is associated with normal diagnostic investigations

enthalten in: Thorax | 2018

von Shoemark, A. | Moya, E. | Hirst, R. | +34

CommentIn: Thorax. 2018 Feb;73(2):101-102. - PMID 29133352