OpenURL Connection Search

Select item for more details and to access through your institution.

Decoding negative genetic panels in primary ciliary dyskinesia.
Published in:
Pediatric Pulmonology, 2024, v. 59, n. 3, p. 784, doi. 10.1002/ppul.26790
By:
- Gardner, Robert A.;
- Sagel, Scott D.;
- Knowles, Michael R.;
- Ferkol, Thomas W.;
- Davis, Stephanie D.;
- Leigh, Margaret W.;
- Zariwala, Maimoona A.
Publication type:
Article
Cover Image, Volume 58, Number 7, July 2023.
Published in:
Pediatric Pulmonology, 2023, v. 58, n. 7, p. i, doi. 10.1002/ppul.26552
By:
- Hunter‐Schouela, Julia;
- Geraghty, Michael T.;
- Hegele, Robert A.;
- Dyment, David A.;
- St Pierre, David;
- Richer, Julie;
- Sheffield, Holden;
- Zariwala, Maimoona A.;
- Knowles, Michael R.;
- Lehman, Anna;
- Dell, Sharon;
- Shapiro, Adam J.;
- Kovesi, Thomas A.
Publication type:
Article
First reports of primary ciliary dyskinesia caused by a shared DNAH11 allele in Canadian Inuit.
Published in:
Pediatric Pulmonology, 2023, v. 58, n. 7, p. 1942, doi. 10.1002/ppul.26414
By:
- Hunter‐Schouela, Julia;
- Geraghty, Michael T.;
- Hegele, Robert A.;
- Dyment, David A.;
- St Pierre, David;
- Richer, Julie;
- Sheffield, Holden;
- Zariwala, Maimoona A.;
- Knowles, Michael R.;
- Lehman, Anna;
- Dell, Sharon;
- Shapiro, Adam J.;
- Kovesi, Thomas A.
Publication type:
Article
Going beyond the chest X‐ray: Investigating laterality defects in primary ciliary dyskinesia.
Published in:
Pediatric Pulmonology, 2022, v. 57, n. 5, p. 1318, doi. 10.1002/ppul.25853
By:
- Wee, Wallace B.;
- Kaspy, Kimberley R.;
- Sawras, Michael G.;
- Knowles, Michael R.;
- Zariwala, Maimoona A.;
- Leigh, Margaret W.;
- Dell, Sharon D.;
- Shapiro, Adam J.
Publication type:
Article
Use caution interpreting nasal nitric oxide: Overlap in primary ciliary dyskinesia and primary immunodeficiency.
Published in:
Pediatric Pulmonology, 2021, v. 56, n. 12, p. 4045, doi. 10.1002/ppul.25636
By:
- Barber, Andrew T.;
- Davis, Stephanie D.;
- Boutros, Hannah;
- Zariwala, Maimoona;
- Knowles, Michael R.;
- Leigh, Margaret W.
Publication type:
Article
Cytoplasmic "ciliary inclusions" in isolation are not sufficient for the diagnosis of primary ciliary dyskinesia.
Published in:
Pediatric Pulmonology, 2020, v. 55, n. 1, p. 130, doi. 10.1002/ppul.24528
By:
- Vece, Timothy J.;
- Sagel, Scott D.;
- Zariwala, Maimoona A.;
- Sullivan, Kelli M.;
- Burns, Kimberlie A.;
- Dutcher, Susan K.;
- Yusupov, Roman;
- Leigh, Margaret W.;
- Knowles, Michael R.
Publication type:
Article
Expression of a Truncated Form of ODAD1 Associated with an Unusually Mild Primary Ciliary Dyskinesia Phenotype.
