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Items: 1 to 20 of 136

1.

Targeted ultrasound examination and DNA testing for Noonan syndrome, in fetuses with increased nuchal translucency and normal karyotype.

Bakker M, Pajkrt E, Mathijssen IB, Bilardo CM.

Prenat Diagn. 2011 Sep;31(9):833-40. doi: 10.1002/pd.2782. Epub 2011 Jun 27. Review.

PMID:
21706501
2.

Prenatal diagnostic testing of the Noonan syndrome genes in fetuses with abnormal ultrasound findings.

Croonen EA, Nillesen WM, Stuurman KE, Oudesluijs G, van de Laar IM, Martens L, Ockeloen C, Mathijssen IB, Schepens M, Ruiterkamp-Versteeg M, Scheffer H, Faas BH, van der Burgt I, Yntema HG.

Eur J Hum Genet. 2013 Sep;21(9):936-42. doi: 10.1038/ejhg.2012.285. Epub 2013 Jan 16.

3.

PTPN11 analysis for the prenatal diagnosis of Noonan syndrome in fetuses with abnormal ultrasound findings.

Lee KA, Williams B, Roza K, Ferguson H, David K, Eddleman K, Stone J, Edelmann L, Richard G, Gelb BD, Kornreich R.

Clin Genet. 2009 Feb;75(2):190-4. doi: 10.1111/j.1399-0004.2008.01085.x. Epub 2008 Aug 26.

PMID:
18759865
4.

Postnatal phenotype according to prenatal ultrasound features of Noonan syndrome: a retrospective study of 28 cases.

Gaudineau A, Doray B, Schaefer E, Sananès N, Fritz G, Kohler M, Alembik Y, Viville B, Favre R, Langer B.

Prenat Diagn. 2013 Mar;33(3):238-41. doi: 10.1002/pd.4051. Epub 2013 Jan 24.

PMID:
23345196
5.

Prenatal features of Noonan syndrome.

Nisbet DL, Griffin DR, Chitty LS.

Prenat Diagn. 1999 Jul;19(7):642-7.

PMID:
10419612
6.

Prenatal DNA diagnosis of Noonan syndrome in a fetus with massive hygroma colli, pleural effusion and ascites.

Schlüter G, Steckel M, Schiffmann H, Harms K, Viereck V, Emons G, Burfeind P, Pauer HU.

Prenat Diagn. 2005 Jul;25(7):574-6.

PMID:
16032767
7.

Persistence of nuchal edema and distended jugular lymphatic sacs in Noonan syndrome.

Bekker MN, Go AT, van Vugt JM.

Fetal Diagn Ther. 2007;22(4):245-8. Epub 2007 Mar 16.

PMID:
17369688
8.

Noonan syndrome: a cryptic condition in early gestation.

Achiron R, Heggesh J, Grisaru D, Goldman B, Lipitz S, Yagel S, Frydman M.

Am J Med Genet. 2000 May 29;92(3):159-65.

PMID:
10817648
9.

Poor prenatal detection rate of cardiac anomalies in Noonan syndrome.

Menashe M, Arbel R, Raveh D, Achiron R, Yagel S.

Ultrasound Obstet Gynecol. 2002 Jan;19(1):51-5. Review.

10.

Prenatal phenotypic overlap of Costello syndrome and severe Noonan syndrome by tri-dimensional ultrasonography.

Levaillant JM, Gérard-Blanluet M, Holder-Espinasse M, Valat-Rigot AS, Devisme L, Cavé H, Manouvrier-Hanu S.

Prenat Diagn. 2006 Apr;26(4):340-4.

PMID:
16566035
11.

Karyotype and outcome of fetuses diagnosed with cystic hygroma in the first trimester in relation to nuchal translucency thickness.

Kharrat R, Yamamoto M, Roume J, Couderc S, Vialard F, Hillion Y, Ville Y.

Prenat Diagn. 2006 Apr;26(4):369-72.

PMID:
16566042
12.

Increased nuchal translucency in the presence of normal chromosomes: what's next?

Alamillo CM, Fiddler M, Pergament E.

Curr Opin Obstet Gynecol. 2012 Mar;24(2):102-8. doi: 10.1097/GCO.0b013e3283505b25. Review.

PMID:
22277886
13.

Distended jugular lymphatic sacs in fetuses with increased nuchal translucency: correlation with first-trimester findings in aberrant karyotypes.

Eckmann-Scholz C, Salmassi A, Jonat W, Alkatout I.

J Matern Fetal Neonatal Med. 2014 Feb;27(3):257-60. doi: 10.3109/14767058.2013.809416. Epub 2013 Jun 27.

PMID:
23718767
14.

Prenatal karyotype results of fetuses with nuchal edema, cystic hygroma, and non-immune hydrops.

Gezer C, Ekin A, Gezer NS, Ertas IE, Avci ME, Uyar I, Ciftci S, Taner CE.

Clin Exp Obstet Gynecol. 2015;42(5):586-9.

PMID:
26524803
15.

Aberrant lymphatic development in euploid fetuses with increased nuchal translucency including Noonan syndrome.

de Mooij YM, van den Akker NM, Bekker MN, Bartelings MM, van Vugt JM, Gittenberger-de Groot AC.

Prenat Diagn. 2011 Feb;31(2):159-66. doi: 10.1002/pd.2666. Epub 2011 Jan 4.

PMID:
21268034
16.

First-trimester cystic hygroma: relationship of nuchal translucency thickness and outcomes.

Scholl J, Durfee SM, Russell MA, Heard AJ, Iyer C, Alammari R, Coletta J, Craigo SD, Fuchs KM, D'Alton M, House M, Jennings RW, Ecker J, Panda B, Tanner C, Wolfberg A, Benson CB.

Obstet Gynecol. 2012 Sep;120(3):551-9. doi: 10.1097/AOG.0b013e318264f829.

PMID:
22872145
17.

How necessary is to analyze PTPN11 gene in fetuses with first trimester cystic hygroma and normal karyotype?

Gezdirici A, Ekiz A, Güleç EY, Kaya B, Sezer S, Atış Aydın A.

J Matern Fetal Neonatal Med. 2017 Apr;30(8):938-941. doi: 10.1080/14767058.2016.1191463. Epub 2016 Jun 8.

PMID:
27193571
18.

Increased nuchal translucency with normal karyotype and anomaly scan: what next?

Bakker M, Pajkrt E, Bilardo CM.

Best Pract Res Clin Obstet Gynaecol. 2014 Apr;28(3):355-66. doi: 10.1016/j.bpobgyn.2013.10.004. Epub 2013 Dec 3. Review.

PMID:
24332983
19.

[Increased nuchal translucency and cystic hygroma in the first trimester: prenatal diagnosis and neonatal outcome].

Ducarme G, Graesslin O, Alanio E, Bige V, Gaillard D, Gabriel R.

Gynecol Obstet Fertil. 2005 Oct;33(10):750-4. French.

PMID:
16139544
20.

Prenatal sonographic documentation of cystic hygroma regression in Noonan syndrome.

Donnenfeld AE, Nazir MA, Sindoni F, Librizzi RJ.

Am J Med Genet. 1991 Jun 15;39(4):461-5.

PMID:
1877625

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