Search Results - "Soler-Alfonso C"

Dominant negative ATP5F1A variants disrupt oxidative phosphorylation causing neurological disorders.

Authors: Fielder SM Friederich MW Hock DH et al.

Corporate Authors: Fielder SM Friederich MW Hock DH et al.

Source: EMBO molecular medicine [EMBO Mol Med] 2025 Oct; Vol. 17 (10), pp. 2562-2585. Date of Electronic Publication: 2025 Aug 26.

Publication Type: Journal Article

Journal Info: Publisher: EMBO Press Country of Publication: Germany NLM ID: 101487380 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1757-4684 (Electronic) Linking ISSN: 17574676 NLM ISO Abbreviation: EMBO Mol Med Subsets: MEDLINE

A Case of Multiple Mitochondrial Dysfunctions Syndrome 1 and Review of the Literature.

Authors: DiFalco CR Williams A Soler-Alfonso C et al.

Source: American journal of medical genetics. Part A [Am J Med Genet A] 2026 May 26. Date of Electronic Publication: 2026 May 26.

Publication Type: Journal Article; Review

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

Developmental and Phenotypic Outcomes in Mild Phenylalanine Hydroxylase Deficiency.

Authors: Williams A Divin K Burrage LC et al.

Source: American journal of medical genetics. Part A [Am J Med Genet A] 2026 Apr 05. Date of Electronic Publication: 2026 Apr 05.

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

Case Series of Nizon-Isidor Syndrome by Heterozygous Variants in MED12L With Further Evidence of Mitotic Instability in One Case With Diploid-Triploid Mosaicism.

Authors: Stewart R Ezell KM Bell DS et al.

Corporate Authors: Stewart R Ezell KM Bell DS et al.

Source: American journal of medical genetics. Part A [Am J Med Genet A] 2026 Jan; Vol. 200 (1), pp. 205-214. Date of Electronic Publication: 2025 Aug 21.

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

Genetics services in Latin America: a descriptive study of availability and utilization of genetics in healthcare.

Authors: German RJ Atkinson E Storch EA et al.

Source: Journal of community genetics [J Community Genet] 2025 Dec; Vol. 16 (6), pp. 721-730. Date of Electronic Publication: 2025 Sep 29.

Publication Type: Journal Article

Journal Info: Publisher: Springer Country of Publication: Germany NLM ID: 101551501 Publication Model: Print-Electronic Cited Medium: Print ISSN: 1868-310X (Print) Linking ISSN: 1868310X NLM ISO Abbreviation: J Community Genet Subsets: PubMed not MEDLINE

Biochemical and clinical response to a sulfur-restricted diet in ethylmalonic encephalopathy.

Authors: Lang SH Salgado AC Snyder MT et al.

Source: Molecular genetics and metabolism reports [Mol Genet Metab Rep] 2025 Oct 27; Vol. 45, pp. 101270. Date of Electronic Publication: 2025 Oct 27 (Print Publication: 2025).

Publication Type: Journal Article

Journal Info: Publisher: Elsevier Inc Country of Publication: United States NLM ID: 101624422 Publication Model: eCollection Cited Medium: Print ISSN: 2214-4269 (Print) Linking ISSN: 22144269 NLM ISO Abbreviation: Mol Genet Metab Rep Subsets: PubMed not MEDLINE

Evaluating Parental Perception and Confidence Managing Obesity-Related Behaviors Among Children with Severe Early-Onset Obesity in a Tertiary Care Clinic.

Authors: Morales JM Gonzalez M Elatrash C et al.

Source: Childhood obesity (Print) [Child Obes] 2025 Oct; Vol. 21 (7), pp. 589-599. Date of Electronic Publication: 2025 May 07.

Publication Type: Journal Article

Journal Info: Publisher: Mary Ann Liebert Country of Publication: United States NLM ID: 101542497 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2153-2176 (Electronic) Linking ISSN: 21532168 NLM ISO Abbreviation: Child Obes Subsets: MEDLINE

Multiple molecular diagnoses identified through genome sequencing in individuals with suspected rare disease.

Authors: Malhotra A Thorpe E Coffey AJ et al.

Corporate Authors: Malhotra A Thorpe E Coffey AJ et al.

Source: HGG advances [HGG Adv] 2025 Jul 10; Vol. 6 (3), pp. 100430. Date of Electronic Publication: 2025 Apr 07.

Publication Type: Journal Article

Journal Info: 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

Dominant negative ATP5F1A variants disrupt oxidative phosphorylation causing neurological disorders.

Authors: Fielder SM Friederich MW Hock DH et al.

Corporate Authors: Fielder SM Friederich MW Hock DH et al.

Source: MedRxiv : the preprint server for health sciences [medRxiv] 2025 Jul 08. Date of Electronic Publication: 2025 Jul 08.

Publication Type: Journal Article; Preprint

Journal Info: Country of Publication: United States NLM ID: 101767986 Publication Model: Electronic Cited Medium: Internet NLM ISO Abbreviation: medRxiv Subsets: PubMed not MEDLINE

Genetic Testing to Inform Epilepsy Treatment Management From an International Study of Clinical Practice.

Authors: McKnight D Morales A Hatchell KE et al.

Corporate Authors: McKnight D Morales A Hatchell KE et al.

Source: JAMA neurology [JAMA Neurol] 2022 Dec 01; Vol. 79 (12), pp. 1267-1276.

