Search Results - "Prada CE"

RBMX functional retrocopy safeguards brain development in a species-dependent context.

Authors: Tilliole P Mattausch C Tilly P et al.

Source: Brain : a journal of neurology [Brain] 2026 Jun 26. Date of Electronic Publication: 2026 Jun 26.

Publication Type: Journal Article

Journal Info: Publisher: Oxford University Press Country of Publication: England NLM ID: 0372537 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1460-2156 (Electronic) Linking ISSN: 00068950 NLM ISO Abbreviation: Brain Subsets: MEDLINE

Rising Inpatient Demands for Inherited Metabolic Disorders: Impact on Pediatric Capacity.

Authors: Silva MP Havens K Arduini K et al.

Source: American journal of medical genetics. Part A [Am J Med Genet A] 2026 Jun; Vol. 200 (6), pp. 1423-1426. Date of Electronic Publication: 2026 Feb 10.

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; In Process

Central Precocious Puberty and Optic Pathway Glioma in Children with Neurofibromatosis 1: Associations with Tumor Location, Vision, and Treatment.

Authors: Katz J Hillis E Garzon JP et al.

Source: The Journal of pediatrics [J Pediatr] 2026 Jun; Vol. 293, pp. 115055. Date of Electronic Publication: 2026 Mar 02.

Publication Type: Journal Article; Multicenter Study

Journal Info: Publisher: Mosby Country of Publication: United States NLM ID: 0375410 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1097-6833 (Electronic) Linking ISSN: 00223476 NLM ISO Abbreviation: J Pediatr Subsets: MEDLINE

Real-world experience with sepiapterin in phenylketonuria: A single-center retrospective analysis.

Authors: Vucko ER Arduini K Becker K et al.

Source: Molecular genetics and metabolism [Mol Genet Metab] 2026 May 29; Vol. 148 (4), pp. 110153. Date of Electronic Publication: 2026 May 29.

Publication Type: Journal Article

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

Combined skeletal dysplasia and vasculopathy phenotypes associated with in-frame intragenic deletion in PRKACA.

Authors: Weaver KN Broeckel JW Brown K et al.

Source: HGG advances [HGG Adv] 2026 May 18; Vol. 7 (3), pp. 100626. Date of Electronic Publication: 2026 May 18.

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

Genetic activation of ERK2 recapitulates core neurodevelopmental features of Rasopathy syndromes in mice.

Authors: Grover KE Cappel ZR Volz AM et al.

Source: HGG advances [HGG Adv] 2026 Apr 28; Vol. 7 (3), pp. 100621. Date of Electronic Publication: 2026 Apr 28.

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

Syndrome of the Month: An Update on Smith-Kingsmore Syndrome: Characterization of Developmental Milestones and a Review of the Literature.

Authors: Raski CR Prada CE

Source: American journal of medical genetics. Part A [Am J Med Genet A] 2026 Apr; Vol. 200 (4), pp. 800-806. Date of Electronic Publication: 2025 Nov 11.

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

A Randomized, Double-Blind, Pilot Study of N-Acetylcysteine for Motor and Cognitive Symptoms in Youth With Neurofibromatosis Type 1.

Authors: Gilbert DL Aschbacher-Smith LE Migneault KY et al.

Source: Pediatric neurology [Pediatr Neurol] 2026 Jul; Vol. 180, pp. 129-137. Date of Electronic Publication: 2026 May 05.

Publication Type: Journal Article; Randomized Controlled Trial

Journal Info: Publisher: Elsevier Science Publishing Country of Publication: United States NLM ID: 8508183 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1873-5150 (Electronic) Linking ISSN: 08878994 NLM ISO Abbreviation: Pediatr Neurol Subsets: MEDLINE

Differences in Optic Pathway Glioma Prevalence Among Children with Neurofibromatosis Type 1.

Authors: Kokossis D Hillis E Garzon JP et al.

Source: The Journal of pediatrics [J Pediatr] 2026 Jul; Vol. 294, pp. 115068. Date of Electronic Publication: 2026 Mar 17.

Publication Type: Journal Article; Multicenter Study

Journal Info: Publisher: Mosby Country of Publication: United States NLM ID: 0375410 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1097-6833 (Electronic) Linking ISSN: 00223476 NLM ISO Abbreviation: J Pediatr Subsets: MEDLINE

A Collaborative Approach to Pediatric Genetic Evaluation in the Era of Genomic Medicine.

Authors: Langas SJ Weisman AG Allegretti V et al.

