Suchergebnisse - "Rare Diseases"

"I don't grieve as much as I used to": A qualitative study on parents of children with rare and undiagnosed conditions navigating grief in the context of uncertainty.

Autoren: Hoffmann TM Friedrich B Lewis C

Quelle: Journal of genetic counseling [J Genet Couns] 2025 Dec; Vol. 34 (6), pp. e70149.

Publikationsart: Journal Article

Info zur Zeitschrift: Publisher: Wiley Country of Publication: United States NLM ID: 9206865 Publication Model: Print Cited Medium: Internet ISSN: 1573-3599 (Electronic) Linking ISSN: 10597700 NLM ISO Abbreviation: J Genet Couns Subsets: MEDLINE

MeSH-Schlagworte: Grief* , Parents*/psychology , Rare Diseases*/psychology , Rare Diseases*/genetics, Humans ; Uncertainty ; Qualitative Research ; Female ; Male ; Child ; Adult ; Adaptation, Psychological ; Middle Aged ; Adolescent

Artificial intelligence in rare diseases: toward clinical impact.

Autoren: Amorim AMB Orzeł U Caniceiro AB et al.

Quelle: Trends in pharmacological sciences [Trends Pharmacol Sci] 2025 Dec; Vol. 46 (12), pp. 1241-1268. Date of Electronic Publication: 2025 Nov 25.

Publikationsart: Journal Article; Review

Info zur Zeitschrift: Publisher: Published By Elsevier In Association With The International Union Of Pharmacology Country of Publication: England NLM ID: 7906158 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1873-3735 (Electronic) Linking ISSN: 01656147 NLM ISO Abbreviation: Trends Pharmacol Sci Subsets: MEDLINE

MeSH-Schlagworte: Artificial Intelligence* , Rare Diseases*/diagnosis , Rare Diseases*/therapy, Humans

[Gene therapy methods for rare ophthalmological diseases in the light of distributional justice-An overview].

Transliterierter Titel: Gentherapeutische Behandlungsmethoden für seltene ophthalmologische Erkrankungen im Lichte der Verteilungsgerechtigkeit – eine Übersicht.

Autoren: Fluck C; Juristische und Wirtschaftswissenschaftliche Fakultät, Juristischer Bereich - Lehrstuhl für Öffentliches Recht, Martin-Luther-Universität Halle-Wittenberg, Universitätsplatz 3-5, 06099, Halle (Saale), Deutschland. carsten-trevor.fluck@jura.uni-halle.de.

Quelle: Die Ophthalmologie [Ophthalmologie] 2025 Dec; Vol. 122 (12), pp. 969-975. Date of Electronic Publication: 2025 Aug 27.

Publikationsart: English Abstract; Journal Article; Review

Info zur Zeitschrift: Publisher: Springer Medizin Country of Publication: Germany NLM ID: 9918402288106676 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2731-7218 (Electronic) Linking ISSN: 2731720X NLM ISO Abbreviation: Ophthalmologie Subsets: MEDLINE

MeSH-Schlagworte: Genetic Therapy*/economics , Genetic Therapy*/ethics , Genetic Therapy*/methods , Rare Diseases*/therapy , Rare Diseases*/economics , Rare Diseases*/genetics , Eye Diseases*/therapy , Eye Diseases*/economics , Eye Diseases*/genetics , Social Justice*/ethics , Health Care Rationing*/ethics , Health Care Rationing*/economics, Humans ; Germany

Epistemic injustice suffered by patients with rare diseases, poorly understood diseases, and underdiagnosed diseases, and the epistemic advantage granted by these diseases.

Autoren: Tosas MR; Blanquerna School of Health Sciences at Ramon Llull University, Barcelona, Spain. mariadelmarrt1@blanquerna.url.edu.

Quelle: Medicine, health care, and philosophy [Med Health Care Philos] 2025 Dec; Vol. 28 (4), pp. 693-705. Date of Electronic Publication: 2025 Jul 29.

