Search Results - "Botella MP"

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USP15 inhibits hypoxia‐induced IL‐6 signaling by deubiquitinating and stabilizing MeCP2.

Authors: Zhang, Zi‐Tong Niu, Shu‐Xuan Yu, Chen‐Hao et al.

Source: FEBS Journal. Jan2025, Vol. 292 Issue 1, p153-167. 15p.

MCLMR综合征并发糖尿病1例.

Alternate Title: MCLMR complicated with diabetes: a case report.

Authors: 罗梅君 聂继 时立新 et al.

Source: Chinese Journal of Diabetes Mellitus. Sep2024, Vol. 16 Issue 9, p1052-1055. 4p.

Microcephaly with chorioretinal dysplasia: Two case reports and a review of the literature.

Authors: Gupta, Abha Vasudevan, P. Biswas, S. et al.

Source: Ophthalmic Genetics. Sep-Dec2009, Vol. 30 Issue 4, p157-160. 4p. 4 Color Photographs, 1 Black and White Photograph.

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

Authors: Pastora, Natalia Peralta, Jesus Canal-Fontcuberta, Irene et al.

Source: Ophthalmic Genetics. Jun2012, Vol. 33 Issue 2, p116-118. 3p.

A novel frameshift PKD1 mutation in a Chinese patient with autosomal dominant polycystic kidney disease and azoospermia: A case report.

Authors: Meng, Jialin Xu, Yuchen Shen, Xufeng et al.

Source: Experimental & Therapeutic Medicine. Jan2019, Vol. 17 Issue 1, p507-511. 5p.

CDKL5 gene status in female patients with epilepsy and Rett-like features: two new mutations in the catalytic domain.

Authors: Maortua, Hiart Mart¡nez-Bouzas, Cristina Calvo, Mar¡a-Teresa et al.

Source: BMC Medical Genetics. 2012, Vol. 13 Issue 1, p68-73. 6p. 1 Chart, 1 Graph.

Lissencephaly and Mild Cerebellar Vermis Hypoplasia in a Case of Microcephaly and Chorioretinal Dysplasia.

Authors: Lee, Byung Joo Kim, Jeong Hun Yu, Young Suk

Source: Ophthalmic Genetics. Jun2010, Vol. 31 Issue 2, p89-93. 5p. 1 Color Photograph, 1 Black and White Photograph, 1 Chart, 1 Graph.

Aicardi‐Goutières syndrome with muscle involvement in early infancy.

Authors: Deigendesch, N. Morales‐Gonzalez, S. Weschke, B. et al.

Source: Neuropathology & Applied Neurobiology. Dec2018, Vol. 44 Issue 7, p737-742. 6p.

Gliomas of the Optic Nerve: A SEER-Based Epidemiologic Study.

Authors: Dihowm F Alvarado LA Margo CE

Source: Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society [J Neuroophthalmol] 2022 Dec 01; Vol. 42 (4), pp. 462-469. Date of Electronic Publication: 2022 Jun 14.

Publication Type: Journal Article

Journal Info: Publisher: Lippincott Williams & Wilkins Country of Publication: United States NLM ID: 9431308 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1536-5166 (Electronic) Linking ISSN: 10708022 NLM ISO Abbreviation: J Neuroophthalmol Subsets: MEDLINE

No evidence of locus heterogeneity in familial microcephaly with or without chorioretinopathy, lymphedema, or mental retardation syndrome.

Authors: Schlögel, Matthieu J. Mendola, Antonella Fastré, Elodie et al.

Source: Orphanet Journal of Rare Diseases. Jun2015, Vol. 10 Issue 1, p1-11. 11p.

Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control study.

Authors: Rice GI Forte GM Szynkiewicz M et al.

Source: The Lancet. Neurology [Lancet Neurol] 2013 Dec; Vol. 12 (12), pp. 1159-69. Date of Electronic Publication: 2013 Oct 30.

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Lancet Pub. Group Country of Publication: England NLM ID: 101139309 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1474-4465 (Electronic) Linking ISSN: 14744422 NLM ISO Abbreviation: Lancet Neurol Subsets: MEDLINE

Microcephaly with or without chorioretinopathy, lymphoedema, or mental retardation (MCLMR): review of phenotype associated with KIF11 mutations.