Source: American journal of medical genetics. Part A [Am J Med Genet A] 2026 Feb; Vol. 200 (2), pp. 371-378. Date of Electronic Publication: 2025 Oct 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

Current opinions on Noonan syndrome and RASopathies.

Authors: Weaver KN Prada CE

Source: Current opinion in pediatrics [Curr Opin Pediatr] 2026 Feb 01; Vol. 38 (1), pp. 126-132. Date of Electronic Publication: 2025 Nov 06.

Publication Type: Journal Article; Review

Journal Info: Publisher: Lippincott Williams and Wilkins Country of Publication: United States NLM ID: 9000850 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1531-698X (Electronic) Linking ISSN: 10408703 NLM ISO Abbreviation: Curr Opin Pediatr Subsets: MEDLINE

Sacroiliac Joint Involvement: An Underreported Complication of NF1.

Authors: Garzon JP Dombi E Samet J et al.

Source: American journal of medical genetics. Part A [Am J Med Genet A] 2026 Jan; Vol. 200 (1), pp. 223-228. Date of Electronic Publication: 2025 Aug 29.

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

Further Delineation of the Proximal 16p11.2 Microdeletion Syndrome: Novel Findings Among 22 New Individuals.

Authors: McRae AM Duncan J Drackley A et al.

Source: American journal of medical genetics. Part A [Am J Med Genet A] 2025 Jan; Vol. 197 (1), pp. e63873. Date of Electronic Publication: 2024 Sep 11.

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

Further Clinical and Biochemical Phenotype of GLA p.A143T: A Fabry Disease Newborn Screening Experience.

Authors: Paltzer A Paltzer AM Quadri AM et al.

Source: Nephron [Nephron] 2025; Vol. 149 (10), pp. 597-603. Date of Electronic Publication: 2025 Mar 28.

Publication Type: Journal Article; Review

Journal Info: Publisher: Karger Country of Publication: Switzerland NLM ID: 0331777 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2235-3186 (Electronic) Linking ISSN: 16608151 NLM ISO Abbreviation: Nephron Subsets: MEDLINE

Expanding the phenotype of neurofibromatosis type 1 microdeletion syndrome.

Authors: Garzon JP Patete A Aschbacher-Smith L et al.

Source: American journal of medical genetics. Part C, Seminars in medical genetics [Am J Med Genet C Semin Med Genet] 2024 Dec; Vol. 196 (4), pp. e32095. Date of Electronic Publication: 2024 Jul 18.

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

Journal Info: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235745 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4876 (Electronic) Linking ISSN: 15524868 NLM ISO Abbreviation: Am J Med Genet C Semin Med Genet Subsets: MEDLINE

Presentation of ichthyosis after substrate reduction therapy in Gaucher type 1.

Authors: Herbster J Prada CE Rasmussen CA et al.

Source: American journal of medical genetics. Part A [Am J Med Genet A] 2024 Dec; Vol. 194 (12), pp. e63835. Date of Electronic Publication: 2024 Aug 05.

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

Dandy-Walker malformation in an individual with ABL1 variant.

Authors: Garzon JP Pardo AC Raski CR et al.

Source: American journal of medical genetics. Part A [Am J Med Genet A] 2024 Oct; Vol. 194 (10), pp. e63718. Date of Electronic Publication: 2024 May 17.

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

Genetic activation of ERK2 recapitulates core neurodevelopmental features of Rasopathy syndromes in mice.

Authors: Grover KE Cappel ZR Volz A et al.

Source: BioRxiv : the preprint server for biology [bioRxiv] 2025 Dec 19. Date of Electronic Publication: 2025 Dec 19.

Publication Type: Journal Article; Preprint

Journal Info: Country of Publication: United States NLM ID: 101680187 Publication Model: Electronic Cited Medium: Internet ISSN: 2692-8205 (Electronic) Linking ISSN: 26928205 NLM ISO Abbreviation: bioRxiv Subsets: PubMed not MEDLINE

Possible Founder Effect of Glycine Encephalopathy: Evidence of a GLDC c.2714T>G (p.Val905Gly) Common Variant in the Paisa Community Based in Cali, Colombia.

Authors: Sinisterra-Diaz SE Prada CE Pachajoa H

Source: American journal of medical genetics. Part A [Am J Med Genet A] 2025 Dec; Vol. 197 (12), pp. e64173. Date of Electronic Publication: 2025 Jul 27.

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

Pathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic function.

Authors: Asadollahi R Ahmad A Boonsawat P et al.

Source: Nature genetics [Nat Genet] 2025 Nov; Vol. 57 (11), pp. 2691-2704. Date of Electronic Publication: 2025 Oct 22.

Publication Type: Journal Article

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