Search Results - "Rustad CF"

Tyrosine kinase inhibitors in Kosaki/Penttinen syndromes: new reports, follow-up of treated individuals and literature review.

Authors: Jost C Mussa A Kurtz JE et al.

Source: European journal of human genetics : EJHG [Eur J Hum Genet] 2026 Jul 08. Date of Electronic Publication: 2026 Jul 08.

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

Health-Related Quality of Life, Everyday Executive Functioning, and Eating Behavior in Adults With Bardet-Biedl Syndrome.

Authors: Rustad CF von der Lippe C Nordgarden H et al.

Source: American journal of medical genetics. Part A [Am J Med Genet A] 2026 May 19. Date of Electronic Publication: 2026 May 19.

Publication Type: Journal Article

Journal Info: 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

Recurrent platelet-derived growth factor receptor beta gene mutations in Kosaki overgrowth syndrome: a molecular and clinical overview.

Authors: Gladkauskas T Cristea I Mehrasa R et al.

Source: Clinical dysmorphology [Clin Dysmorphol] 2026 Apr 01; Vol. 35 (2), pp. 47-55. Date of Electronic Publication: 2025 Dec 12.

Publication Type: Journal Article; Review

Journal Info: Publisher: Lippincott Williams & Wilkins Country of Publication: England NLM ID: 9207893 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1473-5717 (Electronic) Linking ISSN: 09628827 NLM ISO Abbreviation: Clin Dysmorphol Subsets: MEDLINE

Clinical and genetic aspects of Bardet-Biedl syndrome in adults in Norway.

Authors: Rustad CF Bragadottir R Tveten K et al.

Source: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2025 Mar 14; Vol. 20 (1), pp. 127. Date of Electronic Publication: 2025 Mar 14.

Publication Type: Journal Article

Journal Info: Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172 (Electronic) Linking ISSN: 17501172 NLM ISO Abbreviation: Orphanet J Rare Dis Subsets: MEDLINE

Clinical and genetic findings in 103 individuals in Norway with basal cell naevus syndrome.

Authors: Brandtzæg KH von der Lippe C Vestengen IK et al.

Source: The British journal of dermatology [Br J Dermatol] 2026 Jan 27; Vol. 194 (2), pp. 264-272.

Publication Type: Journal Article

Journal Info: Publisher: Oxford University Press Country of Publication: England NLM ID: 0004041 Publication Model: Print Cited Medium: Internet ISSN: 1365-2133 (Electronic) Linking ISSN: 00070963 NLM ISO Abbreviation: Br J Dermatol Subsets: MEDLINE

'Knowing and Treating Kosaki/Penttinen syndrome' international collaborative consortium: recommendations for follow-up, natural history and a real-life observational study about safety and efficacy profile of tyrosine kinase inhibitors.

Authors: Bouhatous YM Bredrup C Maurer A et al.

Source: Journal of medical genetics [J Med Genet] 2025 Sep 19; Vol. 62 (10), pp. 656-663. Date of Electronic Publication: 2025 Sep 19.

Publication Type: Journal Article; Multicenter Study; Observational Study

Journal Info: Publisher: British Medical Association Country of Publication: England NLM ID: 2985087R Publication Model: Electronic Cited Medium: Internet ISSN: 1468-6244 (Electronic) Linking ISSN: 00222593 NLM ISO Abbreviation: J Med Genet Subsets: MEDLINE

Clinical, genetic and structural delineation of RPL13-related spondyloepimetaphyseal dysplasia suggest extra-ribosomal functions of eL13.

Authors: Jacob P Lindelöf H Rustad CF et al.

Source: NPJ genomic medicine [NPJ Genom Med] 2023 Nov 22; Vol. 8 (1), pp. 39. Date of Electronic Publication: 2023 Nov 22.