Published in:
International Journal of Molecular Sciences, 2022, v. 23, n. 3, p. 1753, doi. 10.3390/ijms23031753
By:
- Ostrowski, Lawrence E.;
- Yin, Weining;
- Smith, Amanda J.;
- Sears, Patrick R.;
- Bustamante-Marin, Ximena M.;
- Dang, Hong;
- Hildebrandt, Friedhelm;
- Daniels, Leigh Anne;
- Capps, Nicole A.;
- Sullivan, Kelli M.;
- Leigh, Margaret W.;
- Zariwala, Maimoona A.;
- Knowles, Michael R.
Publication type:
Article
Airway Disease in Children with Primary Ciliary Dyskinesia: Impact of Ciliary Ultrastructure Defect and Genotype.
Published in:
Annals of the American Thoracic Society, 2023, v. 20, n. 4, p. 539, doi. 10.1513/AnnalsATS.202206-524OC
By:
- Kinghorn, BreAnna;
- Rosenfeld, Margaret;
- Sullivan, Erin;
- Onchiri, Frankline;
- Ferkol, Thomas W.;
- Sagel, Scott D.;
- Dell, Sharon D.;
- Milla, Carlos;
- Shapiro, Adam J.;
- Sullivan, Kelli M.;
- Zariwala, Maimoona A.;
- Pittman, Jessica E.;
- Mollica, Federico;
- Tiddens, Harm A. W. M.;
- de Corput, Mariette Kemner-van;
- Knowles, Michael R.;
- Davis, Stephanie D.;
- Leigh3;, Margaret W.;
- Kemner-van de Corput, Mariette;
- Leigh, Margaret W
Publication type:
Article
Laterality Defects in Primary Ciliary Dyskinesia: Relationship to Ultrastructural Defect or Genotype.
Published in:
Annals of the American Thoracic Society, 2023, v. 20, n. 3, p. 397, doi. 10.1513/AnnalsATS.202206-487OC
By:
- Barber, Andrew T.;
- Shapiro, Adam J.;
- Davis, Stephanie D.;
- Ferkol, Thomas W.;
- Atkinson, Jeffrey J.;
- Sagel, Scott D.;
- Dell, Sharon D.;
- Olivier, Kenneth N.;
- Milla, Carlos E.;
- Rosenfeld, Margaret;
- Lang Li;
- Feng-Chang Lin;
- Sullivan, Kelli M.;
- Capps, Nicole A.;
- Zariwala, Maimoona A.;
- Knowles, Michael R.;
- Leigh, Margaret W.;
- Li, Lang;
- Lin, Feng-Chang;
- Genetic Disorders of Mucociliary Clearance Consortium (GDMCC)
Publication type:
Article
HYDIN Variants Are a Common Cause of Primary Ciliary Dyskinesia in French Canadians.
Published in:
2023
By:
- Shapiro, Adam J.;
- Sillon, Guillaume;
- D'Agostino, Daniela;
- Baret, Laurence;
- López-Giráldez, Francesc;
- Mane, Shrikant;
- Leigh, Margaret W.;
- Davis, Stephanie D.;
- Knowles, Michael R.;
- Zariwala, Maimoona A.
Publication type:
Letter to the Editor
Association of Neonatal Hospital Length of Stay with Lung Function in Primary Ciliary Dyskinesia.
Published in:
Annals of the American Thoracic Society, 2022, v. 19, n. 11, p. 1865, doi. 10.1513/AnnalsATS.202202-116OC
By:
- Wee, Wallace B.;
- Leigh, Margaret W.;
- Davis, Stephanie D.;
- Rosenfeld, Margaret;
- Sullivan, Kelli M.;
- Sawras, Michael G.;
- Ferkol, Thomas W.;
- Knowles, Michael R.;
- Milla, Carlos;
- Sagel, Scott D.;
- Zariwala, Maimoona A.;
- Pullenayegum, Eleanor;
- Dell, Sharon D.
Publication type:
Article
Autosomal dominant variants in FOXJ1 causing primary ciliary dyskinesia in two patients with obstructive hydrocephalus.
