177 related articles for article (PubMed ID: 25358541)
1. Hydrops, fetal pleural effusions and chylothorax in three patients with CBL mutations.
Bülow L; Lissewski C; Bressel R; Rauch A; Stark Z; Zenker M; Bartsch O
Am J Med Genet A; 2015 Feb; 167A(2):394-9. PubMed ID: 25358541
[TBL] [Abstract][Full Text] [Related]
2. Spectrum of mutations and genotype-phenotype analysis in Noonan syndrome patients with RIT1 mutations.
Yaoita M; Niihori T; Mizuno S; Okamoto N; Hayashi S; Watanabe A; Yokozawa M; Suzumura H; Nakahara A; Nakano Y; Hokosaki T; Ohmori A; Sawada H; Migita O; Mima A; Lapunzina P; Santos-Simarro F; García-Miñaúr S; Ogata T; Kawame H; Kurosawa K; Ohashi H; Inoue S; Matsubara Y; Kure S; Aoki Y
Hum Genet; 2016 Feb; 135(2):209-22. PubMed ID: 26714497
[TBL] [Abstract][Full Text] [Related]
3. Syndromic and single gene disorders associated with fetal pleural effusion (I): Noonan syndrome, RASopathy and congenital lymphatic anomalies.
Chen CP
Taiwan J Obstet Gynecol; 2024 Mar; 63(2):174-177. PubMed ID: 38485311
[TBL] [Abstract][Full Text] [Related]
4. Germline mutation of CBL is associated with moyamoya disease in a child with juvenile myelomonocytic leukemia and Noonan syndrome-like disorder.
Hyakuna N; Muramatsu H; Higa T; Chinen Y; Wang X; Kojima S
Pediatr Blood Cancer; 2015 Mar; 62(3):542-4. PubMed ID: 25283271
[TBL] [Abstract][Full Text] [Related]
5. Chromosomal abnormalities associated with fetal pleural effusion (I): General overview.
Chen CP
Taiwan J Obstet Gynecol; 2024 Mar; 63(2):165-167. PubMed ID: 38485309
[TBL] [Abstract][Full Text] [Related]
6. Hennekam syndrome presenting as nonimmune hydrops fetalis, congenital chylothorax, and congenital pulmonary lymphangiectasia.
Bellini C; Mazzella M; Arioni C; Campisi C; Taddei G; Tomà P; Boccardo F; Hennekam RC; Serra G
Am J Med Genet A; 2003 Jul; 120A(1):92-6. PubMed ID: 12794699
[TBL] [Abstract][Full Text] [Related]
7. Germline CBL mutation associated with a noonan-like syndrome with primary lymphedema and teratoma associated with acquired uniparental isodisomy of chromosome 11q23.
Hanson HL; Wilson MJ; Short JP; Chioza BA; Crosby AH; Nash RM; Marks KJ; Mansour S
Am J Med Genet A; 2014 Apr; 164A(4):1003-9. PubMed ID: 24458550
[TBL] [Abstract][Full Text] [Related]
8. Germline CBL mutations cause developmental abnormalities and predispose to juvenile myelomonocytic leukemia.
Niemeyer CM; Kang MW; Shin DH; Furlan I; Erlacher M; Bunin NJ; Bunda S; Finklestein JZ; Gorr TA; Mehta P; Schmid I; Kropshofer G; Corbacioglu S; Lang PJ; Klein C; Schlegel PG; Heinzmann A; Schneider M; Starý J; van den Heuvel-Eibrink MM; Hasle H; Locatelli F; Sakai D; Archambeault S; Chen L; Russell RC; Sybingco SS; Ohh M; Braun BS; Flotho C; Loh ML
Nat Genet; 2010 Sep; 42(9):794-800. PubMed ID: 20694012
[TBL] [Abstract][Full Text] [Related]
9. Congenital Chylothorax and Hydrops Fetalis: A Novel Neonatal Presentation of
Gallipoli A; MacLean G; Walia JS; Sehgal A
Pediatrics; 2021 Mar; 147(3):. PubMed ID: 33608416
[TBL] [Abstract][Full Text] [Related]
10. Rare case of congenital chylothorax and challenges in its management.
Ball PL; Nethercott S; Beardsall K
BMJ Case Rep; 2019 May; 12(5):. PubMed ID: 31122954
[TBL] [Abstract][Full Text] [Related]
