Limitations of Nasal Nitric Oxide Measurement for Diagnosis of Primary Ciliary Dyskinesia with Normal Ultrastructure

Raidt J; Krenz H; Tebbe J; Große-Onnebrink J; Olbrich H; Loges NT; Biebach L; Schmalstieg C; Keßler C; Wallmeier J; Dworniczak B; Pennekamp P; Dugas M; Werner C; Omran H (2022)

In: Annals of the American Thoracic Society, 19(8).

Forschungsartikel (Zeitschrift)

Systematic evaluation of olfaction in patients with hereditary cystic kidney diseases/renal ciliopathies

Dahmer-Heath, M., V. Schriever, S. Kollmann, C. Schleithoff, A. Titieni, M. Cetiner, L. Patzer, B. Tönshoff, M. Hansen, P. Pennekamp, J. Gerß, M. Konrad and J. König (2021)

In: Journal of Medical Genetics, 58(9).

Forschungsartikel (Zeitschrift)

The international primary ciliary dyskinesia (PCD) registry reports genotype/phenotype-correlations

Raidt J; Pennekamp P; Riepenhausen S; Krenz H; Helms S; Nöthe-Menchen T; Dworniczak B; Olbrich H; Loges NT; Große-Onnebrink J; Holgersen MG; Marthin JK; Nielsen KG; Dugas M; Omran H (2021)

In: European Respiratory Journal (Hrsg.), Monitoring airway disease. online: .

Forschungsartikel in Sammelband (Konferenz)

SPEF2- and HYDIN-Mutant Cilia Lack the Central Pair-associated Protein SPEF2, Aiding Primary Ciliary Dyskinesia Diagnostics

Cindrić S, Dougherty GW, Olbrich H, Hjeij R, Loges NT, Amirav I, Philipsen MC, Marthin JK, Nielsen KG, Sutharsan S, Raidt J, Werner C, Pennekamp P, Dworniczak B, Omran H (2020)

In: American Journal of Respiratory Cell and Molecular Biology, 62(3).

Forschungsartikel (Zeitschrift)

De Novo Mutations in FOXJ1 Result in a Motile Ciliopathy with Hydrocephalus and Randomization of Left/Right Body Asymmetry

Wallmeier J, Frank D, Shoemark A, Nöthe-Menchen T, Cindric S, Olbrich H, Loges NT, Aprea I, Dougherty GW, Pennekamp P, Kaiser T, Mitchison HM, Hogg C, Carr SB, Zariwala MA, Ferkol T, Leigh MW, Davis SD, Atkinson J, Dutcher SK, Knowles MR, Thiele H, Altmüller J, Krenz H, Wöste M, Brentrup A, Ahrens F, Vogelberg C, Morris-Rosendahl DJ, Omran H (2019)

In: American Journal of Human Genetics, 105(5).

Forschungsartikel (Zeitschrift)

