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  • 1-10 ل  34 نتائج ل ""Kidney Diseases, Cystic""

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Subject : cerebellar diseases
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Academic Journal

The genetic spectrum of congenital ocular motor apraxia type Cogan: an observational study, continued.

  • Authors : Schröder S; Interdisciplinary Pediatric Center for Children with Developmental Disabilities and Severe Chronic Disorders, Department of Pediatrics and Adolescent Medicine, University Medical Center, Göttingen, Germany.; Yigit G

Subjects: Cerebellar Diseases*/Cerebellar Diseases*/Cerebellar Diseases*/genetics ; Eye Abnormalities*/Eye Abnormalities*/Eye Abnormalities*/genetics ; Eye Abnormalities*/Eye Abnormalities*/Eye Abnormalities*/diagnosis Apraxia, oculomotor, Cogan type; Joubert syndrome 4; Agenesis of Cerebellar Vermis

  • Source: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2023 May 02; Vol. 18 (1), pp. 101. Date of Electronic Publication: 2023 May 02.Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172

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Mutations in B9D1 and MKS1 cause mild Joubert syndrome: expanding the genetic overlap with the lethal ciliopathy Meckel syndrome.

Subjects: Mutation*; Cerebellar Diseases/Cerebellar Diseases/Cerebellar Diseases/*genetics ; Ciliary Motility Disorders/Ciliary Motility Disorders/Ciliary Motility Disorders/*genetics Agenesis of Cerebellar Vermis; Meckel syndrome type 1

  • Source: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2014 May 05; Vol. 9, pp. 72. Date of Electronic Publication: 2014 May 05.Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172

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Academic Journal

Clinical utility gene card for: Joubert syndrome--update 2013.

  • Authors : Valente EM; 1] IRCCS Casa Sollievo della Sofferenza, Mendel Laboratory, San Giovanni Rotondo, Rome, Italy [2] Department of Medicine and Surgery, University of Salerno, Salerno, Italy.; Brancati F

Subjects: Cerebellar Diseases/Cerebellar Diseases/Cerebellar Diseases/*genetics ; Eye Abnormalities/Eye Abnormalities/Eye Abnormalities/*genetics ; Kidney Diseases, Cystic/Kidney Diseases, Cystic/Kidney Diseases, Cystic/*genetics Agenesis of Cerebellar Vermis

  • Source: European journal of human genetics : EJHG [Eur J Hum Genet] 2013 Oct; Vol. 21 (10). Date of Electronic Publication: 2013 Feb 13.Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Evolutionarily assembled cis-regulatory module at a human ciliopathy locus.

  • Authors : Lee JH; Neurogenetics Laboratory, Howard Hughes Medical Institute (HHMI), Department of Neurosciences, University of California, San Diego, CA, USA.; Silhavy JL

Subjects: Evolution, Molecular* ; Gene Expression Regulation* ; Genetic Loci* Joubert syndrome 2

  • Source: Science (New York, N.Y.) [Science] 2012 Feb 24; Vol. 335 (6071), pp. 966-9. Date of Electronic Publication: 2012 Jan 26.Publisher: American Association for the Advancement of Science Country of Publication: United States NLM ID: 0404511 Publication Model: Print-Electronic

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Academic Journal

NGAL as an early biomarker of kidney disease in Joubert syndrome: three brothers compared.

  • Authors : Lacquaniti A; Department of Internal Medicine, University of Messina, Messina, Italy.; Chirico V

Subjects: Early Diagnosis*; Biomarkers/Biomarkers/Biomarkers/*blood ; Cerebellar Diseases/Cerebellar Diseases/Cerebellar Diseases/*blood Agenesis of Cerebellar Vermis

  • Source: Renal failure [Ren Fail] 2012; Vol. 34 (4), pp. 495-8. Date of Electronic Publication: 2012 Jan 20.Publisher: Informa Healthcare Country of Publication: England NLM ID: 8701128 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disorders.

