Search Results - "Kidd AM"

A Novel Large Deletion Including the Major Regulatory Element Compounded with SEA Deletion Causing Hydrops-Fetalis-Syndrome.

Authors: Liu, Ping Wang, Jieyu Luo, Hongyu et al.

Source: Hemoglobin. Jul2025, Vol. 49 Issue 4, p289-293. 5p.

Expanding the clinical spectrum of pediatric ataxia-telangiectasia: a case series of novel genetic variants, lupus vulgaris, and hyper-IgM phenotypes.

Authors: Bakır, Damla Baysal Atay, Özge Yağmur, Halime et al.

Source: Orphanet Journal of Rare Diseases. 10/3/2025, Vol. 20 Issue 1, p1-11. 11p.

Let us take a walk to the sustainable tourism practices: a qualitative study through the lens of tourism experts.

Authors: Arya, Vikas Auruskeviciene, Vilte Agarwal, Srishti et al.

Source: Environmental Science & Pollution Research. Feb2024, Vol. 31 Issue 9, p12892-12915. 24p.

Reduced expression of phosphorylated ataxia-telangiectasia mutated gene is related to poor prognosis and gemcitabine chemoresistance in pancreatic cancer.

Authors: Xun, Jingyu Ohtsuka, Hideo Hirose, Katsuya et al.

Source: BMC Cancer. 9/6/2023, Vol. 23 Issue 1, p1-13. 13p.

Clinical and Molecular Analyses in 8 New Craniofrontonasal Syndrome Families: Revisiting the Mild End of the Phenotypic Spectrum in Females.

Authors: Altunoglu, Umut Karaman, Birsen Alanay, Yasemin et al.

Source: Turkish Archives of Pediatrics. Mar2025, Vol. 60 Issue 2, Preceding p191-203. 13p.

From gene to geometry: the molecular morphogenesis of the fourth ventricle angle and its role in predicting brainstem dysfunction among Chiari I malformation patients.

Authors: Alomari O Al Juhmani R Güney B et al.

Source: Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery [Childs Nerv Syst] 2026 May 15; Vol. 42 (1). Date of Electronic Publication: 2026 May 15.

Publication Type: Journal Article; Systematic Review; Meta-Analysis; Review

Journal Info: Publisher: Springer International Country of Publication: Germany NLM ID: 8503227 Publication Model: Electronic Cited Medium: Internet ISSN: 1433-0350 (Electronic) Linking ISSN: 02567040 NLM ISO Abbreviation: Childs Nerv Syst Subsets: MEDLINE

Dietitians Australia position statement on telehealth.

Authors: Kelly, Jaimon T. Allman‐Farinelli, Margaret Chen, Juliana et al.

Source: Nutrition & Dietetics. Sep2020, Vol. 77 Issue 4, p406-415.

A "Smurf-Cap" head requiring total cranial vault reshaping. A novel syndromic presentation of craniofrontonasal dysplasia associated with spina bifida.

Authors: Fragale M Giordano M Valle RD et al.

Source: Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery [Childs Nerv Syst] 2025 May 13; Vol. 41 (1), pp. 179. Date of Electronic Publication: 2025 May 13.

Publication Type: Journal Article; Case Reports

Journal Info: Publisher: Springer International Country of Publication: Germany NLM ID: 8503227 Publication Model: Electronic Cited Medium: Internet ISSN: 1433-0350 (Electronic) Linking ISSN: 02567040 NLM ISO Abbreviation: Childs Nerv Syst Subsets: MEDLINE

Mechanical Distension Induces Serotonin Release from Intestine as Revealed by Stretchable Electrochemical Sensing.

Authors: Liu, Yan‐Ling Chen, Yan Fan, Wen‐Ting et al.

Source: Angewandte Chemie International Edition. 3/2/2020, Vol. 59 Issue 10, p4075-4081. 7p.

SMARCB1-related schwannomatosis and other SMARCB1-associated phenotypes: clinical spectrum and molecular pathogenesis.

Authors: Kehrer-Sawatzki H Cooper DN

Source: Familial cancer [Fam Cancer] 2025 Aug 12; Vol. 24 (3), pp. 64. Date of Electronic Publication: 2025 Aug 12.

