Clinical Features of Childhood Primary Ciliary Dyskinesia by Genotype and Ultrastructural Phenotype

High Nasal Nitric Oxide, Cilia Analyses, and Genotypes in a Retrospective Cohort of Children with Primary Ciliary Dyskinesia

Legendre, Marie
Thouvenin, Guillaume
Taytard, Jessica
Baron, Marguerite
Le Bourgeois, Muriel
Tamalet, Aline
Mani, Rahma
Jouvion, Gregory
Amselem, Serge
Escudier, Estelle
Beydon, Nicole

October 2022

International audienceRationale: Although children with primary ciliary dyskinesia (PCD) typically h...

Primary ciliary dyskinesia: Recent advances in diagnostics, genetics, and characterization of clinical disease

Knowles, M.R.
Daniels, L.A.
Davis, S.D.
Zariwala, M.A.
Leigh, M.W.

January 2013

Primary ciliary dyskinesia (PCD) is a genetically heterogeneous recessive disorder of motile cilia t...

Primary ciliary dyskinesia: a report from ATS 2001, May 18-23, San Francisco

Noone, Peadar G

June 2001

Abstract Primary ciliary dyskinesia (PCD) is a genetic disorder of abnormal ciliary structure and fu...

Clinical Features of Childhood Primary Ciliary Dyskinesia by Genotype and Ultrastructural Phenotype

Davis, Stephanie D.
Ferkol, Thomas W.
Rosenfeld, Margaret
Lee, Hye-Seung
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.

January 2015

Rationale: The relationship between clinical phenotype of childhood primary ciliary dyskinesia (PCD)...

Clinical features of childhood primary ciliary dyskinesia by genotype and ultrastructural phenotype

Davis, S.D.
Ferkol, T.W.
Rosenfeld, M.
Lee, H.-S.
Dell, S.D.
Sagel, S.D.
Milla, C.
Zariwala, M.A.
Pittman, J.E.
Shapiro, A.J.
Carson, J.L.
Krischer, J.P.
Hazucha, M.J.
Cooper, M.L.
Knowles, M.R.
Leigh, M.W.

January 2015

Rationale: The relationship between clinical phenotype of childhood primary ciliary dyskinesia (PCD)...

Primary ciliary dyskinesia: Longitudinal study of lung disease by ultrastructure defect and genotype

Davis, S.D.
Rosenfeld, M.
Lee, H.-S.
Ferkol, T.W.
Sagel, S.D.
Dell, S.D.
Milla, C.
Pittman, J.E.
Shapiro, A.J.
Sullivan, K.M.
Nykamp, K.R.
Krischer, J.P.
Zariwala, M.A.
Knowles, M.R.
Leigh, M.W.

January 2019

Rationale: In primary ciliary dyskinesia, factors leading to disease heterogeneity are poorly unders...

Clinical Features and Associated Likelihood of Primary Ciliary Dyskinesia in Children and Adolescents

Leigh, Margaret W.
Ferkol, Thomas W.
Davis, Stephanie D.
Lee, Hye-Seung
Rosenfeld, Margaret
Dell, Sharon D.
Sagel, Scott D.
Milla, Carlos
Olivier, Kenneth N.
Sullivan, Kelli M.
Zariwala, Maimoona A.
Pittman, Jessica E.
Shapiro, Adam J.
Carson, Johnny L.
Krischer, Jeffrey
Hazucha, Milan J.
Knowles, Michael R.

January 2016

Rationale: Primary ciliary dyskinesia (PCD), a genetically heterogeneous, recessive disorder of moti...

Primary Ciliary Dyskinesia: Longitudinal Study of Lung Disease by Ultrastructure Defect and Genotype

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.

January 2019

RATIONALE: In primary ciliary dyskinesia, factors leading to disease heterogeneity are poorly under...

Emerging genotype-phenotype relationships in primary ciliary dyskinesia

Brennan, Steven K
Ferkol, Thomas W
Davis, Stephanie D

January 2021

Primary ciliary dyskinesia (PCD) is a rare inherited condition affecting motile cilia and leading to...

