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Items: 1 to 20 of 91

1.

Propionic acidemia in a male newborn with Noonan syndrome: a case report.

Bouet K, Matías I, García I, García L, González MC, Valcárcel M.

Bol Asoc Med P R. 2012 Jan-Mar;104(1):37-9.

PMID:
22788076
2.

Web neck anomaly and its association with congenital heart disease.

Berdahl LD, Wenstrom KD, Hanson JW.

Am J Med Genet. 1995 Apr 10;56(3):304-7.

PMID:
7778596
3.

Noonan syndrome presented with cystic hygroma and chylothorax: case report.

Huang HC, Wang TJ, Huang CB.

Changgeng Yi Xue Za Zhi. 1999 Jun;22(2):313-8.

PMID:
10493040
4.

[Variability in clinical expression of Noonan syndrome--the report of two familial cases].

Klapecki J, Obersztyn E, Łaniewski-Wołłk M, Szpecht-Potocka A, Mazurczak T.

Wiad Lek. 2008;61(1-3):74-81. Polish.

PMID:
18717048
5.

Death of a Neonate With a Negative Autopsy and Ketoacidosis: A Case Report of Propionic Acidemia.

Krizova A, Herath JC.

Am J Forensic Med Pathol. 2015 Sep;36(3):193-5. doi: 10.1097/PAF.0000000000000156.

PMID:
26017692
6.

Cutaneous lymphangioma and amegakaryocytic thrombocytopenia in Noonan syndrome.

Evans DG, Lonsdale RN, Patton MA.

Clin Genet. 1991 Mar;39(3):228-32.

PMID:
2036745
7.

Noonan syndrome presenting with transient cystic hygroma.

Gandhi SV, Howarth ES, Krarup KC, Konje JC.

J Obstet Gynaecol. 2004 Feb;24(2):183-4. No abstract available.

PMID:
14766467
8.

Orofacial aspects in Noonan syndrome: 2 case report.

Ortega Ade O, Guaré Rde O, Kawaji NS, Ciamponi AL.

J Dent Child (Chic). 2008 Jan-Apr;75(1):85-90.

PMID:
18505655
9.

[Hydrops fetalis associated with Noonan syndrome].

Paupe A, Chassevent J, Lenclen R, Blanc P, Carbajal R, Hoenn E, Olivier-Martin M.

Pediatrie. 1991;46(11):731-4. French.

PMID:
1661402
10.

Juvenile myelomonocytic leukemia and Noonan syndrome.

Choong K, Freedman MH, Chitayat D, Kelly EN, Taylor G, Zipursky A.

J Pediatr Hematol Oncol. 1999 Nov-Dec;21(6):523-7. Review.

PMID:
10598665
11.

Neurofibromatosis-Noonan syndrome or LEOPARD Syndrome? A clinical dilemma.

Tullu MS, Muranjan MN, Kantharia VC, Parmar RC, Sahu DR, Bavdekar SB, Bharucha BA.

J Postgrad Med. 2000 Apr-Jun;46(2):98-100.

12.

Successful pregnancy in a Noonan syndrome patient after 3 unsuccessful pregnancies from severe fetal hydrops: a case report.

Joó JG, Beke A, Tóth-Pál E, Csaba A, Papp C.

J Reprod Med. 2005 May;50(5):373-6.

PMID:
15971489
13.

[Noonan syndrome with atrial septal defect and hypertrophic cardiomyopathy].

Nakayama M, Itou T, Abe T, Yamana T, Kawamura A, Yoshizumi T, Sunada M.

Kyobu Geka. 2009 Jul;62(7):535-7. Japanese.

PMID:
19588822
14.

Lymphedema in Noonan syndrome: clues to pathogenesis and prenatal diagnosis and review of the literature.

Witt DR, Hoyme HE, Zonana J, Manchester DK, Fryns JP, Stevenson JG, Curry CJ, Hall JG.

Am J Med Genet. 1987 Aug;27(4):841-56. Review.

PMID:
3321992
15.

Lethal presentation of neurofibromatosis and Noonan syndrome.

Prada CE, Zarate YA, Hagenbuch S, Lovell A, Schorry EK, Hopkin RJ.

Am J Med Genet A. 2011 Jun;155A(6):1360-6. doi: 10.1002/ajmg.a.33996. Epub 2011 May 12.

PMID:
21567923
16.

Noonan syndrome associated with neuroblastoma: a case report.

Lopez-Miranda B, Westra SJ, Yazdani S, Boechat MI.

Pediatr Radiol. 1997 Apr;27(4):324-6.

PMID:
9162899
17.

Propionic acidemia: neonatal versus selective metabolic screening.

Grünert SC, Müllerleile S, de Silva L, Barth M, Walter M, Walter K, Meissner T, Lindner M, Ensenauer R, Santer R, Bodamer OA, Baumgartner MR, Brunner-Krainz M, Karall D, Haase C, Knerr I, Marquardt T, Hennermann JB, Steinfeld R, Beblo S, Koch HG, Konstantopoulou V, Scholl-Bürgi S, van Teeffelen-Heithoff A, Suormala T, Sperl W, Kraus JP, Superti-Furga A, Schwab KO, Sass JO.

J Inherit Metab Dis. 2012 Jan;35(1):41-9. doi: 10.1007/s10545-011-9419-0. Epub 2011 Dec 2.

PMID:
22134541
18.

Living-donor liver transplantation for propionic acidemia.

Kasahara M, Sakamoto S, Kanazawa H, Karaki C, Kakiuchi T, Shigeta T, Fukuda A, Kosaki R, Nakazawa A, Ishige M, Nagao M, Shigematsu Y, Yorifuji T, Naiki Y, Horikawa R.

Pediatr Transplant. 2012 May;16(3):230-4. doi: 10.1111/j.1399-3046.2011.01607.x. Epub 2011 Dec 7.

PMID:
22151065
19.

Systemic lupus erythematosus in a man with Noonan syndrome.

Martin DM, Gencyuz CF, Petty EM.

Am J Med Genet. 2001 Jul 22;102(1):59-62.

20.

Genetics of sonographically detected intrauterine fetal cystic hygromas.

Newman DE, Cooperberg PL.

J Can Assoc Radiol. 1984 Mar;35(1):77-9.

PMID:
6233285

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