Publikationen

Kontakt

Top-Links

Limitations of Nasal Nitric Oxide Measurement for Diagnosis of Primary Ciliary Dyskinesia with Normal Ultrastructure Raidt J; Krenz H; Tebbe J; Große-Onnebrink J; Olbrich H; Loges NT; Biebach L; Schmalstieg C; Keßler C; Wallmeier J; Dworniczak B; Pennekamp P; Dugas M; Werner C; Omran H (2022) In: Annals of the American Thoracic Society, 19(8). Forschungsartikel (Zeitschrift)
Refining Kidney Survival in 383 Genetically Characterized Patients With Nephronophthisis König JC, Karsay R, Gerß J, Schlingmann KP, Dahmer-Heath M, Telgmann AK, Kollmann S, Ariceta G, Gillion V, Bockenhauer D, Bertholet-Thomas A, Mastrangelo A, Boyer O, Lilien M, Decramer S, Schanstra JP, Pohl M, Schild R, Weber S, Hoefele J, Drube J, Cetiner M, Hansen M, Thumfart J, Tönshoff B, Habbig S, Liebau MC, Bald M, Bergmann C, Pennekamp P, Konrad M, NEOCYST consortium (2022) In: Kidney International Reports, 7(9). Forschungsartikel (Zeitschrift)
Systematic evaluation of olfaction in patients with hereditary cystic kidney diseases/renal ciliopathies Dahmer-Heath, M., V. Schriever, S. Kollmann, C. Schleithoff, A. Titieni, M. Cetiner, L. Patzer, B. Tönshoff, M. Hansen, P. Pennekamp, J. Gerß, M. Konrad and J. König (2021) In: Journal of Medical Genetics, 58(9). Forschungsartikel (Zeitschrift)
Defects in the cytoplasmic assembly of axonemal dynein arms cause morphological abnormalities and dysmotility in sperm cells leading to male infertility. Aprea, Isabella; Raidt, Johanna; Höben, Inga Marlena; Loges, Niki Tomas; Nöthe-Menchen, Tabea; Pennekamp, Petra; Olbrich, Heike; Kaiser, Thomas; Biebach, Luisa; Tüttelmann, Frank; Horvath, Judit; Schubert, Maria; Krallmann, Claudia; Kliesch, Sabine; Omran, Heymut (2021) In: PLOS Genetics, 17(2). Forschungsartikel (Zeitschrift)
The international primary ciliary dyskinesia (PCD) registry reports genotype/phenotype-correlations Raidt J; Pennekamp P; Riepenhausen S; Krenz H; Helms S; Nöthe-Menchen T; Dworniczak B; Olbrich H; Loges NT; Große-Onnebrink J; Holgersen MG; Marthin JK; Nielsen KG; Dugas M; Omran H (2021) In: European Respiratory Journal (Hrsg.), Monitoring airway disease. online: . Forschungsartikel in Sammelband (Konferenz)
Motility of efferent duct cilia aids passage of sperm cells through the male reproductive system. Aprea, Isabella; Nöthe-Menchen, Tabea; Dougherty, Gerard W; Raidt, Johanna; Loges, Niki T; Kaiser, Thomas; Wallmeier, Julia; Ulbrich, Heike; Strünker, Timo; Kliesch, Sabine; Pennekamp, Petra; Omran, Heymut (2021) In: Molecular Human Reproduction, 27(3). Forschungsartikel (Zeitschrift)
SPEF2- and HYDIN-Mutant Cilia Lack the Central Pair-associated Protein SPEF2, Aiding Primary Ciliary Dyskinesia Diagnostics Cindrić S, Dougherty GW, Olbrich H, Hjeij R, Loges NT, Amirav I, Philipsen MC, Marthin JK, Nielsen KG, Sutharsan S, Raidt J, Werner C, Pennekamp P, Dworniczak B, Omran H (2020) In: American Journal of Respiratory Cell and Molecular Biology, 62(3). Forschungsartikel (Zeitschrift)
Registries and collaborative studies for primary ciliary dyskinesia in Europe Ardura-Garcia C, Goutaki M, Carr SB, Crowley S, Halbeisen FS, Nielsen KG, Pennekamp P, Raidt J, Thouvenin G, Yiallouros PK, Omran H, Kuehni CE (2020) In: ERJ Open Research, 6(2). Forschungsartikel (Zeitschrift)
De Novo Mutations in FOXJ1 Result in a Motile Ciliopathy with Hydrocephalus and Randomization of Left/Right Body Asymmetry Wallmeier J, Frank D, Shoemark A, Nöthe-Menchen T, Cindric S, Olbrich H, Loges NT, Aprea I, Dougherty GW, Pennekamp P, Kaiser T, Mitchison HM, Hogg C, Carr SB, Zariwala MA, Ferkol T, Leigh MW, Davis SD, Atkinson J, Dutcher SK, Knowles MR, Thiele H, Altmüller J, Krenz H, Wöste M, Brentrup A, Ahrens F, Vogelberg C, Morris-Rosendahl DJ, Omran H (2019) In: American Journal of Human Genetics, 105(5). Forschungsartikel (Zeitschrift)
Randomization of Left-right Asymmetry and Congenital Heart Defects: The Role of DNAH5 in Humans and Mice Nöthe-Menchen T, Wallmeier J, Pennekamp P, Höben IM, Olbrich H, Loges NT, Raidt J, Dougherty GW, Hjeij R, Dworniczak B, Omran H (2019) In: Circulation: Genomic and Precision Medicine, 3. Forschungsartikel (Zeitschrift)