Search Results - "Champaigne NL"

Corrigendum to CERT1 mutations perturb human development by disrupting sphingolipid homeostasis.

Authors: Gehin C Lone MA Lee W et al.

Source: The Journal of clinical investigation [J Clin Invest] 2025 Nov 03; Vol. 135 (21). Date of Electronic Publication: 2025 Nov 03 (Print Publication: 2025).

Publication Type: Published Erratum

Journal Info: Publisher: American Society for Clinical Investigation Country of Publication: United States NLM ID: 7802877 Publication Model: eCollection Cited Medium: Internet ISSN: 1558-8238 (Electronic) Linking ISSN: 00219738 NLM ISO Abbreviation: J Clin Invest Subsets: MEDLINE; In Process

Variants in the WDR44 WD40-repeat domain cause a spectrum of ciliopathy by impairing ciliogenesis initiation.

Authors: Accogli A Shakya S Yang T et al.

Source: Nature communications [Nat Commun] 2024 Jan 08; Vol. 15 (1), pp. 365. Date of Electronic Publication: 2024 Jan 08.

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

Journal Info: Publisher: Nature Pub. Group Country of Publication: England NLM ID: 101528555 Publication Model: Electronic Cited Medium: Internet ISSN: 2041-1723 (Electronic) Linking ISSN: 20411723 NLM ISO Abbreviation: Nat Commun Subsets: MEDLINE

CERT1 mutations perturb human development by disrupting sphingolipid homeostasis.

Authors: Gehin C Lone MA Lee W et al.

Source: The Journal of clinical investigation [J Clin Invest] 2023 May 15; Vol. 133 (10). Date of Electronic Publication: 2023 May 15.

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

Journal Info: Publisher: American Society for Clinical Investigation Country of Publication: United States NLM ID: 7802877 Publication Model: Electronic Cited Medium: Internet ISSN: 1558-8238 (Electronic) Linking ISSN: 00219738 NLM ISO Abbreviation: J Clin Invest Subsets: MEDLINE

DNA methylation episignature for Witteveen-Kolk syndrome due to SIN3A haploinsufficiency.

Authors: Coenen-van der Spek J Relator R Kerkhof J et al.

Source: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2023 Jan; Vol. 25 (1), pp. 63-75. Date of Electronic Publication: 2022 Nov 18.

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

Journal Info: Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE

The epilepsy phenotypic spectrum associated with a recurrent CUX2 variant.

Authors: Chatron N Møller RS Champaigne NL et al.

Source: Annals of neurology [Ann Neurol] 2018 May; Vol. 83 (5), pp. 926-934. Date of Electronic Publication: 2018 Apr 30.

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

Journal Info: Publisher: Wiley-Liss Country of Publication: United States NLM ID: 7707449 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1531-8249 (Electronic) Linking ISSN: 03645134 NLM ISO Abbreviation: Ann Neurol

3-Methylglutaconic aciduria in carriers of primary carnitine deficiency.

Authors: Ziats CA Burns WB Tedder ML et al.

Source: European journal of medical genetics [Eur J Med Genet] 2021 Dec; Vol. 64 (12), pp. 104365. Date of Electronic Publication: 2021 Oct 09.

Publication Type: Journal Article

Journal Info: 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

Long-term observation of a patient with dominant omodysplasia.

Authors: Gordon BL Champaigne NL Rogers RC et al.

Source: American journal of medical genetics. Part A [Am J Med Genet A] 2014 May; Vol. 164A (5), pp. 1234-8. Date of Electronic Publication: 2014 Jan 23.

Publication Type: Case Reports; 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

Clinical utility of the X-chromosome array.

Authors: Zarate YA Dwivedi A Bartel FO et al.

Source: American journal of medical genetics. Part A [Am J Med Genet A] 2013 Jan; Vol. 161A (1), pp. 120-30. Date of Electronic Publication: 2012 Dec 03.

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

Exome sequencing identifies ACSF3 as a cause of combined malonic and methylmalonic aciduria.

Authors: Sloan JL Johnston JJ Manoli I et al.

Corporate Authors: Sloan JL Johnston JJ Manoli I et al.

Source: Nature genetics [Nat Genet] 2011 Aug 14; Vol. 43 (9), pp. 883-6. Date of Electronic Publication: 2011 Aug 14.

Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, N.I.H., Intramural

Journal Info: Publisher: Nature Pub. Co Country of Publication: United States NLM ID: 9216904 Publication Model: Electronic Cited Medium: Internet ISSN: 1546-1718 (Electronic) Linking ISSN: 10614036 NLM ISO Abbreviation: Nat Genet Subsets: MEDLINE

A recurrent de novo missense pathogenic variant in SMARCB1 causes severe intellectual disability and choroid plexus hyperplasia with resultant hydrocephalus.

Authors: Diets IJ Prescott T Champaigne NL et al.

Source: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2019 Mar; Vol. 21 (3), pp. 572-579. Date of Electronic Publication: 2018 Jun 15.

Publication Type: Case Reports; Journal Article

Journal Info: Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE

Two unrelated patients with autosomal dominant omodysplasia and FRIZZLED2 mutations.

Authors: Warren HE Louie RJ Friez MJ et al.

Source: Clinical case reports [Clin Case Rep] 2018 Oct 15; Vol. 6 (11), pp. 2252-2255. Date of Electronic Publication: 2018 Oct 15 (Print Publication: 2018).

Publication Type: Case Reports; Journal Article

Journal Info: Publisher: John Wiley & Sons Country of Publication: England NLM ID: 101620385 Publication Model: eCollection Cited Medium: Print ISSN: 2050-0904 (Print) Linking ISSN: 20500904 NLM ISO Abbreviation: Clin Case Rep Subsets: PubMed not MEDLINE

New observation of sialuria prompts detection of liver tumor in previously reported patient.

Authors: Champaigne NL Leroy JG Kishnani PS et al.

Source: Molecular genetics and metabolism [Mol Genet Metab] 2016 Jun; Vol. 118 (2), pp. 92-9. Date of Electronic Publication: 2016 Apr 16.

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

Journal Info: Publisher: Academic Press Country of Publication: United States NLM ID: 9805456 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1096-7206 (Electronic) Linking ISSN: 10967192 NLM ISO Abbreviation: Mol Genet Metab Subsets: MEDLINE

Primary Carnitine Deficiency Presents Atypically with Long QT Syndrome: A Case Report.

Authors: De Biase I Champaigne NL Schroer R et al.

Source: JIMD reports [JIMD Rep] 2012; Vol. 2, pp. 87-90. Date of Electronic Publication: 2011 Sep 06.

Publication Type: Journal Article

Journal Info: Publisher: Wiley Country of Publication: United States NLM ID: 101568557 Publication Model: Print-Electronic Cited Medium: Print ISSN: 2192-8304 (Print) Linking ISSN: 21928304 NLM ISO Abbreviation: JIMD Rep Subsets: PubMed not MEDLINE

Expanded newborn screening in Texas: a survey and educational module addressing the knowledge of pediatric residents.

Authors: Wells AS Northrup H Crandell SS et al.

Source: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2009 Mar; Vol. 11 (3), pp. 163-8.

Publication Type: Journal Article

Journal Info: Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE

Molecular cytogenetic characterization of an interstitial de novo 13q deletion in a 3-month-old with severe pediatric gastroesophageal reflux.

Authors: Champaigne NL Laird NA Northup JK et al.

Source: American journal of medical genetics. Part A [Am J Med Genet A] 2009 Feb 15; Vol. 149A (4), pp. 751-4.

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 Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE