Search Results - "Bird LM"

Delineating the clinical and molecular spectrum of the neurodevelopmental disorder associated with SET.

Authors: Shi Y Silva A Debuy C et al.

Source: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2026 Jun 19, pp. 102637. Date of Electronic Publication: 2026 Jun 19.

Publication Type: 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

Multimodal Genotype-Phenotype Analysis in SMARCB1-Associated Developmental Disorders.

Authors: Saad R Gigli CC van der Sluijs PJ et al.

Source: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2026 May 27, pp. 102614. Date of Electronic Publication: 2026 May 27.

Publication Type: 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

Diazoxide Choline Extended-release Tablets in Prader-Willi Syndrome: A Randomized, Double-blind, Withdrawal Period Study.

Authors: Miller JL Bridges N Felner EI et al.

Source: The Journal of clinical endocrinology and metabolism [J Clin Endocrinol Metab] 2026 May 19; Vol. 111 (6), pp. e1554-e1561.

Publication Type: Journal Article; Randomized Controlled Trial

Journal Info: Publisher: Oxford University Press Country of Publication: United States NLM ID: 0375362 Publication Model: Print Cited Medium: Internet ISSN: 1945-7197 (Electronic) Linking ISSN: 0021972X NLM ISO Abbreviation: J Clin Endocrinol Metab Subsets: MEDLINE

KDM2B-Related Neurodevelopmental Disorder A Case-Series Supporting the CxxC Domain Phenotype With Emphasis on Ocular and Dermatologic Features.

Authors: Gomes A Martín-Rodríguez Á Del Campo M et al.

Source: American journal of medical genetics. Part A [Am J Med Genet A] 2026 May; Vol. 200 (5), pp. 1098-1104. Date of Electronic Publication: 2025 Dec 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

Expanding the Phenotype of Syndromic SLC30A9 -Associated Disease.

Authors: Wagner NE AlAshwal SM Lenberg J et al.

Source: American journal of medical genetics. Part A [Am J Med Genet A] 2026 Apr; Vol. 200 (4), pp. 918-922. Date of Electronic Publication: 2025 Nov 26.

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

Community-Sourced Reporting of Mortalities in Angelman Syndrome (1979-2022).

Authors: Gomes AT Moore A Cross M et al.

Source: American journal of medical genetics. Part A [Am J Med Genet A] 2025 Apr; Vol. 197 (4), pp. e63961. Date of Electronic Publication: 2024 Dec 16.

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

Development of at-home video recordings for functional skill assessment in Angelman Syndrome: a pilot study.

Authors: Leffler M Woods RJ Sapp A et al.

Source: Journal of neurodevelopmental disorders [J Neurodev Disord] 2026 Feb 19; Vol. 18 (1). Date of Electronic Publication: 2026 Feb 19.

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

MAX-Related Disorder: Expanding the Phenotype of the Recurrent p.Arg60Gln Variant.

Authors: Gomes A Martín-Rodríguez Á Shah NM et al.

Source: American journal of medical genetics. Part A [Am J Med Genet A] 2026 Jan; Vol. 200 (1), pp. 178-184. Date of Electronic Publication: 2025 Aug 13.

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

Adaptive Skills of Individuals with Angelman Syndrome Assessed Using the Vineland Adaptive Behavior Scales, 2nd Edition.

Authors: Gwaltney A Potter SN Peters SU et al.

Source: Journal of autism and developmental disorders [J Autism Dev Disord] 2024 Oct; Vol. 54 (10), pp. 3863-3887. Date of Electronic Publication: 2023 Aug 15.

Publication Type: Journal Article

Journal Info: Publisher: Springer Country of Publication: United States NLM ID: 7904301 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-3432 (Electronic) Linking ISSN: 01623257 NLM ISO Abbreviation: J Autism Dev Disord Subsets: MEDLINE

Intestinal Atresia in PPP1R12A -Related Urogenital and Brain Malformation Syndrome.

Authors: Gomes A Karamcheti S Rodriguez ÁM et al.

Source: American journal of medical genetics. Part A [Am J Med Genet A] 2025 Dec; Vol. 197 (12), pp. e64217. Date of Electronic Publication: 2025 Aug 06.

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

Artificial Intelligence Software Changes Rare Disease Testing Strategy in Real Time: An International Case Series Using Face2Gene.

Authors: Rudy NL Gomes A Tkemaladze T et al.

Source: American journal of medical genetics. Part A [Am J Med Genet A] 2025 Nov; Vol. 197 (11), pp. e64171. Date of Electronic Publication: 2025 Jul 04.

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

Features of Vulvodynia Associated With Ehlers-Danlos Syndrome.

Authors: Bird LM Olaker VR Pope RJ

Source: Journal of lower genital tract disease [J Low Genit Tract Dis] 2025 Oct 01; Vol. 29 (4), pp. 376-379. Date of Electronic Publication: 2025 Jul 08.

Publication Type: Journal Article

Journal Info: Publisher: Lippincott Williams & Wilkins Country of Publication: United States NLM ID: 9704963 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1526-0976 (Electronic) Linking ISSN: 10892591 NLM ISO Abbreviation: J Low Genit Tract Dis Subsets: MEDLINE

Expansion of the core features of VACTERL association to include genital anomalies.

Authors: Forero LT Henderson R Galarreta C et al.

Source: American journal of medical genetics. Part A [Am J Med Genet A] 2024 Sep; Vol. 194 (9), pp. e63587. Date of Electronic Publication: 2024 Apr 30.

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

Concurrent rhabdomyosarcoma and neuroblastoma in an infant with Costello syndrome.

Authors: Yu H Sridhar S Mo J et al.

Source: Pediatric blood & cancer [Pediatr Blood Cancer] 2024 Aug; Vol. 71 (8), pp. e31084. Date of Electronic Publication: 2024 May 16.

Publication Type: Case Reports; Letter

Journal Info: Publisher: John Wiley Country of Publication: United States NLM ID: 101186624 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1545-5017 (Electronic) Linking ISSN: 15455009 NLM ISO Abbreviation: Pediatr Blood Cancer Subsets: MEDLINE

PTBP1 variants displaying altered nucleocytoplasmic distribution are responsible for a neurodevelopmental disorder with skeletal dysplasia.

Authors: Masson A Paccaud J Orefice M et al.

Source: The Journal of clinical investigation [J Clin Invest] 2025 Sep 18; Vol. 135 (22). Date of Electronic Publication: 2025 Sep 18 (Print Publication: 2025).

Publication Type: Journal Article; 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: eCollection Cited Medium: Internet ISSN: 1558-8238 (Electronic) Linking ISSN: 00219738 NLM ISO Abbreviation: J Clin Invest Subsets: MEDLINE

Parental Stress and Family Quality of Life in Families of Individuals Living With Angelman Syndrome.

Authors: Merton C Gwaltney A Booman A et al.

Source: Journal of intellectual disability research : JIDR [J Intellect Disabil Res] 2025 Sep; Vol. 69 (9), pp. 822-839. Date of Electronic Publication: 2025 Sep 02.

Publication Type: Journal Article

Journal Info: Publisher: Blackwell Scientific Publications on behalf of the Royal Society for Mentally Handicapped Children and Adults Country of Publication: England NLM ID: 9206090 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1365-2788 (Electronic) Linking ISSN: 09642633 NLM ISO Abbreviation: J Intellect Disabil Res Subsets: MEDLINE

The UBE3A-ATS antisense oligonucleotide rugonersen in children with Angelman syndrome: a phase 1 trial.

Authors: Hipp JF Bacino CA Bird LM et al.

Corporate Authors: Hipp JF Bacino CA Bird LM et al.

Source: Nature medicine [Nat Med] 2025 Sep; Vol. 31 (9), pp. 2936-2945. Date of Electronic Publication: 2025 Jul 11.

Publication Type: Journal Article; Clinical Trial, Phase I; Multicenter Study

Journal Info: Publisher: Nature Publishing Company Country of Publication: United States NLM ID: 9502015 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1546-170X (Electronic) Linking ISSN: 10788956 NLM ISO Abbreviation: Nat Med Subsets: MEDLINE

Novel method for detection of UBE3A protein in CSF from individuals with Angelman syndrome.

Authors: Mabrouk OS Comfort Harris NT Komorowski RW et al.

Source: Molecular genetics and metabolism [Mol Genet Metab] 2025 Jul; Vol. 145 (3), pp. 109132. Date of Electronic Publication: 2025 May 02.

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

Diazoxide choline extended-release tablet in people with Prader-Willi syndrome: results from long-term open-label study.

Authors: Miller JL Gevers E Bridges N et al.

Corporate Authors: Miller JL Gevers E Bridges N et al.

Source: Obesity (Silver Spring, Md.) [Obesity (Silver Spring)] 2024 Feb; Vol. 32 (2), pp. 252-261. Date of Electronic Publication: 2023 Nov 02.

Publication Type: Journal Article

Journal Info: Publisher: John Wiley & Sons Country of Publication: United States NLM ID: 101264860 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1930-739X (Electronic) Linking ISSN: 19307381 NLM ISO Abbreviation: Obesity (Silver Spring) Subsets: MEDLINE

Characterization of the prenatal renal phenotype associated with 17q12, HNF1B, microdeletions.

Authors: Verscaj CP Velez-Bartolomei F Bodle E et al.

Source: Prenatal diagnosis [Prenat Diagn] 2024 Feb; Vol. 44 (2), pp. 237-246. Date of Electronic Publication: 2023 Aug 26.

Publication Type: Review; Journal Article

Journal Info: Publisher: Wiley Country of Publication: England NLM ID: 8106540 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1097-0223 (Electronic) Linking ISSN: 01973851 NLM ISO Abbreviation: Prenat Diagn Subsets: MEDLINE