Publikationsart: Journal Article; Review

Info zur Zeitschrift: Publisher: Kluwer Academic Publishers Country of Publication: Netherlands NLM ID: 9815900 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1572-8633 (Electronic) Linking ISSN: 13867423 NLM ISO Abbreviation: Med Health Care Philos Subsets: MEDLINE

MeSH-Schlagworte: Rare Diseases*/psychology , Rare Diseases*/diagnosis , Knowledge* , Social Justice*, Humans ; Philosophy, Medical

Addressing unmet needs in pregnancy and family planning of people living with rare and low-prevalence diseases: results of the "ERN transversal working group on pregnancy and family planning" survey.

Autoren: Fulvio G Marinello D Zucchi D et al.

Quelle: Reproductive health [Reprod Health] 2025 Nov 25; Vol. 22 (1), pp. 240. Date of Electronic Publication: 2025 Nov 25.

Publikationsart: Journal Article

Info zur Zeitschrift: Publisher: BioMed Central Country of Publication: England NLM ID: 101224380 Publication Model: Electronic Cited Medium: Internet ISSN: 1742-4755 (Electronic) Linking ISSN: 17424755 NLM ISO Abbreviation: Reprod Health Subsets: MEDLINE

MeSH-Schlagworte: Family Planning Services* , Rare Diseases*/epidemiology , Rare Diseases*/therapy , Health Services Needs and Demand*, Humans ; Female ; Pregnancy ; Adult ; Europe/epidemiology ; Surveys and Questionnaires ; Prevalence ; Middle Aged ; Male

Alternative start codon selection shapes mitochondrial function and rare human diseases.

Autoren: Ly J Di Bernardo M Tao YF et al.

Quelle: Molecular cell [Mol Cell] 2025 Nov 20; Vol. 85 (22), pp. 4198-4214.e11. Date of Electronic Publication: 2025 Nov 07.

Publikationsart: Journal Article

Info zur Zeitschrift: Publisher: Cell Press Country of Publication: United States NLM ID: 9802571 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1097-4164 (Electronic) Linking ISSN: 10972765 NLM ISO Abbreviation: Mol Cell Subsets: MEDLINE

MeSH-Schlagworte: Mitochondria*/genetics , Mitochondria*/metabolism , Mitochondria*/pathology , Rare Diseases*/genetics , Rare Diseases*/metabolism , Rare Diseases*/pathology , Codon, Initiator*/genetics , Mitochondrial Proteins*/genetics , Mitochondrial Proteins*/metabolism, Humans ; Protein Isoforms/genetics ; Protein Isoforms/metabolism ; Evolution, Molecular ; Frameshift Mutation ; Alleles ; Animals ; Codon, Nonsense

Diagnostic yield of array-CGH in children with suspected rare disease.

Autoren: Criado-Muriel MC Arroyo-Ruiz R Marcos-Vadillo E et al.

Quelle: Jornal de pediatria [J Pediatr (Rio J)] 2025 Nov-Dec; Vol. 101 (6), pp. 101450. Date of Electronic Publication: 2025 Oct 17.

Publikationsart: Journal Article; Observational Study

Info zur Zeitschrift: Publisher: Elsevier Editora Ltd Country of Publication: Brazil NLM ID: 2985188R Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1678-4782 (Electronic) Linking ISSN: 00217557 NLM ISO Abbreviation: J Pediatr (Rio J) Subsets: MEDLINE

MeSH-Schlagworte: Rare Diseases*/diagnosis , Rare Diseases*/genetics , Comparative Genomic Hybridization*/methods, Humans ; Male ; Female ; Child ; Child, Preschool ; Infant ; DNA Copy Number Variations/genetics ; Phenotype ; Adolescent

EndoCompass project: rare diseases in endocrinology.

Autoren: Pereira AM Hiort O

Quelle: European journal of endocrinology [Eur J Endocrinol] 2025 Oct 17; Vol. 193 (Supplement_2), pp. ii128-ii131.

Publikationsart: Journal Article

Info zur Zeitschrift: Publisher: Oxford University Press Country of Publication: England NLM ID: 9423848 Publication Model: Print Cited Medium: Internet ISSN: 1479-683X (Electronic) Linking ISSN: 08044643 NLM ISO Abbreviation: Eur J Endocrinol Subsets: MEDLINE

MeSH-Schlagworte: Rare Diseases*/epidemiology , Rare Diseases*/therapy , Rare Diseases*/diagnosis , Endocrinology*/organization & administration , Biomedical Research* , Endocrine System Diseases*/epidemiology , Endocrine System Diseases*/therapy, Humans ; European Union ; Registries ; Databases, Factual

Genetic rare disease prevention and control: Family-based screening and reproductive interventions in Changsha.