Published in:
Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 7, p. 1, doi. 10.1002/mgg3.1726
By:
- Shapiro, Adam J.;
- Kaspy, Kimberley;
- Daniels, M. Leigh Ann;
- Stonebraker, Jaclyn R.;
- Nguyen, Van‐Hung;
- Joyal, Lyne;
- Knowles, Michael R.;
- Zariwala, Maimoona A.
Publication type:
Article
Molecular analysis of the cyclin-dependent kinase inhibitor genes p15.
Published in:
International Journal of Cancer, 1996, v. 68, n. 5, p. 605, doi. 10.1002/(SICI)1097-0215(19961127)68:5<605::AID-IJC9>3.0.CO;2-2
By:
- Gemma, Akihiko;
- Takenoshita, Seiichi;
- Hagiwara, Koichi;
- Okamoto, Aikou;
- Spillare, Elisa A.;
- McMemamin, Mary G.;
- Hussain, S. Perwez;
- Forrester, Kathleen;
- Zariwala, Maimoona;
- Xiong, Yue;
- Harris, Curtis C.
Publication type:
Article
p53 gene mutations in oropharyngeal carcinomas: A comparison of solitary and multiple primary tumours and lymph-node metastases.
Published in:
International Journal of Cancer, 1994, v. 56, n. 6, p. 807, doi. 10.1002/ijc.2910560608
By:
- Zariwala, Maimoona;
- Schmid, Stephan;
- Pfaltz, Madeleine;
- Ohgaki, Hiroko;
- Kleihues, Paul;
- Schäfer, Reinhold
Publication type:
Article
Parathyroid Tumor Suppressor on 1p: Analysis of the p18 Cyclin-Dependent Kinase Inhibitor Gene As a Candidate.
Published in:
Journal of Bone & Mineral Research, 1997, v. 12, n. 9, p. 1330, doi. 10.1359/jbmr.1997.12.9.1330
By:
- Tahara, Hideki;
- Smith, Alison P.;
- Gaz, Randall D.;
- Zariwala, Maimoona;
- Xiong, Yue;
- Arnold, Andrew
Publication type:
Article
Mutation of the p53 tumour suppressor gene occurs preferentially in the chromophobe type of renal cell tumour.
Published in:
Journal of Pathology, 1997, v. 181, n. 2, p. 136, doi. 10.1002/(SICI)1096-9896(199702)181:2<136::AID-PATH766>3.0.CO;2-2
By:
- Contractor, Hans;
- Zariwala, Maimoona;
- Bugert, Peter;
- Zeisler, Jutta;
- Kovaks, Gyula
Publication type:
Article
Mutations in DNAH5 cause primary ciliary dyskinesia and randomization of left?right asymmetry.
Published in:
Nature Genetics, 2002, v. 30, n. 2, p. 143, doi. 10.1038/ng817
By:
- Olbrich, Heike;
- Häffner, Karsten;
- Kispert, Andreas;
- Völkel, Alexander;
- Volz, Andreas;
- Sasmaz, Gürsel;
- Reinhardt, Richard;
- Hennig, Steffen;
- Lehrach, Hans;
- Konietzko, Nikolaus;
- Zariwala, Maimoona;
- Noone, Peadar G.;
- Knowles, Michael;
- Mitchison, Hannah M.;
- Meeks, Maggie;
- Chung, Eddie M.K.;
- Hildebrandt, Friedhelm;
- Sudbrak, Ralf;
- Omran, Heymut
Publication type:
Article
Cover Image, Volume 53, Number 11, November 2018.
Published in:
Pediatric Pulmonology, 2018, v. 53, n. 11, p. i, doi. 10.1002/ppul.24185
By:
- Sanders, Catherine D.;
- Leigh, Margaret W.;
- Chao, Kay C.;
- Weck, Karen E.;
- King, Ian;
- Wolf, Whitney E.;
- Campbell, Dennis J.;
- Knowles, Michael R.;
- Zariwala, Maimoona A.;
- Shapiro, Adam J.