Publication Type: Journal Article

Journal Info: Publisher: Springer Nature in partnership with the Center of Excellence in Genomic Medicine Research at King Abdulaziz University Country of Publication: England NLM ID: 101685193 Publication Model: Electronic Cited Medium: Internet ISSN: 2056-7944 (Electronic) Linking ISSN: 20567944 NLM ISO Abbreviation: NPJ Genom Med Subsets: PubMed not MEDLINE

Healthcare needs, care use and health status outcomes in adults with Bardet-Biedl syndrome: a cross-sectional study in Norway.

Authors: Rustad CF Bragadottir R Nordgarden H et al.

Source: BMJ open [BMJ Open] 2025 Apr 22; Vol. 15 (4), pp. e095986. Date of Electronic Publication: 2025 Apr 22.

Publication Type: Journal Article; Observational Study

Journal Info: Publisher: BMJ Publishing Group Ltd Country of Publication: England NLM ID: 101552874 Publication Model: Electronic Cited Medium: Internet ISSN: 2044-6055 (Electronic) Linking ISSN: 20446055 NLM ISO Abbreviation: BMJ Open Subsets: MEDLINE

Phenotypic expansion of ARSK-related mucopolysaccharidosis.

Authors: Rustad CF Prescott TE Merckoll E et al.

Source: American journal of medical genetics. Part A [Am J Med Genet A] 2022 Nov; Vol. 188 (11), pp. 3369-3373. Date of Electronic Publication: 2022 Aug 12.

Publication Type: Letter

Journal Info: 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

Identifying phenotypic expansions for congenital diaphragmatic hernia plus (CDH+) using DECIPHER data.

Authors: Hardcastle A Berry AM Campbell IM et al.

Source: American journal of medical genetics. Part A [Am J Med Genet A] 2022 Oct; Vol. 188 (10), pp. 2958-2968. Date of Electronic Publication: 2022 Jul 29.

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

Journal Info: 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

Correction: A woman in her fifties with chronic muscle weakness.

Transliterated Title: Rettelse: En kvinne i 50-årene med langvarig muskelsvakhet.

Authors: Rustad CF Tveten K Braathen GJ et al.

Source: Tidsskrift for den Norske laegeforening : tidsskrift for praktisk medicin, ny raekke [Tidsskr Nor Laegeforen] 2022 Jan 18; Vol. 142 (2). Date of Electronic Publication: 2022 Jan 18 (Print Publication: 2022).

Publication Type: Journal Article; Published Erratum

Journal Info: Publisher: Norske Laegeforening Country of Publication: Norway NLM ID: 0413423 Publication Model: Electronic-Print Cited Medium: Internet ISSN: 0807-7096 (Electronic) Linking ISSN: 00292001 NLM ISO Abbreviation: Tidsskr Nor Laegeforen Subsets: MEDLINE; PubMed not MEDLINE

A woman in her fifties with chronic muscle weakness.

Transliterated Title: En kvinne i 50-årene med langvarig muskelsvakhet.

Authors: Rustad CF Tveten K Braathen GJ et al.

Source: Tidsskrift for den Norske laegeforening : tidsskrift for praktisk medicin, ny raekke [Tidsskr Nor Laegeforen] 2022 Jan 07; Vol. 142 (1). Date of Electronic Publication: 2022 Jan 07 (Print Publication: 2022).

Publication Type: Case Reports; Journal Article

Journal Info: Publisher: Norske Laegeforening Country of Publication: Norway NLM ID: 0413423 Publication Model: Electronic-Print Cited Medium: Internet ISSN: 0807-7096 (Electronic) Linking ISSN: 00292001 NLM ISO Abbreviation: Tidsskr Nor Laegeforen Subsets: MEDLINE

Double paternal uniparental isodisomy 7 and 15 presenting with Beckwith-Wiedemann spectrum features.

Authors: Berland S Rustad CF Bentsen MHL et al.

Source: Cold Spring Harbor molecular case studies [Cold Spring Harb Mol Case Stud] 2021 Dec 09; Vol. 7 (6). Date of Electronic Publication: 2021 Dec 09 (Print Publication: 2021).

