PubMed for id: 59799

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American Academy of Pediatrics: Health care supervision for children with Williams syndrome.

Committee on Genetics. Committee on Genetics. Pediatrics. 2001 May;107(5):1192-204. Pediatrics. 2001. PMID: 11331709

Numerical study of hemodynamic flow in the aortic vessel of Williams syndrome patient with congenital heart disease.

Jack JT, Jensen M, Collins RT, Chan FP, Millett PC. Jack JT, et al. J Biomech. 2024 Apr 29;168:112124. doi: 10.1016/j.jbiomech.2024.112124. Online ahead of print. J Biomech. 2024. PMID: 38701696

Case report: Development of central precocious puberty in a girl with late-diagnosed simple virilizing congenital adrenal hyperplasia complicated with Williams syndrome.

Joo EY, Yoo MJ, Kim SJ, Jang W, Lee JE. Joo EY, et al. Front Endocrinol (Lausanne). 2024 Apr 18;15:1352552. doi: 10.3389/fendo.2024.1352552. eCollection 2024. Front Endocrinol (Lausanne). 2024. PMID: 38699383 Free PMC article.

Case Report: Rapid and progressive left ventricular endocardial calcification in an infant with Williams syndrome.

Zhou J, Liu D, Chen J. Zhou J, et al. Front Pediatr. 2024 Apr 8;12:1324585. doi: 10.3389/fped.2024.1324585. eCollection 2024. Front Pediatr. 2024. PMID: 38650994 Free PMC article.

Identification of Prostaglandin I₂ Synthase Rare Variants in Patients With Williams Syndrome and Severe Peripheral Pulmonary Stenosis.

Chida-Nagai A, Akagawa H, Sawai S, Ma YJ, Yakuwa S, Muneuchi J, Yasuda K, Yamazawa H, Yamamoto T, Takakuwa E, Tomaru U, Furutani Y, Kato T, Harada G, Inai K, Nakanishi T, Manabe A, Takeda A, Jing ZC. Chida-Nagai A, et al. J Am Heart Assoc. 2024 May 7;13(9):e032872. doi: 10.1161/JAHA.123.032872. Epub 2024 Apr 19. J Am Heart Assoc. 2024. PMID: 38639351 Free article.

Genetic Testing for Supravalvar Aortic Stenosis: What to Do When It Is Not Williams Syndrome.

Stephens SB, Novy T, Spurzem GN, Jacob B, Beecroft T, Soludczyk E, Kozel BA, Weigand J, Morris SA. Stephens SB, et al. J Am Heart Assoc. 2024 Apr 16;13(8):e034048. doi: 10.1161/JAHA.123.034048. Epub 2024 Apr 9. J Am Heart Assoc. 2024. PMID: 38591341 Free article.

Using a community engaged research approach to develop the social skills training program for adults with Williams syndrome.

Fisher MH, Black RS, Kammes RR. Fisher MH, et al. J Intellect Disabil. 2024 Apr 5:17446295241245783. doi: 10.1177/17446295241245783. Online ahead of print. J Intellect Disabil. 2024. PMID: 38578112

Development of a Low Cost Semiquantitative Polymerase Chain Reaction Assay for Molecular Diagnosis of Williams Syndrome.

Ranaweera DM, Silva DC, Samarasinghe D, Perera S, Kugalingam N, Samarasinghe SR, Madushani WY, Jayaweera HHE, Gunewardene S, Muneeswaran K, Gnanam VS, Chandrasekharan NV. Ranaweera DM, et al. Clin Lab. 2024 Mar 1;70(3). doi: 10.7754/Clin.Lab.2023.230710. Clin Lab. 2024. PMID: 38469782

Neuronal deletion of Gtf2i results in developmental microglial alterations in a mouse model related to Williams syndrome.

Bar E, Fischer I, Rokach M, Elad-Sfadia G, Shirenova S, Ophir O, Trangle SS, Okun E, Barak B. Bar E, et al. Glia. 2024 Jun;72(6):1117-1135. doi: 10.1002/glia.24519. Epub 2024 Mar 7. Glia. 2024. PMID: 38450767

Pragmatic skills in people with Williams syndrome: the perception of families.

Sepúlveda EM, Resa PL. Sepúlveda EM, et al. Orphanet J Rare Dis. 2024 Mar 1;19(1):95. doi: 10.1186/s13023-024-03016-0. Orphanet J Rare Dis. 2024. PMID: 38429809 Free PMC article.

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