Publication type:
Article
The prevalence of the defining features of primary ciliary dyskinesia within a cri du chat syndrome cohort.
Published in:
Pediatric Pulmonology, 2018, v. 53, n. 11, p. 1565, doi. 10.1002/ppul.24159
By:
- Sanders, Catherine D.;
- Leigh, Margaret W.;
- Chao, Kay C.;
- Weck, Karen E.;
- King, Ian;
- Wolf, Whitney E.;
- Campbell, Dennis J.;
- Knowles, Michael R.;
- Zariwala, Maimoona A.;
- Shapiro, Adam J.
Publication type:
Article
Diagnosis, monitoring, and treatment of primary ciliary dyskinesia: PCD foundation consensus recommendations based on state of the art review.
Published in:
Pediatric Pulmonology, 2016, v. 51, n. 2, p. 115, doi. 10.1002/ppul.23304
By:
- Shapiro, Adam J.;
- Zariwala, Maimoona A.;
- Ferkol, Thomas;
- Davis, Stephanie D.;
- Sagel, Scott D.;
- Dell, Sharon D.;
- Rosenfeld, Margaret;
- Olivier, Kenneth N.;
- Milla, Carlos;
- Daniel, Sam J.;
- Kimple, Adam J.;
- Manion, Michele;
- Knowles, Michael R.;
- Leigh, Margaret W.
Publication type:
Article
Genetic Causes of Bronchiectasis: Primary Ciliary Dyskinesia.
Published in:
Respiration, 2007, v. 74, n. 3, p. 252, doi. 10.1159/000101783
By:
- Morillas, Hilda N.;
- Zariwala, Maimoona;
- Knowles, Michael R.
Publication type:
Article
A Middle-Aged Woman with Recurrent Respiratory Infections.
Published in:
Respiration, 2005, v. 72, n. 4, p. 427, doi. 10.1159/000086260
By:
- Chmura, Kathryn;
- Chan, Edward D.;
- Noone, Peadar G.;
- Zariwala, Maimoona;
- Winn, Robert A.;
- Knowles, Michael R.;
- Iseman, Michael D.;
- Gardner, Edward M.
Publication type:
Article
The prevalence of clinical features associated with primary ciliary dyskinesia in a heterotaxy population: results of a web-based survey.
Published in:
Cardiology in the Young, 2015, v. 25, n. 4, p. 752, doi. 10.1017/S1047951114000912
By:
- Shapiro, Adam J.;
- Tolleson-Rinehart, Sue;
- Zariwala, Maimoona A.;
- Knowles, Michael R.;
- Leigh, Margaret W.
Publication type:
Article
Histo-Blood Group Gene Polymorphisms as Potential Genetic Modifiers of Infection and Cystic Fibrosis Lung Disease Severity.
Published in:
PLoS ONE, 2009, v. 4, n. 1, p. 1, doi. 10.1371/journal.pone.0004270
By:
- Taylor-Cousar, Jennifer L.;
- Zariwala, Maimoona A.;
- Burch, Lauranell H.;
- Pace, Rhonda G.;
- Drumm, Mitchell L.;
- Calloway, Hollin;
- Haiying Fan;
- Weston, Brent W.;
- Wright, Fred A.;
- Knowles, Michael R.
Publication type:
Article
Identification and Analysis of Axonemal Dynein Light Chain 1 in Primary Ciliary Dyskinesia Patients.
Published in:
American Journal of Respiratory Cell & Molecular Biology, 2005, v. 33, n. 1, p. 41, doi. 10.1165/rcmb.2004-0335OC
By:
- Horváth, Judit;
- Fliegauf, Manfred;
- Olbrich, Heike;
- Kispert, Andreas;
- King, Stephen M.;
- Mitchison, Hannah;
- Zariwala, Maimoona A.;
- Knowles, Michael R.;
- Sudbrak, Ralf;
- Fekete, György;
- Neesen, Juergen;
- Reinhardt, Richard;
- Omran, Heymut
Publication type:
Article
Investigation of the Possible Role of a Novel Gene, DPCD, in Primary Ciliary Dyskinesia.
