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Evidence for further genetic heterogeneity in nephronophthisis.
- Published in:
- Nephrology Dialysis Transplantation, 2001, v. 16, n. 4, p. 755, doi. 10.1093/ndt/16.4.755
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- Publication type:
- Article
Exclusion of the candidate genes ACE and Bcl-2 for six families with nephronophthisis not linked to the NPH1 locus.
- Published in:
- Nephrology Dialysis Transplantation, 1999, v. 14, n. 10, p. 2328, doi. 10.1093/ndt/14.10.2328
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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
Primary Ciliary Dyskinesia Associated Disease-Causing Variants in CCDC39 and CCDC40 Cause Axonemal Absence of Inner Dynein Arm Heavy Chains DNAH1, DNAH6, and DNAH7.
- Published in:
- Cells (2073-4409), 2024, v. 13, n. 14, p. 1200, doi. 10.3390/cells13141200
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- Publication type:
- Article
Biallelic Variants in MNS1 Are Associated with Laterality Defects and Respiratory Involvement.
- Published in:
- Cells (2073-4409), 2024, v. 13, n. 12, p. 1017, doi. 10.3390/cells13121017
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- Publication type:
- Article
Amiodarone–sirolimus interaction in a neonate with tuberous sclerosis complex.
- Published in:
- Cardiology in the Young, 2023, v. 33, n. 4, p. 655, doi. 10.1017/S1047951122002372
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- Publication type:
- Article
Target discovery screens using pooled shRNA libraries and next-generation sequencing: A model workflow and analytical algorithm.
- Published in:
- PLoS ONE, 2018, v. 13, n. 1, p. 1, doi. 10.1371/journal.pone.0191570
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- Publication type:
- 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
SPEF2- and HYDIN-Mutant Cilia Lack the Central Pair-associated Protein SPEF2, Aiding Primary Ciliary Dyskinesia Diagnostics.
- Published in:
- 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
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
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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.
- Published in:
- 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
NMR spectroscopy of aminoacylase 1 deficiency, a novel inborn error of metabolism.
- Published in:
- NMR in Biomedicine, 2008, v. 21, n. 2, p. 138, doi. 10.1002/nbm.1170
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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
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
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
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
Dysfunction of axonemal dynein heavy chain Mdnah5 inhibits ependymal flow and reveals a novel mechanism for hydrocephalus formation.
- Published in:
- Human Molecular Genetics, 2004, v. 13, n. 18, p. 2133, doi. 10.1093/hmg/ddh219
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- Publication type:
- Article
Motility of efferent duct cilia aids passage of sperm cells through the male reproductive system.
- Published in:
- Molecular Human Reproduction, 2021, v. 27, n. 3, p. 1, doi. 10.1093/molehr/gaab009
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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
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
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
Analysis of BRAF V600E mutation in 1,320 nervous system tumors reveals high mutation frequencies in pleomorphic xanthoastrocytoma, ganglioglioma and extra-cerebellar pilocytic astrocytoma.
- Published in:
- Acta Neuropathologica, 2011, v. 121, n. 3, p. 397, doi. 10.1007/s00401-011-0802-6
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- Publication type:
- Article
Comparison of Nocturnal Cough Analysis in Healthy Subjects and in Patients with Cystic Fibrosis and Primary Ciliary Dyskinesia: A Prospective Observational Study.
- Published in:
- Respiration, 2018, v. 97, n. 1, p. 60, doi. 10.1159/000493323
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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
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
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.
- Published in:
- 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
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
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- Publication type:
- Editorial
Identification of the human CYS1 gene and candidate gene analysis in Boichis disease.
- Published in:
- Pediatric Nephrology, 2003, v. 18, n. 6, p. 498, doi. 10.1007/s00467-003-1141-1
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- Publication type:
- Article
Two novel mutations of the gene for K[sub ir] 1.1 (ROMK) in neonatal Bartter syndrome.
- Published in:
- Pediatric Nephrology, 1998, v. 12, n. 1, p. 69, doi. 10.1007/s004670050408
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- Publication type:
- Article
The role of cilia for hydrocephalus formation.
- Published in:
- 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
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
Novel pathogenic variants of DNAH5 associated with clinical and genetic spectra of primary ciliary dyskinesia in an Arab population.
- Published in:
- Frontiers in Genetics, 2024, p. 1, doi. 10.3389/fgene.2024.1396797
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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
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
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- Publication type:
- Article
Mutation of BSND causes Bartter syndrome with sensorineural deafness and kidney failure.
- Published in:
- Nature Genetics, 2001, v. 29, n. 3, p. 310
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- Publication type:
- Article
Recessive Mutations in CFAP74 Cause Primary Ciliary Dyskinesia with Normal Ciliary Ultrastructure.
- Published in:
- 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
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
Identification of a novel founder variant in DNAI2 cause primary ciliary dyskinesia in five consanguineous families derived from a single tribe descendant of Arabian Peninsula.
- Published in:
- Frontiers in Genetics, 2022, v. 13, p. 01, doi. 10.3389/fgene.2022.1017280
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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
Prevalence and course of disease after lung resection in primary ciliary dyskinesia: a cohort & nested case-control study.
- Published in:
- 2019
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- Publication type:
- journal article
Imbalanced mitochondrial function provokes heterotaxy via aberrant ciliogenesis.
- Published in:
- 2019
- By:
- Publication type:
- journal article
Heterotaxy and complex structural heart defects in a mutant mouse model of primary ciliary dyskinesia.
- Published in:
- 2007
- By:
- Publication type:
- journal 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