Autoren: Lin G He J Wang Y et al.

Quelle: HGG advances [HGG Adv] 2025 Oct 09; Vol. 6 (4), pp. 100496. Date of Electronic Publication: 2025 Aug 18.

Publikationsart: Journal Article

Info zur Zeitschrift: Publisher: Elsevier Inc Country of Publication: United States NLM ID: 101772885 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2666-2477 (Electronic) Linking ISSN: 26662477 NLM ISO Abbreviation: HGG Adv Subsets: MEDLINE

MeSH-Schlagworte: Genetic Testing*/methods , Rare Diseases*/prevention & control , Rare Diseases*/genetics , Rare Diseases*/diagnosis , Rare Diseases*/epidemiology, Humans ; Female ; China/epidemiology ; Male ; Adult

Refining rare disease variant discovery in an isolated Andean community through imputation-enhanced IBD and kinship inference from whole exome sequencing data.

Autoren: Gaviria-Sabogal CC Bernal IT Sánchez-Gómez Y et al.

Quelle: Human molecular genetics [Hum Mol Genet] 2025 Oct 05; Vol. 34 (20), pp. 1733-1743.

Publikationsart: Journal Article

Info zur Zeitschrift: Publisher: IRL Press at Oxford University Press Country of Publication: England NLM ID: 9208958 Publication Model: Print Cited Medium: Internet ISSN: 1460-2083 (Electronic) Linking ISSN: 09646906 NLM ISO Abbreviation: Hum Mol Genet Subsets: MEDLINE

MeSH-Schlagworte: Exome Sequencing*/methods , Rare Diseases*/genetics , Rare Diseases*/epidemiology, Humans ; Pedigree ; Consanguinity ; Colombia ; Male ; Female ; Homozygote ; Genetic Predisposition to Disease ; Genotype ; Exome/genetics ; Polymorphism, Single Nucleotide

First-Tier Versus Last-Tier Trio Whole-Genome Sequencing for the Diagnosis of Pediatric-Onset Rare Diseases.

Autoren: Lucca C Rosina E Pezzani L et al.

Quelle: Clinical genetics [Clin Genet] 2025 Oct; Vol. 108 (4), pp. 412-421. Date of Electronic Publication: 2025 Apr 24.

Publikationsart: Journal Article

Info zur Zeitschrift: 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

MeSH-Schlagworte: Whole Genome Sequencing*/methods , Rare Diseases*/genetics , Rare Diseases*/diagnosis , Genetic Testing*/methods, Humans ; Child ; Male ; Female ; Child, Preschool ; Infant ; Adolescent ; Exome Sequencing ; Infant, Newborn ; Genetic Predisposition to Disease

Oral health in children with rare diseases and gastrostomy tubes: A retrospective database cohort study.

Autoren: Magnéli AN Sabel N Krekmanova L et al.

Quelle: Nutrition in clinical practice : official publication of the American Society for Parenteral and Enteral Nutrition [Nutr Clin Pract] 2025 Oct; Vol. 40 (5), pp. 1158-1165. Date of Electronic Publication: 2025 Aug 05.

Publikationsart: Journal Article

Info zur Zeitschrift: Publisher: Wiley Country of Publication: United States NLM ID: 8606733 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1941-2452 (Electronic) Linking ISSN: 08845336 NLM ISO Abbreviation: Nutr Clin Pract Subsets: MEDLINE

MeSH-Schlagworte: Gastrostomy*/adverse effects , Oral Health*/statistics & numerical data , Rare Diseases*/complications , Rare Diseases*/epidemiology , Mouth Diseases*/epidemiology, Humans ; Child ; Retrospective Studies ; Child, Preschool ; Female ; Male ; Adolescent ; Gingivitis/epidemiology ; Databases, Factual ; Vomiting/epidemiology ; Dental Caries/epidemiology ; Cohort Studies

Hydroxyethylamine & phthalimide analogs restoring defects due to GNE dysfunction: rare disease therapeutic significance.