Published in:
American Journal of Respiratory Cell & Molecular Biology, 2004, v. 30, n. 4, p. 428, doi. 10.1165/rcmb.2003-0338RC
By:
- Zariwala, Maimoona;
- O'Neal, Wanda K.;
- Noone, Peadar G.;
- Leigh, Margaret W.;
- Knowles, Michael R.;
- Ostrowski, Lawrence E.
Publication type:
Article
Germline Mutations in an Intermediate Chain Dynein Cause Primary Ciliary Dyskinesia.
Published in:
American Journal of Respiratory Cell & Molecular Biology, 2001, v. 25, n. 5, p. 577, doi. 10.1165/ajrcmb.25.5.4619
By:
- Zariwala, Maimoona;
- Noone, Peadar G.;
- Sannuti, Aruna;
- Minnix, Susan;
- Zhaoqing Zhou;
- Leigh, Margaret W.;
- Hazucha, Milan;
- Carson, Johnny L.;
- Knowles, Michael R.
Publication type:
Article
Hereditary Mucin Deficiency Caused by Biallelic Loss of Function of .
Published in:
2022
By:
- Costain, Gregory;
- Zhen Liu;
- Mennella, Vito;
- Radicioni, Giorgia;
- Goczi, Adrienn N.;
- Albulescu, Alexandra;
- Walker, Susan;
- Ngan, Bo;
- Manson, David;
- Vali, Reza;
- Khan, Meraj;
- Palaniyar, Nades;
- Hill, David B.;
- Hall, David A.;
- Marshall, Christian R.;
- Knowles, Michael;
- Zariwala, Maimoona A.;
- Kesimer, Mehmet;
- Dell, Sharon D.;
- Liu, Zhen
Publication type:
journal article
Primary Ciliary Dyskinesia: Longitudinal Study of Lung Disease by Ultrastructure Defect and Genotype.
Published in:
2018
By:
- Davis, Stephanie D;
- Rosenfeld, Margaret;
- Lee, Hye-Seung;
- Ferkol, Thomas W;
- Sagel, Scott D;
- Dell, Sharon D;
- Milla, Carlos;
- Pittman, Jessica E;
- Shapiro, Adam J;
- Sullivan, Kelli M;
- Nykamp, Keith R;
- Krischer, Jeffrey P;
- Zariwala, Maimoona A;
- Knowles, Michael R;
- Leigh, Margaret W;
- and Genetic Disorders of Mucociliary Clearance Consortium
Publication type:
journal article
Diagnosis of Primary Ciliary Dyskinesia. An Official American Thoracic Society Clinical Practice Guideline.
Published in:
2018
By:
- Shapiro, Adam J.;
- Davis, Stephanie D.;
- Polineni, Deepika;
- Manion, Michele;
- Rosenfeld, Margaret;
- Dell, Sharon D.;
- Chilvers, Mark A.;
- Ferkol, Thomas W.;
- Zariwala, Maimoona A.;
- Sagel, Scott D.;
- Josephson, Maureen;
- Morgan, Lucy;
- Yilmaz, Ozge;
- Olivier, Kenneth N.;
- Milla, Carlos;
- Pittman, Jessica E.;
- Daniels, M. Leigh Anne;
- Jones, Marcus Herbert;
- Janahi, Ibrahim A.;
- Ware, Stephanie M.
Publication type:
journal article
Mutation of CFAP57, a protein required for the asymmetric targeting of a subset of inner dynein arms in Chlamydomonas, causes primary ciliary dyskinesia.
