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Kasuistik einer früh im Lebensverlauf an Morbus Addison erkrankten 14 Jahre alten Patientin bei Verdachtsdiagnose einer Anorexia nervosa: Zum Verwechseln ähnlich und doch so verschieden?
- Published in:
- Zeitschrift für Kinder- und Jugendpsychiatrie und Psychotherapie, 2024, v. 52, n. 6, p. 354, doi. 10.1024/1422-4917/a000964
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- Publication type:
- Article
Tyrosine kinase 2 is not limiting human antiviral type III interferon responses.
- Published in:
- European Journal of Immunology, 2016, v. 46, n. 11, p. 2639, doi. 10.1002/eji.201646519
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- Publication type:
- Article
Phosphorylation by casein kinase 2 induces PACS-1 binding of nephrocystin and targeting to cilia.
- Published in:
- EMBO Journal, 2005, v. 24, n. 24, p. 4415, doi. 10.1038/sj.emboj.7600885
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- Publication type:
- Article
Current and Future Treatments in Primary Ciliary Dyskinesia.
- Published in:
- International Journal of Molecular Sciences, 2021, v. 22, n. 18, p. 9834, doi. 10.3390/ijms22189834
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- Publication type:
- Article
Study protocol, rationale and recruitment in a European multi-centre randomized controlled trial to determine the efficacy and safety of azithromycin maintenance therapy for 6 months in primary ciliary dyskinesia.
- Published in:
- 2016
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- Publication type:
- journal article
Heterotaxy and complex structural heart defects in a mutant mouse model of primary ciliary dyskinesia.
- Published in:
- 2007
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- Publication type:
- journal article
Far lateral supracerebellar infratentorial approach for the treatment of upper brainstem gliomas: clinical experience with pediatric patients.
- Published in:
- Child's Nervous System, 2005, v. 21, n. 12, p. 1037, doi. 10.1007/s00381-005-1140-6
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- Publication type:
- Article
Limitations of Nasal Nitric Oxide Measurement for Diagnosis of Primary Ciliary Dyskinesia with Normal Ultrastructure.
- Published in:
- 2022
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- Publication type:
- journal article
Motility of efferent duct cilia aids passage of sperm cells through the male reproductive system.
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- Molecular Human Reproduction, 2021, v. 27, n. 3, p. 1, doi. 10.1093/molehr/gaab009
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- Publication type:
- Article
The role of cilia for hydrocephalus formation.
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- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2022, v. 190, n. 1, p. 47, doi. 10.1002/ajmg.c.31972
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- Publication type:
- Article
Mutations in antiquitin in individuals with pyridoxine-dependent seizures.
- Published in:
- Nature Medicine, 2006, v. 12, n. 3, p. 307, doi. 10.1038/nm1366
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- Publication type:
- Article
SARS‐CoV‐2 targets neurons of 3D human brain organoids.
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- EMBO Journal, 2020, v. 39, n. 20, p. 1, doi. 10.15252/embj.2020106230
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- Publication type:
- Article
The nexin-dynein regulatory complex subunit DRC1 is essential for motile cilia function in algae and humans.
- Published in:
- Nature Genetics, 2013, v. 45, n. 3, p. 262, doi. 10.1038/ng.2533
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- Publication type:
- Article
Mutations in axonemal dynein assembly factor DNAAF3 cause primary ciliary dyskinesia.
- Published in:
- Nature Genetics, 2012, v. 44, n. 4, p. 381, doi. 10.1038/ng.1106
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- Publication type:
- Article
The coiled-coil domain containing protein CCDC40 is essential for motile cilia function and left-right axis formation.
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- Nature Genetics, 2011, v. 43, n. 1, p. 79, doi. 10.1038/ng.727
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- Publication type:
- Article
Mutations in a novel gene, NPHP3, cause adolescent nephronophthisis, tapeto-retinal degeneration and hepatic fibrosis.
- Published in:
- Nature Genetics, 2003, v. 34, n. 4, p. 455, doi. 10.1038/ng1216
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- Publication type:
- Article
Mutations in DNAH5 cause primary ciliary dyskinesia and randomization of left?right asymmetry.