Original articles Ciliary abnormalities in respiratory disease

R M Buchdahl
J Reiser
D Ingram
A Rutman
P J Cole
J Warner

October 2016

SUMMARY One hundred and sixty seven children, ranging in age from 5 weeks to 16 years, with chronic ...

Longitudinal lung volume changes by ultrastructure and genotype in primary ciliary dyskinesia

Pifferi M.
Bush A.
Mule G.
Gracci S.
Fonnesu R.
Michelucci A.
Cangiotti A.
Caligo M. A.
Miccoli M.
Boner A. L.
Peroni D.

January 2021

Rationale: Genotype-phenotype relationships are emerging in primary ciliary dyskinesia (PCD), but li...

Primary Ciliary Dyskinesia

Knowles, Michael R.
Zariwala, Maimoona
Leigh, Margaret

January 2016

Primary ciliary dyskinesia (PCD) is a recessive genetically heterogeneous disorder of motile cilia w...

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

Knowles, M.R.
Ostrowski, L.E.
Leigh, M.W.
Sears, P.R.
Davis, S.D.
Wolf, W.E.
Hazucha, M.J.
Carson, J.L.
Olivier, K.N.
Sagel, S.D.
Rosenfeld, M.
Ferkol, T.W.
Dell, S.D.
Milla, C.E.
Randell, S.H.
Yin, W.
Sannuti, A.
Metjian, H.M.
Noone, P.G.
Noone, P.J.
Olson, C.A.
Patrone, M.V.
Dang, H.
Lee, H.-S.
Hurd, T.W.
Gee, H.Y.
Otto, E.A.
Halbritter, J.
Kohl, S.
Kircher, M.
Krischer, J.
Bamshad, M.J.
Nickerson, D.A.
Hildebrandt, F.
Shendure, J.
Zariwala, M.A.

January 2014

Rationale: Primary ciliary dyskinesia (PCD) is a genetically heterogeneous recessive disorder of mot...

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

Shoemark, Amelia
Rubbo, Bruna
Legendre, Marie
Fassad, Mahmood R.
Haarman, Eric G.
Best, Sunayna
Bon, Irma C. M.
Brandsma, Joost
Burgel, Pierre-Regis
Carlsson, Gunnar
Carr, Siobhan B.
Carroll, Mary
Edwards, Matt
Escudier, Estelle
Honoré, Isabelle
Hunt, David
Jouvion, Gregory
Loebinger, Michel R.
Maitre, Bernard
Morris-Rosendahl, Deborah
Papon, Jean-Francois
Parsons, Camille M.
Patel, Mitali P.
Thomas, Simon N.
Thouvenin, Guillaume
Walker, Woolf T.
Wilson, Robert
Hogg, Claire
Mitchison, Hannah M.
Lucas, Jane S.

August 2021

Background: Primary ciliary dyskinesia (PCD) is a heterogeneous inherited disorder caused by mutatio...

Primary ciliary dyskinesia: improving the diagnostic approach

Leigh, Margaret W
Zariwala, Maimoona A
Knowles, Michael R

January 2009

The diagnosis of primary ciliary dyskinesia (PCD) has relied on analysis of ciliary motility and ult...

High Nasal Nitric Oxide, Cilia Analyses, and Genotypes in a Retrospective Cohort of Children with Primary Ciliary Dyskinesia

Legendre, Marie
Thouvenin, Guillaume
Taytard, Jessica
Baron, Marguerite
Le Bourgeois, Muriel
Tamalet, Aline
Mani, Rahma
Jouvion, Gregory
Amselem, Serge
Escudier, Estelle
Beydon, Nicole

October 2022

International audienceRationale: Although children with primary ciliary dyskinesia (PCD) typically h...