Published in:
PLoS Genetics, 2020, v. 16, n. 8, p. 1, doi. 10.1371/journal.pgen.1008691
By:
- Bustamante-Marin, Ximena M.;
- Horani, Amjad;
- Stoyanova, Mihaela;
- Charng, Wu-Lin;
- Bottier, Mathieu;
- Sears, Patrick R.;
- Yin, Wei-Ning;
- Daniels, Leigh Anne;
- Bowen, Hailey;
- Conrad, Donald F.;
- Knowles, Michael R.;
- Ostrowski, Lawrence E.;
- Zariwala, Maimoona A.;
- Dutcher, Susan K.
Publication type:
Article
A Deep Intronic, Pathogenic Variant in DNAH11 Causes Primary Ciliary Dyskinesia.
Published in:
American Journal of Respiratory Cell & Molecular Biology, 2022, v. 67, n. 4, p. 511, doi. 10.1165/rcmb.2022-0176le
By:
- Shapiro, Adam J.;
- Stonebraker, Jaclyn R.;
- Knowles, Michael R.;
- Zariwala, Maimoona A.
Publication type:
Article
Cyclin E2, a novel human G1 cyclin and activating partner of CDK2 and CDK3, is induced by viral oncoproteins.
Published in:
Oncogene, 1998, v. 17, n. 21, p. 2787, doi. 10.1038/sj.onc.1202505
By:
- Zariwala, Maimoona;
- Liu, Jidong;
- Xiong, Yue
Publication type:
Article
Whole-Exome Sequencing and Targeted Copy Number Analysis in Primary Ciliary Dyskinesia.
Published in:
G3: Genes | Genomes | Genetics, 2015, v. 5, n. 8, p. 1775, doi. 10.1534/g3.115.019851
By:
- Marshall, Christian R.;
- Scherer, Stephen W.;
- Zariwala, Maimoona A.;
- Lau, Lynette;
- Paton, Tara A.;
- Stockley, Tracy;
- Jobling, Rebekah K.;
- Ray, Peter N.;
- Knowles, Michael R.;
- Hall, David A.;
- Dell, Sharon D.;
- Kim, Raymond H.
Publication type:
Article
Cryo-electron tomography reveals ciliary defects underlying human RSPH1 primary ciliary dyskinesia.
Published in:
Nature Communications, 2014, v. 5, n. 12, p. 5727, doi. 10.1038/ncomms6727
By:
- Lin, Jianfeng;
- Yin, Weining;
- Smith, Maria C.;
- Song, Kangkang;
- Leigh, Margaret W.;
- Zariwala, Maimoona A.;
- Knowles, Michael R.;
- Ostrowski, Lawrence E.;
- Nicastro, Daniela
Publication type:
Article
Nasal Nitric Oxide in Primary Immunodeficiency and Primary Ciliary Dyskinesia: Helping to Distinguish Between Clinically Similar Diseases.
Published in:
Journal of Clinical Immunology, 2019, v. 39, n. 2, p. 216, doi. 10.1007/s10875-019-00613-8
By:
- Zysman-Colman, Zofia N.;
- Kaspy, Kimberley R.;
- Alizadehfar, Reza;
- NyKamp, Keith R.;
- Zariwala, Maimoona A.;
- Knowles, Michael R.;
- Vinh, Donald C.;
- Shapiro, Adam J.
Publication type:
Article
Clinical Features of Childhood Primary Ciliary Dyskinesia by Genotype and Ultrastructural Phenotype.
Published in:
American Journal of Respiratory & Critical Care Medicine, 2015, v. 191, n. 3, p. 316, doi. 10.1164/rccm.201409-1672OC
By:
- Davis, Stephanie D.;
- Ferkol, Thomas W.;
- Rosenfeld, Margaret;
- Hye-Seung Lee;
- Dell, Sharon D.;
- Sagel, Scott D.;
- Milla, Carlos;
- Zariwala, Maimoona A.;
- Pittman, Jessica E.;
- Shapiro, Adam J.;
- Carson, Johnny L.;
- Krischer, Jeffrey P.;
- Hazucha, Milan J.;
- Cooper, Matthew L.;
- Knowles, Michael R.;
- Leigh, Margaret W.