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- Nature Genetics, 2002, v. 30, n. 2, p. 143, doi. 10.1038/ng817
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- Publication type:
- Article
Mutation of BSND causes Bartter syndrome with sensorineural deafness and kidney failure.
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- Nature Genetics, 2001, v. 29, n. 3, p. 310
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- Publication type:
- Article
RPGR mutations might cause reduced orientation of respiratory cilia.
- Published in:
- Pediatric Pulmonology, 2013, v. 48, n. 4, p. 352, doi. 10.1002/ppul.22632
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- Publication type:
- Article
Surgical treatment of hemangioblastomas of the central nervous system in pediatric patients.
- Published in:
- Child's Nervous System, 2006, v. 22, n. 9, p. 1149, doi. 10.1007/s00381-005-0018-y
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- Publication type:
- Article
Primäre Ciliäre Dyskinesie.
- Published in:
- Innere Medizin (2731-7080), 2024, v. 65, n. 6, p. 545, doi. 10.1007/s00108-024-01726-y
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- Publication type:
- Article
When cilia go bad: cilia defects and ciliopathies.
- Published in:
- 2008
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- Publication type:
- Correction Notice
When cilia go bad: cilia defects and ciliopathies.
- Published in:
- Nature Reviews Molecular Cell Biology, 2007, v. 8, n. 11, p. 880, doi. 10.1038/nrm2278
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- Publication type:
- Article
Amiodarone–sirolimus interaction in a neonate with tuberous sclerosis complex.
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- Cardiology in the Young, 2023, v. 33, n. 4, p. 655, doi. 10.1017/S1047951122002372
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- Publication type:
- Article
Identification and Analysis of Axonemal Dynein Light Chain 1 in Primary Ciliary Dyskinesia Patients.
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- American Journal of Respiratory Cell & Molecular Biology, 2005, v. 33, n. 1, p. 41, doi. 10.1165/rcmb.2004-0335OC
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- Publication type:
- Article
Homozygosity Mapping of a Gene Locus for Primary Ciliary Dyskinesia on Chromosome 5p and Identification of the Heavy Dynein Chain DNAH5 as a Candidate Gene.
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- American Journal of Respiratory Cell & Molecular Biology, 2000, v. 23, n. 5, p. 696, doi. 10.1165/ajrcmb.23.5.4257
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- Publication type:
- Article
Defects in the cytoplasmic assembly of axonemal dynein arms cause morphological abnormalities and dysmotility in sperm cells leading to male infertility.
- Published in:
- PLoS Genetics, 2021, v. 17, n. 2, p. 1, doi. 10.1371/journal.pgen.1009306
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- Publication type:
- Article
NMR spectroscopy of aminoacylase 1 deficiency, a novel inborn error of metabolism.
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- NMR in Biomedicine, 2008, v. 21, n. 2, p. 138, doi. 10.1002/nbm.1170
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- Publication type:
- Article
ENT manifestations in patients with primary ciliary dyskinesia: prevalence and significance of otorhinolaryngologic co-morbidities.
- Published in:
- European Archives of Oto-Rhino-Laryngology, 2011, v. 268, n. 3, p. 383, doi. 10.1007/s00405-010-1341-9
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- Publication type:
- Article
A novel X-linked recessive mental retardation syndrome comprising macrocephaly and ciliary dysfunction is allelic to oral–facial–digital type I syndrome.
- Published in:
- Human Genetics, 2006, v. 120, n. 2, p. 171, doi. 10.1007/s00439-006-0210-5
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- Publication type:
- Article
Mapping the Most Common Founder Variant in RSPH9 That Causes Primary Ciliary Dyskinesia in Multiple Consanguineous Families of Bedouin Arabs.
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- Journal of Clinical Medicine, 2023, v. 12, n. 20, p. 6505, doi. 10.3390/jcm12206505
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- Publication type:
- Article
Immunofluorescence analyses of respiratory epithelial cells aid the diagnosis of nephronophthisis.