Publication Type: Journal Article; Review

Journal Info: Publisher: Springer Country of Publication: Netherlands NLM ID: 100898211 Publication Model: Electronic Cited Medium: Internet ISSN: 1573-7292 (Electronic) Linking ISSN: 13899600 NLM ISO Abbreviation: Fam Cancer Subsets: MEDLINE

Next-generation sequencing reveals a novel pathogenic variant in the ATM gene.

Authors: Pourahmadiyan, Azam Alipour, Paria Golchin, Neda et al.

Source: International Journal of Neuroscience. Jun2022, Vol. 132 Issue 6, p558-562. 5p.

Subjects: Nucleotide sequencing, Genetic variation, Ataxia telangiectasia, Genetic testing, Genetic counseling, Recessive genes, Molecular diagnosis

Geographic Terms: Iran

Evidence for cPLA2 activation in Alzheimer's disease synaptic pathology.

Authors: Ma QL Ebright B Li B et al.

Source: Acta neuropathologica communications [Acta Neuropathol Commun] 2026 Feb 12; Vol. 14 (1). Date of Electronic Publication: 2026 Feb 12.

Publication Type: Journal Article

Journal Info: Publisher: BioMed Central Country of Publication: England NLM ID: 101610673 Publication Model: Electronic Cited Medium: Internet ISSN: 2051-5960 (Electronic) Linking ISSN: 20515960 NLM ISO Abbreviation: Acta Neuropathol Commun Subsets: MEDLINE

Compound heterozygous variants including a novel copy number variation in a child with atypical ataxia-telangiectasia: a case report.

Authors: Lee, Hoo Young Jang, Dae-Hyun Kim, Jae-Won et al.

Source: BMC Medical Genomics. 8/17/2021, Vol. 14 Issue 1, p1-10. 10p.

Environmental Perception of Solid Waste Management in the Hurtado Balneary, Colombia.

Authors: Vargas, Nataylde Gutiérrez Bodah, Brian William Caballero, Brayan et al.

Source: Water, Air & Soil Pollution. Feb2024, Vol. 235 Issue 2, p1-22. 22p.

Two founder variants account for over 90% of pathogenic BRCA alleles in the Orkney and Shetland Isles in Scotland.

Authors: Kerr SM Klaric L Muckian MD et al.

Source: European journal of human genetics : EJHG [Eur J Hum Genet] 2024 Dec; Vol. 32 (12), pp. 1624-1631. Date of Electronic Publication: 2024 Oct 22.

Publication Type: Journal Article

Journal Info: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5438 (Electronic) Linking ISSN: 10184813 NLM ISO Abbreviation: Eur J Hum Genet Subsets: MEDLINE

The CARE Guidelines: Consensus-based Clinical Case Report Guideline Development.

Authors: Gagnier, Joel J. Kienle, Gunver Altman, Douglas G. et al.

Source: Journal of Dietary Supplements. Dec2013, Vol. 10 Issue 4, p381-390. 10p.

A bibliometric analysis of Australian general practice publications from 1980 to 2007 using PubMed.

Authors: Mendis, Kumara Kidd, Michael R. Schattner, Peter et al.

Source: Informatics in Primary Care. 2010, Vol. 18 Issue 4, p223-233. 11p. 10 Charts, 1 Graph.

Evaluation of ataxia–telangiectasia mutated IVS10 mutation in breast cancer along with clinicopathological parameters.

Authors: Ahuja, Sana Aneja, Himani Yadav, Amit et al.

Source: Journal of Mid-life Health. Oct-Dec2023, Vol. 14 Issue 4, p272-279. 8p.

Limited MOMP, ATM, and their roles in carcinogenesis and cancer treatment.

Authors: Bao, Xuhui Liu, Xinjian Li, Fang et al.

Source: Cell & Bioscience. 6/18/2020, Vol. 10 Issue 1, p1-10. 10p.

Structure of puromycin-sensitive aminopeptidase and polyglutamine binding.

Authors: Madabushi, Sowmya Chow, K. Martin Song, Eun Suk et al.

Source: PLoS ONE. 7/13/2023, Vol. 18 Issue 7, p1-28. 28p.