Publication type:
Article
Primary ciliary dyskinesia. Recent advances in diagnostics, genetics, and characterization of clinical disease.
Published in:
2013
By:
- Knowles, Michael R;
- Daniels, Leigh Anne;
- Davis, Stephanie D;
- Zariwala, Maimoona A;
- Leigh, Margaret W
Publication type:
journal article
Primary Ciliary Dyskinesia.
Published in:
American Journal of Respiratory & Critical Care Medicine, 2013, v. 188, n. 8, p. 913, doi. 10.1164/rccm.201301-0059CI
By:
- Knowles, Michael R.;
- Daniels, Leigh Anne;
- Davis, Stephanie D.;
- Zariwala, Maimoona A.;
- Leigh, Margaret W.
Publication type:
Article
Mutations of DNAI1 in Primary Ciliary Dyskinesia.
Published in:
American Journal of Respiratory & Critical Care Medicine, 2006, v. 174, n. 8, p. 858, doi. 10.1164/rccm.200603-370OC
By:
- Zariwala, Maimoona A.;
- Leigh, Margaret W.;
- Ceppa, Franck;
- Kennedy, Marcus P.;
- Noone, Peadar G.;
- Carson, Johnny L.;
- Hazucha, Milan J.;
- Lori, Adriana;
- Horvath, Judit;
- Olbrich, Heike;
- Loges, Niki T.;
- Bridoux, Anne-Marie;
- Pennarun, Gaëlle;
- Duriez, Bénédicte;
- Escudier, Estelle;
- Mitchison, Hannah M.;
- Chodhari, Rahul;
- Chung, Eddie M. K.;
- Morgan, Lucy C.;
- De Iongh, Robbert U.
Publication type:
Article
DNAH5 Mutations Are a Common Cause of Primary Ciliary Dyskinesia with Outer Dynein Arm Defects.
Published in:
American Journal of Respiratory & Critical Care Medicine, 2006, v. 174, n. 2, p. 120, doi. 10.1164/rccm.200601-084OC
By:
- Hornef, Nada;
- Olbrich, Heike;
- Horvath, Judit;
- Zariwala, Maimoona A.;
- Fliegauf, Manfred;
- Loges, Niki Tomas;
- Wildhaber, Johannes;
- Noone, Peadar G.;
- Kennedy, Marcus;
- Antonarakis, Stylianos E.;
- Blouin, Jean-Louis;
- Bartoloni, Lucia;
- Nüsslein, Thomas;
- Ahrens, Peter;
- Griese, Matthias;
- Kuhl, Heiner;
- Sudbrak, Ralf;
- Knowles, Michael R.;
- Reinhardt, Richard;
- Omran, Heymut
Publication type:
Article
Mislocalization of DNAH5 and DNAH9 in respiratory cells from patients with primary ciliary dyskinesia.
Published in:
2005
By:
- Fliegauf, Manfred;
- Olbrich, Heike;
- Horvath, Judit;
- Wildhaber, Johannes H.;
- Zariwala, Maimoona A.;
- Kennedy, Marcus;
- Knowles, Michael R.;
- Omran, Heymut
Publication type:
journal article
Primary Ciliary Dyskinesia: Diagnostic and Phenotypic Features.
Published in:
American Journal of Respiratory & Critical Care Medicine, 2004, v. 169, n. 4, p. 1, doi. 10.1164/rccm.200303-365oc
By:
- Noone, Peadar G.;
- Leigh, Margaret W.;
- Sannuti, Aruna;
- Minnix, Susan L.;
- Carson, Johnny L.;
- Hazucha, Milan;
- Zariwala, Maimoona A.;
- Knowles, Michael R.
Publication type:
Article
Primary Ciliary Dyskinesia Diagnostic and Phenotypic Features.