- Published in:
- Pediatric Nephrology, 2024, v. 39, n. 12, p. 3471, doi. 10.1007/s00467-024-06443-0
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- Publication type:
- Article
<italic>DYNC2H1</italic> mutation causes Jeune syndrome and recurrent lung infections associated with ciliopathy.
- Published in:
- Clinical Respiratory Journal, 2018, v. 12, n. 3, p. 1017, doi. 10.1111/crj.12620
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- Publication type:
- Article
Cyclin O ( Ccno) functions during deuterosome-mediated centriole amplification of multiciliated cells.
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- EMBO Journal, 2015, v. 34, n. 8, p. 1078, doi. 10.15252/embj.201490805
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- Publication type:
- Article
Recessive Mutations in CFAP74 Cause Primary Ciliary Dyskinesia with Normal Ciliary Ultrastructure.
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- American Journal of Respiratory Cell & Molecular Biology, 2022, v. 67, n. 3, p. 409, doi. 10.1165/rcmb.2022-0032le
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- Publication type:
- Article
SPEF2- and HYDIN-Mutant Cilia Lack the Central Pair-associated Protein SPEF2, Aiding Primary Ciliary Dyskinesia Diagnostics.
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- American Journal of Respiratory Cell & Molecular Biology, 2020, v. 62, n. 3, p. 382, doi. 10.1165/rcmb.2019-0086OC
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- Publication type:
- Article
Ktu/PF13 is required for cytoplasmic pre-assembly of axonemal dyneins.
- Published in:
- Nature, 2008, v. 456, n. 7222, p. 611, doi. 10.1038/nature07471
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- Publication type:
- Article
Ciliary function and motor protein composition of human fallopian tubes.
- Published in:
- 2015
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- Publication type:
- journal article
Extracorporeal Membrane Oxygenation in Children With Cancer or Hematopoietic Cell Transplantation: Single-Center Experience in 20 Consecutive Patients.
- Published in:
- Frontiers in Oncology, 2021, v. 11, p. N.PAG, doi. 10.3389/fonc.2021.664928
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- Publication type:
- Article
A reach-out system for video microscopy analysis of ciliary motions aiding PCD diagnosis.
- Published in:
- BMC Research Notes, 2015, v. 8, n. 1, p. 1, doi. 10.1186/s13104-015-0999-x
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- Publication type:
- Article
Imbalanced mitochondrial function provokes heterotaxy via aberrant ciliogenesis.
- Published in:
- 2019
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- Publication type:
- journal article
First Reported Nosocomial Outbreak of Severe Acute Respiratory Syndrome Coronavirus 2 in a Pediatric Dialysis Unit.
- Published in:
- Clinical Infectious Diseases, 2021, v. 72, n. 2, p. 265, doi. 10.1093/cid/ciaa491
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- Publication type:
- Article
Autosomal recessive rippling muscle disease with homozygous CAV3 mutations.
- Published in:
- Annals of Neurology, 2005, v. 57, n. 2, p. 303
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- 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
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- Publication type:
- Article
Mislocalization of DNAH5 and DNAH9 in respiratory cells from patients with primary ciliary dyskinesia.
- Published in:
- 2005
- By:
- Publication type:
- journal article
Aminoacylase 1 deficiency associated with autistic behavior.
- Published in:
- Journal of Inherited Metabolic Disease, 2010, v. 33, p. 211, doi. 10.1007/s10545-010-9089-3
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- Publication type:
- Article
NPHP proteins: gatekeepers of the ciliary compartment.
- Published in:
- Journal of Cell Biology, 2010, v. 190, n. 5, p. 715, doi. 10.1083/jcb.201008080
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- Publication type:
- Article
The von Hippel-Lindau tumor suppressor protein controls ciliogenesis by orienting microtubule growth.
- Published in:
- Journal of Cell Biology, 2006, v. 175, n. 4, p. 547, doi. 10.1083/jcb.200605092
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- Publication type:
- Article
L1CAM mutation in a boy with hydrocephalus and duplex kidneys.
- Published in:
- 2007
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- Publication type:
- Report
Nephrocystin and ciliary defects not only in the kidney?
- Published in:
- 2007
- By:
- Publication type:
- Editorial