11. A case of splenomegaly in CBL syndrome.
Coe RR; McKinnon ML; Tarailo-Graovac M; Ross CJ; Wasserman WW; Friedman JM; Rogers PC; van Karnebeek CDM
Eur J Med Genet; 2017 Jul; 60(7):374-379. PubMed ID: 28414188
[TBL] [Abstract][Full Text] [Related]
12. Molecular Diversity and Associated Phenotypic Spectrum of Germline CBL Mutations.
Martinelli S; Stellacci E; Pannone L; D'Agostino D; Consoli F; Lissewski C; Silvano M; Cencelli G; Lepri F; Maitz S; Pauli S; Rauch A; Zampino G; Selicorni A; Melançon S; Digilio MC; Gelb BD; De Luca A; Dallapiccola B; Zenker M; Tartaglia M
Hum Mutat; 2015 Aug; 36(8):787-96. PubMed ID: 25952305
[TBL] [Abstract][Full Text] [Related]
13. Hydrops fetalis in a preterm newborn heterozygous for the c.4A>G SHOC2 mutation.
Gargano G; Guidotti I; Balestri E; Vagnarelli F; Rosato S; Comitini G; Wischmeijer A; La Sala GB; Iughetti L; Cordeddu V; Rossi C; Tartaglia M; Garavelli L
Am J Med Genet A; 2014 Apr; 164A(4):1015-20. PubMed ID: 24458587
[TBL] [Abstract][Full Text] [Related]
14. Adults with germline CBL mutation complicated with juvenile myelomonocytic leukemia at infancy.
Muraoka M; Okuma C; Kanamitsu K; Ishida H; Kanazawa Y; Washio K; Seki M; Kato M; Takita J; Sato Y; Ogawa S; Tsukahara H; Oda M; Shimada A
J Hum Genet; 2016 Jun; 61(6):523-6. PubMed ID: 26911351
[TBL] [Abstract][Full Text] [Related]
15. Juvenile myelomonocytic leukemia due to a germline CBL Y371C mutation: 35-year follow-up of a large family.
Pathak A; Pemov A; McMaster ML; Dewan R; Ravichandran S; Pak E; Dutra A; Lee HJ; Vogt A; Zhang X; Yeager M; Anderson S; Kirby M; ; ; Caporaso N; Greene MH; Goldin LR; Stewart DR
Hum Genet; 2015 Jul; 134(7):775-87. PubMed ID: 25939664
[TBL] [Abstract][Full Text] [Related]
16. RASopathy-associated CBL germline mutations cause aberrant ubiquitylation and trafficking of EGFR.
Brand K; Kentsch H; Glashoff C; Rosenberger G
Hum Mutat; 2014 Nov; 35(11):1372-81. PubMed ID: 25178484
[TBL] [Abstract][Full Text] [Related]
17. Gene mutations in the Ras pathway and the prognostic implication in Korean patients with juvenile myelomonocytic leukemia.
Park HD; Lee SH; Sung KW; Koo HH; Jung NG; Cho B; Kim HK; Park IA; Lee KO; Ki CS; Kim SH; Yoo KH; Kim HJ
Ann Hematol; 2012 Apr; 91(4):511-7. PubMed ID: 21901340
[TBL] [Abstract][Full Text] [Related]
18. Mutations of an E3 ubiquitin ligase c-Cbl but not TET2 mutations are pathogenic in juvenile myelomonocytic leukemia.
Muramatsu H; Makishima H; Jankowska AM; Cazzolli H; O'Keefe C; Yoshida N; Xu Y; Nishio N; Hama A; Yagasaki H; Takahashi Y; Kato K; Manabe A; Kojima S; Maciejewski JP
Blood; 2010 Mar; 115(10):1969-75. PubMed ID: 20008299
[TBL] [Abstract][Full Text] [Related]
19. [A new "rasopathy": mutation in the CBL tumour-suppressor gene in neuro-cardio-facio-cutaneous syndrome similar to Noonan syndrome].
Dereure O
Ann Dermatol Venereol; 2011 Jan; 138(1):75-6. PubMed ID: 21276471
[No Abstract] [Full Text] [Related]
20. Chromosomal abnormalities associated with fetal pleural effusion (II): Specific and non-specific chromosome aberrations.
Chen CP
Taiwan J Obstet Gynecol; 2024 Mar; 63(2):168-173. PubMed ID: 38485310
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
