("noonan syndrome 3"[tiab:~0]) AND ("english and humans"[Filter]) AND ( ("practice guideline"[Filter]) OR (practice*[titl] AND (guideline[titl] OR parameter[titl] OR resource[titl] OR bulletin[titl] OR best[titl])) OR (genetic*[titl] AND (evaluation[ - Search Results

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("noonan syndrome 3"[tiab:~0]) AND ("english and humans"[Filter]) AND ( ("practice guideline"[Filter]) OR (practice*[titl] AND (guideline[titl] OR parameter[titl] OR resource[titl] OR bulletin[titl] OR best[titl])) OR (genetic*[titl] AND (evaluation[titl] OR counseling[titl] OR screening[titl] OR test*[titl])) OR (clinical[titl] AND ((expert[titl] AND consensus[titl]) OR utility[titl] OR guideline*[titl])) OR (management[titl] AND (clinical[titl] OR diagnos*[titl] OR recommendation[titl] OR pain[titl] OR surveillance[titl] OR emergency[titl] OR guideline*[titl] OR therap*)) OR (treatment[titl] AND ((evaluation[titl] AND diagnosis[titl]) OR (assessment[titl] AND prevention[titl]) OR therap*)) OR (Diagnos*[titl] AND (prenatal[titl] OR treatment[titl] OR follow-up[titl] OR statement[titl] OR criteria[titl] OR newborn[titl] OR differential[titl] OR neonatal[titl] OR neonate[titl])) OR (guideline*[titl] AND (pharmacogenetic*[titl] OR recommendation[titl] OR therap*[titl] OR evidence-based[titl] OR consensus[titl] OR (technical[titl] AND standard*[titl]) OR (molecular[titl] AND testing[titl]))) OR (risk[titl] AND assessment[titl]) OR (recommendation*[titl] AND (statement[titl] OR Evidence-based[titl] OR Consensus[titl])) OR (care AND ((Patient[titl] AND standard*[titl]) OR primary[titl] OR psychosocial[titl])) OR (Health[titl] AND supervision[titl]) OR (statement[titl] AND (policy[titl] OR position[titl] OR Consensus[titl])) OR (pharmacogenetics[titl] AND (Dosing[titl] OR therap*[titl] OR genotype*[titl] OR drug*[titl])) OR (Chemotherapy[titl] AND decision*[titl]) OR (screening[titl] AND (newborn[titl] OR neonat*[titl] OR detection[titl] OR diagnos*[titl])) OR (criteria[titl] OR genotype*[titl]) ) NOT ("Case reports"[Publication type] OR "clinical study"[Publication Type] OR "randomized controlled trial"[Publication Type])

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2024	1

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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.

SVAS was defined as (1) peak supravalvar velocity of 2 meters/second, (2) sinotubular junction or ascending aortic Z score <-2.0, or (3) sinotubular junction Z score <-1.5 with family history of SVAS. ...Of these, 39 of 47 underwent ELN sequencing, 20 of 39 (51%) of …

SVAS was defined as (1) peak supravalvar velocity of 2 meters/second, (2) sinotubular junction or ascending aortic Z score <-2.0, or ( …

Prenatal management and thoracoamniotic shunting in primary fetal pleural effusions: a single centre experience.

Pellegrinelli JM, Kohler A, Kohler M, Weingertner AS, Favre R. Pellegrinelli JM, et al. Prenat Diagn. 2012 May;32(5):467-71. doi: 10.1002/pd.3840. Epub 2012 Apr 13. Prenat Diagn. 2012. PMID: 22499187

Overall, 2 (4.8%) were diagnosed with a chromosomal condition and 4 (9.6%) with a congenital condition (3 Noonan syndrome, 1 mild structural cardiac defect). There were 5 terminations of pregnancy (TOP), 3 in utero deaths and 33 liveborn neonates (80%) …

Overall, 2 (4.8%) were diagnosed with a chromosomal condition and 4 (9.6%) with a congenital condition (3 Noonan syndrome …

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