Autoren: Singh S Bansal M Sharma N et al.

Quelle: Molecular medicine (Cambridge, Mass.) [Mol Med] 2025 Dec 03; Vol. 31 (1), pp. 334. Date of Electronic Publication: 2025 Dec 03.

Publikationsart: Journal Article

Info zur Zeitschrift: Publisher: BioMed Central Country of Publication: England NLM ID: 9501023 Publication Model: Electronic Cited Medium: Internet ISSN: 1528-3658 (Electronic) Linking ISSN: 10761551 NLM ISO Abbreviation: Mol Med Subsets: MEDLINE

MeSH-Schlagworte: Phthalimides*/pharmacology , Phthalimides*/chemistry , Multienzyme Complexes*/metabolism , Multienzyme Complexes*/genetics , Multienzyme Complexes*/chemistry , Rare Diseases*/drug therapy , Rare Diseases*/metabolism , Rare Diseases*/genetics , Distal Myopathies*/drug therapy , Distal Myopathies*/metabolism , Distal Myopathies*/genetics, Humans ; Mutation ; Animals

SCR Disease Name: Distal myopathy, Nonaka type

Quantifying coding integrity and reliability of ICD-11 MMS for rare disease registration: a case study of the Chinese rare disease catalogue.

Autoren: Bai X Guo J Zhang M et al.

Quelle: BMC medical informatics and decision making [BMC Med Inform Decis Mak] 2025 Dec 03; Vol. 25 (1), pp. 440. Date of Electronic Publication: 2025 Dec 03.

Publikationsart: Journal Article

Info zur Zeitschrift: Publisher: BioMed Central Country of Publication: England NLM ID: 101088682 Publication Model: Electronic Cited Medium: Internet ISSN: 1472-6947 (Electronic) Linking ISSN: 14726947 NLM ISO Abbreviation: BMC Med Inform Decis Mak Subsets: MEDLINE

MeSH-Schlagworte: International Classification of Diseases*/standards , Rare Diseases*/epidemiology , Rare Diseases*/classification , Clinical Coding*/standards , Registries*/standards, Humans ; China/epidemiology ; Reproducibility of Results ; East Asian People

Gender-specific insights on parenting children with rare diseases through multiple mediation analyses within the double ABCX model.

Autoren: Boettcher J Zapf H Hohmann S et al.

Quelle: Research in developmental disabilities [Res Dev Disabil] 2025 Dec; Vol. 167, pp. 105160. Date of Electronic Publication: 2025 Nov 10.

Publikationsart: Journal Article; Multicenter Study

Info zur Zeitschrift: Publisher: Pergamon Press Country of Publication: United States NLM ID: 8709782 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1873-3379 (Electronic) Linking ISSN: 08914222 NLM ISO Abbreviation: Res Dev Disabil Subsets: MEDLINE

MeSH-Schlagworte: Adaptation, Psychological* , Parenting*/psychology , Stress, Psychological*/psychology , Mothers*/psychology , Rare Diseases*/psychology , Depression*/psychology , Anxiety*/psychology , Fathers*/psychology , Parents*/psychology, Humans ; Female ; Male ; Adult ; Social Support ; Child ; Cross-Sectional Studies ; Sex Factors ; Mediation Analysis ; Middle Aged

Innovations and Best Practices for Therapeutic Development in Pediatric Rare Diseases: A Model-Informed Drug Development Perspective.

Autoren: Krishna R Suryawanshi S Rascher J et al.

Quelle: Clinical pharmacology and therapeutics [Clin Pharmacol Ther] 2025 Dec; Vol. 118 (6), pp. 1276-1285. Date of Electronic Publication: 2025 Apr 16.

Publikationsart: Journal Article; Review

Info zur Zeitschrift: Publisher: Wiley Country of Publication: United States NLM ID: 0372741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1532-6535 (Electronic) Linking ISSN: 00099236 NLM ISO Abbreviation: Clin Pharmacol Ther Subsets: MEDLINE

MeSH-Schlagworte: Rare Diseases*/drug therapy , Rare Diseases*/diagnosis , Drug Development*/methods , Models, Biological* , Pediatrics*/methods, Humans ; Child ; Computer Simulation

Neurodevelopmental Phenotyping and Genotyping in the Pediatric National Institute of Health Undiagnosed Disease Program.

