Search Results - "Stolerman ES"

A clinical and genotype-phenotype analysis of MACF1 variants.

Authors: Dekker J Schot R Aldinger KA et al.

Source: American journal of human genetics [Am J Hum Genet] 2025 Oct 02; Vol. 112 (10), pp. 2363-2380. Date of Electronic Publication: 2025 Sep 08.

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

Journal Info: Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE

Clinical case report: mosaic ANK3 pathogenic variant in a patient with autism spectrum disorder and neurodevelopmental delay.

Authors: Fang X Fee T Davis J et al.

Source: Cold Spring Harbor molecular case studies [Cold Spring Harb Mol Case Stud] 2023 Jul 11; Vol. 9 (3). Date of Electronic Publication: 2023 Jul 11 (Print Publication: 2023).

Publication Type: Case Reports; 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

Tenorio syndrome: Description of 14 novel cases and review of the clinical and molecular features.

Authors: Tenorio-Castaño JA Arias P Fernández-Jaén A et al.

Source: Clinical genetics [Clin Genet] 2021 Oct; Vol. 100 (4), pp. 405-411. Date of Electronic Publication: 2021 Jul 16.

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

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

Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder.

Authors: Kour S Rajan DS Fortuna TR et al.

Source: Nature communications [Nat Commun] 2021 May 07; Vol. 12 (1), pp. 2558. Date of Electronic Publication: 2021 May 07.

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

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

Genetic variants in the KDM6B gene are associated with neurodevelopmental delays and dysmorphic features.

Authors: Stolerman ES Francisco E Stallworth JL et al.

Source: American journal of medical genetics. Part A [Am J Med Genet A] 2019 Jul; Vol. 179 (7), pp. 1276-1286. Date of Electronic Publication: 2019 May 23.

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

RNA analysis of intronic variants in the LAMA2 gene detected by whole genome sequencing confirms a rare dual diagnosis of incontinentia pigmenti with limb-girdle muscular dystrophy.

Authors: Washington C Stolerman ES Cooley-Coleman JA et al.

Source: Clinical case reports [Clin Case Rep] 2023 Apr 07; Vol. 11 (4), pp. e7165. Date of Electronic Publication: 2023 Apr 07 (Print Publication: 2023).

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

De novo missense variants in the E3 ubiquitin ligase adaptor KLHL20 cause a developmental disorder with intellectual disability, epilepsy, and autism spectrum disorder.

Authors: Sleyp Y Valenzuela I Accogli A et al.

Corporate Authors: Sleyp Y Valenzuela I Accogli A et al.

Source: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2022 Dec; Vol. 24 (12), pp. 2464-2474. Date of Electronic Publication: 2022 Oct 11.

Publication Type: Journal Article; Research Support, N.I.H., Extramural; 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 study to understand the genetics of the acute response to metformin and glipizide in humans (SUGAR-MGH): design of a pharmacogenetic resource for type 2 diabetes.

Authors: Walford GA Colomo N Todd JN et al.

Source: PloS one [PLoS One] 2015 Mar 26; Vol. 10 (3), pp. e0121553. Date of Electronic Publication: 2015 Mar 26 (Print Publication: 2015).

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

Journal Info: Publisher: Public Library of Science Country of Publication: United States NLM ID: 101285081 Publication Model: eCollection Cited Medium: Internet ISSN: 1932-6203 (Electronic) Linking ISSN: 19326203 NLM ISO Abbreviation: PLoS One Subsets: MEDLINE

TCF7L2 variants are associated with increased proinsulin/insulin ratios but not obesity traits in the Framingham Heart Study.

Authors: Stolerman ES Manning AK McAteer JB et al.

Source: Diabetologia [Diabetologia] 2009 Apr; Vol. 52 (4), pp. 614-20. Date of Electronic Publication: 2009 Jan 31.

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

Journal Info: Publisher: Springer Verlag Country of Publication: Germany NLM ID: 0006777 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-0428 (Electronic) Linking ISSN: 0012186X NLM ISO Abbreviation: Diabetologia Subsets: MEDLINE

Haplotype structure of the ENPP1 Gene and Nominal Association of the K121Q missense single nucleotide polymorphism with glycemic traits in the Framingham Heart Study.

Authors: Stolerman ES Manning AK McAteer JB et al.

Source: Diabetes [Diabetes] 2008 Jul; Vol. 57 (7), pp. 1971-7. Date of Electronic Publication: 2008 Apr 21.

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

Journal Info: Publisher: American Diabetes Association Country of Publication: United States NLM ID: 0372763 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1939-327X (Electronic) Linking ISSN: 00121797 NLM ISO Abbreviation: Diabetes Subsets: MEDLINE

CHD8 intragenic deletion associated with autism spectrum disorder.

Authors: Stolerman ES Smith B Chaubey A et al.

Source: European journal of medical genetics [Eur J Med Genet] 2016 Apr; Vol. 59 (4), pp. 189-94. Date of Electronic Publication: 2016 Feb 26.

Publication Type: Case Reports; 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

Genomics of type 2 diabetes mellitus: implications for the clinician.

Authors: Stolerman ES Florez JC

Source: Nature reviews. Endocrinology [Nat Rev Endocrinol] 2009 Aug; Vol. 5 (8), pp. 429-36. Date of Electronic Publication: 2009 Jun 30.

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

Journal Info: Publisher: Nature Pub. Group Country of Publication: England NLM ID: 101500078 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1759-5037 (Electronic) Linking ISSN: 17595029 NLM ISO Abbreviation: Nat Rev Endocrinol Subsets: MEDLINE

Increased degradation and altered tissue distribution of cartilage oligomeric matrix protein in human rheumatoid and osteoarthritic cartilage.

Authors: Di Cesare PE Carlson CS Stolerman ES et al.

Source: Journal of orthopaedic research : official publication of the Orthopaedic Research Society [J Orthop Res] 1996 Nov; Vol. 14 (6), pp. 946-55.

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

Journal Info: Publisher: Wiley Country of Publication: United States NLM ID: 8404726 Publication Model: Print Cited Medium: Print ISSN: 0736-0266 (Print) Linking ISSN: 07360266 NLM ISO Abbreviation: J Orthop Res Subsets: MEDLINE

Biologic markers of arthritis.

Authors: Scher DM Stolerman ES Di Cesare PE

Source: American journal of orthopedics (Belle Mead, N.J.) [Am J Orthop (Belle Mead NJ)] 1996 Apr; Vol. 25 (4), pp. 263-72.

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

Journal Info: Publisher: Frontline Medical Communications Country of Publication: United States NLM ID: 9502918 Publication Model: Print Cited Medium: Print ISSN: 1078-4519 (Print) Linking ISSN: 10784519 NLM ISO Abbreviation: Am J Orthop (Belle Mead NJ) Subsets: MEDLINE