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

Journal Info: Publisher: Cold Spring Harbor Laboratory Press Country of Publication: United States NLM ID: 101660017 Publication Model: Electronic-Print Cited Medium: Internet ISSN: 2373-2873 (Electronic) Linking ISSN: 23732873 NLM ISO Abbreviation: Cold Spring Harb Mol Case Stud Subsets: MEDLINE

Positive response to imatinib in PDGFRB-related Kosaki overgrowth syndrome.

Authors: Rustad CF Tveten K Prescott TE et al.

Source: American journal of medical genetics. Part A [Am J Med Genet A] 2021 Aug; Vol. 185 (8), pp. 2597-2601. Date of Electronic Publication: 2021 May 12.

Publication Type: Case Reports; Letter

Journal Info: 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

A monoallelic UXS1 variant associated with short-limbed short stature.

Authors: Rustad CF Backe PH Jin C et al.

Source: Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2024 Jun; Vol. 12 (6), pp. e2472.

Publication Type: Journal Article; Case Reports

Journal Info: Publisher: John Wiley & Sons Country of Publication: United States NLM ID: 101603758 Publication Model: Print Cited Medium: Internet ISSN: 2324-9269 (Electronic) Linking ISSN: 23249269 NLM ISO Abbreviation: Mol Genet Genomic Med Subsets: MEDLINE

Correction to: High prevalence of symptomatic spinal stenosis in Norwegian adults with achondroplasia: a population-based study.

Authors: Fredwall SO Steen U de Vries O et al.

Source: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2020 Dec 07; Vol. 15 (1), pp. 342. Date of Electronic Publication: 2020 Dec 07.

Publication Type: Published Erratum

Journal Info: Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172 (Electronic) Linking ISSN: 17501172 NLM ISO Abbreviation: Orphanet J Rare Dis Subsets: MEDLINE; PubMed not MEDLINE

High prevalence of symptomatic spinal stenosis in Norwegian adults with achondroplasia: a population-based study.

Authors: Fredwall SO Steen U de Vries O et al.

Source: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2020 May 25; Vol. 15 (1), pp. 123. Date of Electronic Publication: 2020 May 25.

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

Journal Info: Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172 (Electronic) Linking ISSN: 17501172 NLM ISO Abbreviation: Orphanet J Rare Dis Subsets: MEDLINE

PAPSS2-related brachyolmia: Clinical and radiological phenotype in 18 new cases.

Authors: Bownass L Abbs S Armstrong R et al.

Corporate Authors: Bownass L Abbs S Armstrong R et al.

Source: American journal of medical genetics. Part A [Am J Med Genet A] 2019 Sep; Vol. 179 (9), pp. 1884-1894. Date of Electronic Publication: 2019 Jul 16.

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

Journal Info: 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

Clinical, neuroradiological, and biochemical features of SLC35A2-CDG patients.

Authors: Vals MA Ashikov A Ilves P et al.

Corporate Authors: Vals MA Ashikov A Ilves P et al.

Source: Journal of inherited metabolic disease [J Inherit Metab Dis] 2019 May; Vol. 42 (3), pp. 553-564. Date of Electronic Publication: 2019 Feb 11.

Publication Type: Journal Article; Multicenter Study; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Wiley Country of Publication: United States NLM ID: 7910918 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-2665 (Electronic) Linking ISSN: 01418955 NLM ISO Abbreviation: J Inherit Metab Dis Subsets: MEDLINE

Neurofibromatosis type 2: Multiple intra-dermal tumors in a toddler.

Authors: Rustad CF Dahl HM Bowers NL et al.

Source: American journal of medical genetics. Part A [Am J Med Genet A] 2017 May; Vol. 173 (5), pp. 1447-1449. Date of Electronic Publication: 2017 Apr 03.

Publication Type: Case Reports; Letter

Journal Info: 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