Autoren: Adedipe D Thurm A Joseph L et al.

Quelle: American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics [Am J Med Genet B Neuropsychiatr Genet] 2025 Dec; Vol. 198 (8), pp. 230-240. Date of Electronic Publication: 2025 Jul 22.

Publikationsart: Journal Article

Info zur Zeitschrift: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235742 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-485X (Electronic) Linking ISSN: 15524841 NLM ISO Abbreviation: Am J Med Genet B Neuropsychiatr Genet Subsets: MEDLINE

MeSH-Schlagworte: Neurodevelopmental Disorders*/genetics , Neurodevelopmental Disorders*/diagnosis , Neurodevelopmental Disorders*/epidemiology , Rare Diseases*/genetics , Rare Diseases*/diagnosis, Humans ; Child ; Phenotype ; United States/epidemiology ; Female ; Male ; National Institutes of Health (U.S.) ; Child, Preschool ; Adolescent ; Genotype ; Intellectual Disability/genetics ; Intellectual Disability/diagnosis ; Infant ; Genetic Testing

Cost-comparison of resequencing versus archival data methods for periodic reanalysis of genomic data in rare diseases diagnosis: A UK pilot analysis.

Autoren: More RP Sumathipala D Dolling H et al.

Quelle: European journal of medical genetics [Eur J Med Genet] 2025 Dec; Vol. 78, pp. 105051. Date of Electronic Publication: 2025 Sep 29.

Publikationsart: Journal Article; Comparative Study

Info zur Zeitschrift: Publisher: Elsevier Country of Publication: Netherlands NLM ID: 101247089 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1878-0849 (Electronic) Linking ISSN: 17697212 NLM ISO Abbreviation: Eur J Med Genet Subsets: MEDLINE

MeSH-Schlagworte: Rare Diseases*/genetics , Rare Diseases*/diagnosis , Rare Diseases*/economics , Whole Genome Sequencing*/economics , Whole Genome Sequencing*/methods , Genomics*/economics , Genomics*/methods , Genetic Testing*/economics , Genetic Testing*/methods, Humans ; United Kingdom ; Pilot Projects ; Child

Blended Phenotypes in Individuals With Rare Diseases: A Brazilian Case Series.

Autoren: Piai CB Salti GYG Allegro MC et al.

Quelle: American journal of medical genetics. Part A [Am J Med Genet A] 2025 Dec; Vol. 197 (12), pp. e64209. Date of Electronic Publication: 2025 Aug 05.

Publikationsart: Journal Article

Info zur Zeitschrift: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE

MeSH-Schlagworte: Rare Diseases*/genetics , Rare Diseases*/diagnosis , Rare Diseases*/epidemiology , Rare Diseases*/pathology , Phenotype*, Humans ; Brazil/epidemiology ; Male ; Female ; Genetic Testing ; Exome Sequencing ; Whole Genome Sequencing ; Child ; Child, Preschool ; Adult ; Infant ; Adolescent ; Genetic Association Studies

Diagnostic yield of whole exome sequencing in a cohort of 825 patients.

Autoren: Andersen PF Ek J Karstensen HG et al.

Quelle: European journal of medical genetics [Eur J Med Genet] 2025 Dec; Vol. 78, pp. 105043. Date of Electronic Publication: 2025 Sep 02.

Publikationsart: Case Reports; Journal Article

Info zur Zeitschrift: Publisher: Elsevier Country of Publication: Netherlands NLM ID: 101247089 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1878-0849 (Electronic) Linking ISSN: 17697212 NLM ISO Abbreviation: Eur J Med Genet Subsets: MEDLINE

MeSH-Schlagworte: Exome Sequencing*/methods , Exome Sequencing*/standards , Genetic Testing*/methods , Genetic Testing*/standards , Rare Diseases*/genetics , Rare Diseases*/diagnosis, Humans ; Child ; Child, Preschool ; Adolescent ; Adult ; Infant ; Male ; Middle Aged ; Aged ; Female ; Young Adult ; Aged, 80 and over ; Infant, Newborn ; Phenotype ; High-Throughput Nucleotide Sequencing