Authors: Jones, Gabriela E Ostergaard, Pia Moore, Anthony T et al.

Source: European Journal of Human Genetics. Jul2014, Vol. 22 Issue 7, p881-887. 7p.

Blood gene expression profiling in pediatric systemic lupus erythematosus and systemic juvenile idiopathic arthritis: from bench to bedside.

Authors: Gilbert, Mileka Punaro, Marilynn

Source: Pediatric Rheumatology. 2014, Vol. 12 Issue 1, preceding p1-19. 19p.

Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation associated with KIF11 pathogenic variant: case report and genotype-phenotype correlation analysis.

Authors: Peng J Xie Y Wang H et al.

Source: BMC ophthalmology [BMC Ophthalmol] 2025 Jul 30; Vol. 25 (1), pp. 437. Date of Electronic Publication: 2025 Jul 30.

Publication Type: Journal Article; Case Reports

Journal Info: Publisher: BioMed Central Country of Publication: England NLM ID: 100967802 Publication Model: Electronic Cited Medium: Internet ISSN: 1471-2415 (Electronic) Linking ISSN: 14712415 NLM ISO Abbreviation: BMC Ophthalmol Subsets: MEDLINE

A novel approach to metabolic profiling in case models of MECP2-related disorders.

Authors: Cooley Coleman JA Moffitt BA Bridges WC et al.

Source: Metabolic brain disease [Metab Brain Dis] 2025 Feb 13; Vol. 40 (2), pp. 124. Date of Electronic Publication: 2025 Feb 13.

Publication Type: Journal Article

Journal Info: Publisher: Springer Country of Publication: United States NLM ID: 8610370 Publication Model: Electronic Cited Medium: Internet ISSN: 1573-7365 (Electronic) Linking ISSN: 08857490 NLM ISO Abbreviation: Metab Brain Dis Subsets: MEDLINE

A novel nonsense homozygous variant in the NLGN1 gene found in a pair of monozygotic twin brothers with intellectual disability and autism.

Authors: Tejada MI Elcoroaristizabal X Ibarluzea N et al.

Source: Clinical genetics [Clin Genet] 2019 Feb; Vol. 95 (2), pp. 339-340. Date of Electronic Publication: 2018 Nov 20.

Publication Type: Letter; Research Support, Non-U.S. Gov't; Twin Study

Journal Info: Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1399-0004 (Electronic) Linking ISSN: 00099163 NLM ISO Abbreviation: Clin Genet Subsets: MEDLINE

Functional Analyses of a Novel Splice Variant in the CHD7 Gene, Found by Next Generation Sequencing, Confirm Its Pathogenicity in a Spanish Patient and Diagnose Him with CHARGE Syndrome.

Authors: Villate O Ibarluzea N Fraile-Bethencourt E et al.

Source: Frontiers in genetics [Front Genet] 2018 Jan 26; Vol. 9, pp. 7. Date of Electronic Publication: 2018 Jan 26 (Print Publication: 2018).

Publication Type: Journal Article

Journal Info: Publisher: Frontiers Research Foundation Country of Publication: Switzerland NLM ID: 101560621 Publication Model: eCollection Cited Medium: Print ISSN: 1664-8021 (Print) Linking ISSN: 16648021 NLM ISO Abbreviation: Front Genet Subsets: PubMed not MEDLINE

Infectious and immunologic phenotype of MECP2 duplication syndrome.

Authors: Bauer M Kölsch U Krüger R et al.

Source: Journal of clinical immunology [J Clin Immunol] 2015 Feb; Vol. 35 (2), pp. 168-81. Date of Electronic Publication: 2015 Feb 27.

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Springer Country of Publication: Netherlands NLM ID: 8102137 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-2592 (Electronic) Linking ISSN: 02719142 NLM ISO Abbreviation: J Clin Immunol Subsets: MEDLINE

Toxicologia forense

Authors: Dorta, Daniel Junqueira Yonamine, Mauricio Costa, José Luiz da et al.

Resource Type: eBook.

Subjects: Forensic toxicology

Categories: MEDICAL / Forensic Medicine, MEDICAL / Toxicology