Published in:
American Journal of Respiratory & Critical Care Medicine, 2004, v. 169, n. 4, p. 459, doi. 10.1164/rccm.200303-365OC
By:
- Noone, Peadar G.;
- Leigh, Margaret W.;
- Sannuti, Aruna;
- Minnix, Susan L.;
- Carson, Johnny L.;
- Hazucha, Milan;
- Zariwala, Maimoona A.;
- Knowles, Michael R.
Publication type:
Article
The expanding phenotype of OFD1‐related disorders: Hemizygous loss‐of‐function variants in three patients with primary ciliary dyskinesia.
Published in:
Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 9, p. N.PAG, doi. 10.1002/mgg3.911
By:
- Hannah, William B.;
- DeBrosse, Suzanne;
- Kinghorn, BreAnna;
- Strausbaugh, Steven;
- Aitken, Moira L.;
- Rosenfeld, Margaret;
- Wolf, Whitney E.;
- Knowles, Michael R.;
- Zariwala, Maimoona A.
Publication type:
Article
Recurring large deletion in DRC1 (CCDC164) identified as causing primary ciliary dyskinesia in two Asian patients.
Published in:
Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 8, p. N.PAG, doi. 10.1002/mgg3.838
By:
- Morimoto, Kozo;
- Hijikata, Minako;
- Zariwala, Maimoona A.;
- Nykamp, Keith;
- Inaba, Atsushi;
- Guo, Tz‐Chun;
- Yamada, Hiroyuki;
- Truty, Rebecca;
- Sasaki, Yuka;
- Ohta, Ken;
- Kudoh, Shoji;
- Leigh, Margaret W.;
- Knowles, Michael R.;
- Keicho, Naoto
Publication type:
Article
Carrier frequencies of eleven mutations in eight genes associated with primary ciliary dyskinesia in the Ashkenazi Jewish population.
Published in:
Molecular Genetics & Genomic Medicine, 2015, v. 3, n. 2, p. 137, doi. 10.1002/mgg3.124
By:
- Fedick, Anastasia M.;
- Jalas, Chaim;
- Treff, Nathan R.;
- Knowles, Michael R.;
- Zariwala, Maimoona A.
Publication type:
Article
Otolaryngology Manifestations of Primary Ciliary Dyskinesia: A Multicenter Study.
Published in:
Otolaryngology-Head & Neck Surgery, 2022, v. 166, n. 3, p. 540, doi. 10.1177/01945998211019320
By:
- Zawawi, Faisal;
- Shapiro, Adam J.;
- Dell, Sharon;
- Wolter, Nikolaus E.;
- Marchica, Cinzia L.;
- Knowles, Michael R.;
- Zariwala, Maimoona A.;
- Leigh, Margaret W.;
- Smith, Mariana;
- Gajardo, Pilar;
- Daniel, Sam J.
Publication type:
Article
Primary Ciliary Dyskinesia: A Clinical Review.
Published in:
Cells (2073-4409), 2024, v. 13, n. 11, p. 974, doi. 10.3390/cells13110974
By:
- Despotes, Katherine A.;
- Zariwala, Maimoona A.;
- Davis, Stephanie D.;
- Ferkol, Thomas W.
Publication type:
Article
Founder Mutation in RSPH4A Identified in Patients of Hispanic Descent with Primary Ciliary Dyskinesia.
Published in:
Human Mutation, 2013, v. 34, n. 10, p. 1352, doi. 10.1002/humu.22371
By:
- Daniels, M. Leigh Anne;
- Leigh, Margaret W.;
- Davis, Stephanie D.;
- Armstrong, Michael C.;
- Carson, Johnny L.;
- Hazucha, Milan;
- Dell, Sharon D.;
- Eriksson, Maria;
- Collins, Francis S.;
- Knowles, Michael R.;
- Zariwala, Maimoona A.
Publication type:
Article

Found: 57