Subjects: Gene Frequency* ; Mutation* ; Phenotype*Agenesis of Cerebellar Vermis; Meckel syndrome type 1

  • Source: European journal of human genetics : EJHG [Eur J Hum Genet] 2013 Oct; Vol. 21 (10), pp. 1074-8. Date of Electronic Publication: 2013 Feb 06.Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

The diagnostic utility of exome sequencing in Joubert syndrome and related disorders.

  • Authors : Tsurusaki Y; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.; Kobayashi Y

Subjects: Exome* ; Sequence Analysis, DNA*; Cerebellar Diseases/Cerebellar Diseases/Cerebellar Diseases/*diagnosis Agenesis of Cerebellar Vermis

  • Source: Journal of human genetics [J Hum Genet] 2013 Feb; Vol. 58 (2), pp. 113-5. Date of Electronic Publication: 2012 Oct 04.Publisher: Nature Pub. Group Country of Publication: England NLM ID: 9808008 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Active transport and diffusion barriers restrict Joubert Syndrome-associated ARL13B/ARL-13 to an Inv-like ciliary membrane subdomain.

  • Authors : Cevik S; School of Biomolecular and Biomedical Science, University College Dublin, Belfield, Dublin, Ireland.; Sanders AA

Subjects: ADP-Ribosylation Factors/ADP-Ribosylation Factors/ADP-Ribosylation Factors/*genetics ; Caenorhabditis elegans/Caenorhabditis elegans/Caenorhabditis elegans/*genetics ; Cerebellar Diseases/Cerebellar Diseases/Cerebellar Diseases/*genetics Agenesis of Cerebellar Vermis; Meckel syndrome type 1; Nephronophthisis 3

  • Source: PLoS genetics [PLoS Genet] 2013; Vol. 9 (12), pp. e1003977. Date of Electronic Publication: 2013 Dec 05.Publisher: Public Library of Science Country of Publication: United States NLM ID: 101239074 Publication Model: Print-Electronic Cited Medium: Internet

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Academic Journal

Microcephaly-lymphedema-chorioretinal dysplasia associated with pachymicrogyria and atrophy of the cerebellar vermis: an integration of brain-ocular migration disorders.

  • Authors : Pastora N; Hospital Universitario La Paz, Pediatric Ophthalmology, Madrid, Spain. ; Peralta J

Subjects: Abnormalities, Multiple*; Cerebellar Diseases/Cerebellar Diseases/Cerebellar Diseases/*genetics ; Eye Abnormalities/Eye Abnormalities/Eye Abnormalities/*genetics Agenesis of Cerebellar Vermis; Lymphedema, microcephaly and chorioretinopathy syndrome

  • Source: Ophthalmic genetics [Ophthalmic Genet] 2012 Jun; Vol. 33 (2), pp. 116-8. Date of Electronic Publication: 2012 Mar 15.Publisher: Informa Healthcare Country of Publication: England NLM ID: 9436057 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Joubert syndrome presenting as unilateral dysplastic kidney, hypotonia, and respiratory problem.

  • Authors : Malaki M; Department of Pediatric Nephrology, Tabriz University of Medical Sciences, Tabriz, Iran. ; Nemati M

Subjects: Apnea/Apnea/Apnea/*etiology ; Cerebellar Diseases/Cerebellar Diseases/Cerebellar Diseases/*diagnosis ; Eye Abnormalities/Eye Abnormalities/Eye Abnormalities/*diagnosis Agenesis of Cerebellar Vermis

  • Source: Saudi journal of kidney diseases and transplantation : an official publication of the Saudi Center for Organ Transplantation, Saudi Publisher: Medknow Country of Publication: Saudi Arabia NLM ID: 9436968 Publication Model: Print Cited Medium: Print ISSN: 1319-2442 (Print)

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  • 1-10 ل  34 نتائج ل ""Kidney Diseases, Cystic""