Mutations in RSPH1 cause primary ciliary dyskinesia with a unique clinical and ciliary phenotype

American Journal of Respiratory and Critical Care Medicine

Volumn 189, Issue 6, 2014, Pages 707-717

  Knowles, Michael R ^a   Ostrowski, Lawrence E ^a   Leigh, Margaret W ^a   Sears, Patrick R ^a   Davis, Stephanie D ^a,m   Wolf, Whitney E ^a   Hazucha, Milan J ^a   Carson, Johnny L ^a   Olivier, Kenneth N ^a   Sagel, Scott D ^b   Rosenfeld, Margaret ^c   Ferkol, Thomas W ^d   Dell, Sharon D ^e   Milla, Carlos E ^f   Randell, Scott H ^a   Yin, Weining ^a   Sannuti, Aruna ^a   Metjian, Hilda M ^a,g   Noone, Peadar G ^a   Noone, Peter J ^a   Olson, Christina A ^a   Patrone, Michael V ^a   Dang, Hong ^a   Lee, Hye Seung ^h   Hurd, Toby W ^i,n   Gee, Heon Yung ⁱ   Otto, Edgar A ⁱ   Halbritter, Jan ^i,o   Kohl, Stefan ^i,o   Kircher, Martin ^j   Krischer, Jeffrey ^h   Bamshad, Michael J ^j   Nickerson, Deborah A ^j   Hildebrandt, Friedhelm ^i,k,o   Shendure, Jay ^j   Zariwala, Maimoona A ^l   more..

^a NATIONAL INSTITUTE OF ALLERGY AND INFECTIOUS DISEASES   (United States)

^b Children's Hospital Colorado   (United States)

^c SEATTLE CHILDREN S HOSPITAL   (United States)

^d WASHINGTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

^e HOSPITAL FOR SICK CHILDREN   (Canada)

^f STANFORD UNIVERSITY   (United States)

^g Raleigh Pulmonary and Allergy   (United States)

^h UNIVERSITY OF SOUTH FLORIDA   (United States)

ⁱ UNIVERSITY OF MICHIGAN MEDICAL SCHOOL   (United States)

^j UNIVERSITY OF WASHINGTON SCHOOL OF MEDICINE   (United States)

^k HOWARD HUGHES MEDICAL INSTITUTE   (United States)

^l UNIVERSITY OF NORTH CAROLINA SCHOOL OF MEDICINE   (United States)

^m INDIANA UNIVERSITY   (United States)

ⁿ UNIVERSITY OF EDINBURGH   (United Kingdom)

^o HARVARD MEDICAL SCHOOL   (United States)

more..

Author keywords

Cilia; Ciliopathy; Exome sequencing; Kartagener syndrome; RSPH1

Indexed keywords

CYCLOPHILIN A; DYNEIN ADENOSINE TRIPHOSPHATASE; NITRIC OXIDE;

ALLELE; ARTICLE; BRONCHIECTASIS; CILIARY DYSKINESIA; CILIARY MOTILITY; CONTROLLED STUDY; COUGHING; EXOME; FEMALE; FOLLOW UP; FORCED EXPIRATORY VOLUME; GENE; GENE FREQUENCY; GENE MUTATION; GENOTYPE PHENOTYPE CORRELATION; HAPLOTYPE; HOMOZYGOSITY; HUMAN; HUMAN CELL; LOSS OF FUNCTION MUTATION; LUNG FUNCTION; NEONATAL RESPIRATORY DISTRESS SYNDROME; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL; RSPH1 GENE; SIBLING; SINGLE NUCLEOTIDE POLYMORPHISM;

ADOLESCENT; ADULT; CHILD; CILIA; DNA MUTATIONAL ANALYSIS; DNA-BINDING PROTEINS; EXOME; FEMALE; GENETIC ASSOCIATION STUDIES; GENETIC MARKERS; GENETIC TESTING; HOMOZYGOTE; HUMANS; KARTAGENER SYNDROME; LINEAR MODELS; MALE; MIDDLE AGED; MUTATION; NASAL MUCOSA; SEQUENCE ANALYSIS, DNA; YOUNG ADULT;

EID: 84896534982     PISSN: 1073449X     EISSN: 15354970     Source Type: Journal    
DOI: 10.1164/rccm.201311-2047OC     Document Type: Article

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