Primary ciliary dyskinesia: Recent advances in diagnostics, genetics, and characterization of clinical disease

Knowles, M.R.
Daniels, L.A.
Davis, S.D.
Zariwala, M.A.
Leigh, M.W.

January 2013

Primary ciliary dyskinesia (PCD) is a genetically heterogeneous recessive disorder of motile cilia t...

Primary ciliary dyskinesia: a report from ATS 2001, May 18-23, San Francisco

Noone, Peadar G

June 2001

Abstract Primary ciliary dyskinesia (PCD) is a genetic disorder of abnormal ciliary structure and fu...

Clinical Features of Childhood Primary Ciliary Dyskinesia by Genotype and Ultrastructural Phenotype

Davis, Stephanie D.
Ferkol, Thomas W.
Rosenfeld, Margaret
Lee, Hye-Seung
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.

January 2015

Rationale: The relationship between clinical phenotype of childhood primary ciliary dyskinesia (PCD)...

Clinical features of childhood primary ciliary dyskinesia by genotype and ultrastructural phenotype

Davis, S.D.
Ferkol, T.W.
Rosenfeld, M.
Lee, H.-S.
Dell, S.D.
Sagel, S.D.
Milla, C.
Zariwala, M.A.
Pittman, J.E.
Shapiro, A.J.
Carson, J.L.
Krischer, J.P.
Hazucha, M.J.
Cooper, M.L.
Knowles, M.R.
Leigh, M.W.

January 2015

Rationale: The relationship between clinical phenotype of childhood primary ciliary dyskinesia (PCD)...

Primary ciliary dyskinesia: Longitudinal study of lung disease by ultrastructure defect and genotype

Davis, S.D.
Rosenfeld, M.
Lee, H.-S.
Ferkol, T.W.
Sagel, S.D.
Dell, S.D.
Milla, C.
Pittman, J.E.
Shapiro, A.J.
Sullivan, K.M.
Nykamp, K.R.
Krischer, J.P.
Zariwala, M.A.
Knowles, M.R.
Leigh, M.W.

January 2019

Rationale: In primary ciliary dyskinesia, factors leading to disease heterogeneity are poorly unders...

Clinical Features and Associated Likelihood of Primary Ciliary Dyskinesia in Children and Adolescents

Leigh, Margaret W.
Ferkol, Thomas W.
Davis, Stephanie D.
Lee, Hye-Seung
Rosenfeld, Margaret
Dell, Sharon D.
Sagel, Scott D.
Milla, Carlos
Olivier, Kenneth N.
Sullivan, Kelli M.
Zariwala, Maimoona A.
Pittman, Jessica E.
Shapiro, Adam J.
Carson, Johnny L.
Krischer, Jeffrey
Hazucha, Milan J.
Knowles, Michael R.

January 2016

Rationale: Primary ciliary dyskinesia (PCD), a genetically heterogeneous, recessive disorder of moti...

Primary Ciliary Dyskinesia: Longitudinal Study of Lung Disease by Ultrastructure Defect and Genotype

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.

January 2019

RATIONALE: In primary ciliary dyskinesia, factors leading to disease heterogeneity are poorly under...

Emerging genotype-phenotype relationships in primary ciliary dyskinesia

Brennan, Steven K
Ferkol, Thomas W
Davis, Stephanie D

January 2021

Primary ciliary dyskinesia (PCD) is a rare inherited condition affecting motile cilia and leading to...

Original articles Ciliary abnormalities in respiratory disease

R M Buchdahl
J Reiser
D Ingram
A Rutman
P J Cole
J Warner

October 2016

SUMMARY One hundred and sixty seven children, ranging in age from 5 weeks to 16 years, with chronic ...

Longitudinal lung volume changes by ultrastructure and genotype in primary ciliary dyskinesia

Pifferi M.
Bush A.
Mule G.
Gracci S.
Fonnesu R.
Michelucci A.
Cangiotti A.
Caligo M. A.
Miccoli M.
Boner A. L.
Peroni D.

January 2021

Rationale: Genotype-phenotype relationships are emerging in primary ciliary dyskinesia (PCD), but li...

