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1984 1
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Page 1
Health Care Supervision for Children With Williams Syndrome.
Morris CA, Braddock SR; COUNCIL ON GENETICS. Morris CA, et al. Pediatrics. 2020 Feb;145(2):e20193761. doi: 10.1542/peds.2019-3761. Epub 2020 Jan 21. Pediatrics. 2020. PMID: 31964759 Review.
This set of recommendations is designed to assist the pediatrician in caring for children with Williams syndrome (WS) who were diagnosed by using clinical features and with chromosome 7 microdeletion confirmed by fluorescence in situ hybridization, chromosome microa …
This set of recommendations is designed to assist the pediatrician in caring for children with Williams syndrome (WS) who were …
Management of Sleep Disorders in Children With Neurodevelopmental Disorders: A Review.
Blackmer AB, Feinstein JA. Blackmer AB, et al. Pharmacotherapy. 2016 Jan;36(1):84-98. doi: 10.1002/phar.1686. Pharmacotherapy. 2016. PMID: 26799351 Review.
Examples of NDDs discussed in this review include autism spectrum disorder, cerebral palsy, Rett syndrome, Angelman syndrome, Williams syndrome, and Smith-Magenis syndrome. ...Sleep hygiene must be implemented as first-line therapy; if sl …
Examples of NDDs discussed in this review include autism spectrum disorder, cerebral palsy, Rett syndrome, Angelman syndrome, …
Neuropsychological Genotype-Phenotype in Patients with Williams Syndrome with Atypical Deletions: A Systematic Review.
Serrano-Juárez CA, Prieto-Corona B, Rodríguez-Camacho M, Sandoval-Lira L, Villalva-Sánchez ÁF, Yáñez-Téllez MG, López MFR. Serrano-Juárez CA, et al. Neuropsychol Rev. 2023 Dec;33(4):891-911. doi: 10.1007/s11065-022-09571-2. Epub 2022 Dec 15. Neuropsychol Rev. 2023. PMID: 36520254 Review.
Williams syndrome (WS) is a neurodevelopmental disorder caused by a microdeletion in the q11.23 region of chromosome 7. ...The objective of this systematic review was to analyze and synthesize the variability of the cognitive and behavioral profile of WS with atypic …
Williams syndrome (WS) is a neurodevelopmental disorder caused by a microdeletion in the q11.23 region of chromosome 7. ...The …
Peri-procedural risk stratification and management of patients with Williams syndrome.
Collins Ii RT, Collins MG, Schmitz ML, Hamrick JT. Collins Ii RT, et al. Congenit Heart Dis. 2017 Mar;12(2):133-142. doi: 10.1111/chd.12447. Congenit Heart Dis. 2017. PMID: 28382779 Review.
Williams syndrome (WS) is a congenital, multisystem disorder affecting the cardiovascular, connective tissue, and central nervous systems in 1 in 10 000 live births. ...The goal of this review is to provide thoughtful, safe and effective management strategies for th …
Williams syndrome (WS) is a congenital, multisystem disorder affecting the cardiovascular, connective tissue, and central nerv …
Risk assessment and anesthetic management of patients with Williams syndrome: a comprehensive review.
Matisoff AJ, Olivieri L, Schwartz JM, Deutsch N. Matisoff AJ, et al. Paediatr Anaesth. 2015 Dec;25(12):1207-15. doi: 10.1111/pan.12775. Epub 2015 Oct 12. Paediatr Anaesth. 2015. PMID: 26456018 Review.
Since the first description in 1961, several case reports have documented an increased incidence of anesthesia-related cardiac arrest in patients with Williams-Beuren syndrome, commonly known as Williams syndrome (WS). ...
Since the first description in 1961, several case reports have documented an increased incidence of anesthesia-related cardiac arrest in pat …
OROFACIAL FINDINGS AND DENTAL MANAGEMENT OF WILLIAMS SYNDROME.
Cogulu D, Hazan F, Dindaroglu FC. Cogulu D, et al. Genet Couns. 2015;26(4):437-42. Genet Couns. 2015. PMID: 26852515
Williams Syndrome is a microdeletion syndrome characterized by a number of developmental and physical abnormalities. The aim of the present study was to evaluate the oral abnormalities and dental management of patients with Williams Syndrome. Fi …
Williams Syndrome is a microdeletion syndrome characterized by a number of developmental and physical abnormalities. Th …
Noninvasive single-cell-based prenatal genetic testing: A proof of concept clinical study.
Bellair M, Amaral E, Ouren M, Roark C, Kim J, O'Connor A, Soriano A, Schindler ML, Wapner RJ, Stone JL, Tavella N, Merriam A, Perley L, Breman AM, Beaudet AL. Bellair M, et al. Prenat Diagn. 2024 Mar;44(3):304-316. doi: 10.1002/pd.6529. Epub 2024 Feb 27. Prenat Diagn. 2024. PMID: 38411249
Luna results were normal for 160 singletons while 15 cases were abnormal (14 aneuploidy and one monozygotic twin with Williams syndrome deletion). The deletion was confirmed in both fetuses. ...
Luna results were normal for 160 singletons while 15 cases were abnormal (14 aneuploidy and one monozygotic twin with Williams syn …
Middle aortic syndrome: from presentation to contemporary open surgical and endovascular treatment.
Delis KT, Gloviczki P. Delis KT, et al. Perspect Vasc Surg Endovasc Ther. 2005 Sep;17(3):187-203. doi: 10.1177/153100350501700302. Perspect Vasc Surg Endovasc Ther. 2005. PMID: 16273154 Review.
Middle aortic syndrome (MAS) is a clinical condition generated by segmental narrowing of the abdominal or distal descending thoracic aorta. MAS may be acquired, caused by Takayasu's or temporal arteritis (giant cell arteritides), neurofibromatosis, fibromuscular dysplasia, …
Middle aortic syndrome (MAS) is a clinical condition generated by segmental narrowing of the abdominal or distal descending thoracic …
Differential diagnosis of vitamin D-related hypercalcemia using serum vitamin D metabolite profiling.
Kaufmann M, Schlingmann KP, Berezin L, Molin A, Sheftel J, Vig M, Gallagher JC, Nagata A, Masoud SS, Sakamoto R, Nagasawa K, Uesugi M, Kottler ML, Konrad M, Jones G. Kaufmann M, et al. J Bone Miner Res. 2021 Jul;36(7):1340-1350. doi: 10.1002/jbmr.4306. Epub 2021 May 10. J Bone Miner Res. 2021. PMID: 33856702 Free article.
Profiles were compared to those of hypercalcemia patients with hypervitaminosis D, Williams-Beuren syndrome (WBS), CYP24A1 mutation, and normal subjects with a range of 25-OH-D levels. ...Because serum 25-OH-D(3) and 24,25-(OH)(2) D(3) remained normal, we excluded t …
Profiles were compared to those of hypercalcemia patients with hypervitaminosis D, Williams-Beuren syndrome (WBS), CYP24A1 mut …
28 results