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

Journal Info: Publisher: American Medical Association Country of Publication: United States NLM ID: 101589536 Publication Model: Print Cited Medium: Internet ISSN: 2168-6157 (Electronic) Linking ISSN: 21686149 NLM ISO Abbreviation: JAMA Neurol Subsets: MEDLINE

Untargeted metabolomic profiling in a patient with glycogen storage disease Ib receiving empagliflozin treatment.

Authors: Tallis E Karsenty CL Grimes AB et al.

Source: JIMD reports [JIMD Rep] 2022 May 22; Vol. 63 (4), pp. 309-315. Date of Electronic Publication: 2022 May 22 (Print Publication: 2022).

Publication Type: Case Reports; Journal Article

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

Project GIVE: using a virtual genetics service platform to reduce health inequities and improve access to genomic care in an underserved region of Texas.

Authors: Vuocolo B Sierra R Brooks D et al.

Source: Journal of neurodevelopmental disorders [J Neurodev Disord] 2024 Sep 09; Vol. 16 (1), pp. 52. Date of Electronic Publication: 2024 Sep 09.

Publication Type: Journal Article

Journal Info: Publisher: BioMed Central Country of Publication: England NLM ID: 101483832 Publication Model: Electronic Cited Medium: Internet ISSN: 1866-1955 (Electronic) Linking ISSN: 18661947 NLM ISO Abbreviation: J Neurodev Disord Subsets: MEDLINE

Exome sequencing in children with clinically suspected maturity-onset diabetes of the young.

Authors: Tosur M Soler-Alfonso C Chan KM et al.

Source: Pediatric diabetes [Pediatr Diabetes] 2021 Nov; Vol. 22 (7), pp. 960-968. Date of Electronic Publication: 2021 Aug 19.

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

Journal Info: Publisher: Wiley Country of Publication: United States NLM ID: 100939345 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1399-5448 (Electronic) Linking ISSN: 1399543X NLM ISO Abbreviation: Pediatr Diabetes Subsets: MEDLINE

Acute Strokelike Presentation and Long-term Evolution of Diffusion Restriction Pattern in Ethylmalonic Encephalopathy.

Authors: Lim J Shayota BJ Lay E et al.

Source: Journal of child neurology [J Child Neurol] 2021 Sep; Vol. 36 (10), pp. 841-852. Date of Electronic Publication: 2021 Apr 26.

Publication Type: Journal Article

Journal Info: Publisher: Sage Country of Publication: United States NLM ID: 8606714 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1708-8283 (Electronic) Linking ISSN: 08830738 NLM ISO Abbreviation: J Child Neurol Subsets: MEDLINE

PPP3CA truncating variants clustered in the regulatory domain cause early-onset refractory epilepsy.

Authors: Panneerselvam S Wang J Zhu W et al.

Corporate Authors: Panneerselvam S Wang J Zhu W et al.

Source: Clinical genetics [Clin Genet] 2021 Aug; Vol. 100 (2), pp. 227-233. Date of Electronic Publication: 2021 Jun 01.

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

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

Natural history study of hepatic glycogen storage disease type IV and comparison to Gbe1ys/ys model.

Authors: Koch RL Kiely BT Choi SJ et al.

Source: JCI insight [JCI Insight] 2024 May 14; Vol. 9 (12). Date of Electronic Publication: 2024 May 14.

Publication Type: Journal Article; Comparative Study

Journal Info: Publisher: American Society for Clinical Investigation Country of Publication: United States NLM ID: 101676073 Publication Model: Electronic Cited Medium: Internet ISSN: 2379-3708 (Electronic) Linking ISSN: 23793708 NLM ISO Abbreviation: JCI Insight Subsets: MEDLINE

Short stature and growth hormone deficiency in a subset of patients with Potocki-Lupski syndrome: Expanding the phenotype of PTLS.

Authors: Franciskovich R Soler-Alfonso C Neira-Fresneda J et al.

Source: American journal of medical genetics. Part A [Am J Med Genet A] 2020 Sep; Vol. 182 (9), pp. 2077-2084. Date of Electronic Publication: 2020 Jul 13.

Publication Type: Journal Article; 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

Reducing Time to Diagnosis of Rare Genetic Diseases in a Medically Underserved Hispanic Population- Lessons Learned for Meaningful Engagement.

Authors: Vuocolo B Sierra R Brooks D et al.

Source: Research square [Res Sq] 2023 Dec 13. Date of Electronic Publication: 2023 Dec 13.

Publication Type: Preprint; Journal Article

Journal Info: Country of Publication: United States NLM ID: 101768035 Publication Model: Electronic Cited Medium: Internet ISSN: 2693-5015 (Electronic) Linking ISSN: 26935015 NLM ISO Abbreviation: Res Sq Subsets: PubMed not MEDLINE

Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants.

Authors: Vogel GF Mozer-Glassberg Y Landau YE et al.

Source: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2023 Jun; Vol. 25 (6), pp. 100314. Date of Electronic Publication: 2022 Oct 29.

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

Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants.

Authors: Vogel GF Mozer-Glassberg Y Landau YE et al.

Source: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2023 Jun; Vol. 25 (6), pp. 100828. Date of Electronic Publication: 2023 Apr 13.

Publication Type: Published Erratum

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; PubMed not MEDLINE