Primary Ciliary Dyskinesia

Knowles, Michael R.
Zariwala, Maimoona
Leigh, Margaret

January 2016

Primary ciliary dyskinesia (PCD) is a recessive genetically heterogeneous disorder of motile cilia w...

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

Knowles, M.R.
Ostrowski, L.E.
Leigh, M.W.
Sears, P.R.
Davis, S.D.
Wolf, W.E.
Hazucha, M.J.
Carson, J.L.
Olivier, K.N.
Sagel, S.D.
Rosenfeld, M.
Ferkol, T.W.
Dell, S.D.
Milla, C.E.
Randell, S.H.
Yin, W.
Sannuti, A.
Metjian, H.M.
Noone, P.G.
Noone, P.J.
Olson, C.A.
Patrone, M.V.
Dang, H.
Lee, H.-S.
Hurd, T.W.
Gee, H.Y.
Otto, E.A.
Halbritter, J.
Kohl, S.
Kircher, M.
Krischer, J.
Bamshad, M.J.
Nickerson, D.A.
Hildebrandt, F.
Shendure, J.
Zariwala, M.A.

January 2014

Rationale: Primary ciliary dyskinesia (PCD) is a genetically heterogeneous recessive disorder of mot...

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

Shoemark, Amelia
Rubbo, Bruna
Legendre, Marie
Fassad, Mahmood R.
Haarman, Eric G.
Best, Sunayna
Bon, Irma C. M.
Brandsma, Joost
Burgel, Pierre-Regis
Carlsson, Gunnar
Carr, Siobhan B.
Carroll, Mary
Edwards, Matt
Escudier, Estelle
Honoré, Isabelle
Hunt, David
Jouvion, Gregory
Loebinger, Michel R.
Maitre, Bernard
Morris-Rosendahl, Deborah
Papon, Jean-Francois
Parsons, Camille M.
Patel, Mitali P.
Thomas, Simon N.
Thouvenin, Guillaume
Walker, Woolf T.
Wilson, Robert
Hogg, Claire
Mitchison, Hannah M.
Lucas, Jane S.

August 2021

Background: Primary ciliary dyskinesia (PCD) is a heterogeneous inherited disorder caused by mutatio...

Primary ciliary dyskinesia: improving the diagnostic approach

Leigh, Margaret W
Zariwala, Maimoona A
Knowles, Michael R

January 2009

The diagnosis of primary ciliary dyskinesia (PCD) has relied on analysis of ciliary motility and ult...

High Nasal Nitric Oxide, Cilia Analyses, and Genotypes in a Retrospective Cohort of Children with Primary Ciliary Dyskinesia

Legendre, Marie
Thouvenin, Guillaume
Taytard, Jessica
Baron, Marguerite
Le Bourgeois, Muriel
Tamalet, Aline
Mani, Rahma
Jouvion, Gregory
Amselem, Serge
Escudier, Estelle
Beydon, Nicole

October 2022

International audienceRationale: Although children with primary ciliary dyskinesia (PCD) typically h...

Primary ciliary dyskinesia: Recent advances in diagnostics, genetics, and characterization of clinical disease

Knowles, M.R.
Daniels, L.A.
Davis, S.D.
Zariwala, M.A.
Leigh, M.W.

January 2013

Primary ciliary dyskinesia (PCD) is a genetically heterogeneous recessive disorder of motile cilia t...

Primary ciliary dyskinesia: a report from ATS 2001, May 18-23, San Francisco

Noone, Peadar G

June 2001

Abstract Primary ciliary dyskinesia (PCD) is a genetic disorder of abnormal ciliary structure and fu...

Clinical Features of Childhood Primary Ciliary Dyskinesia by Genotype and Ultrastructural Phenotype

Abstract

Extracted data

Clinical Features of Childhood Primary Ciliary Dyskinesia by Genotype and Ultrastructural Phenotype

Abstract

Extracted data

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