Literature DB >> 28363362

Congenital Chylothorax as the Initial Presentation of PTPN11-Associated Noonan Syndrome.

Darius Ebrahimi-Fakhari1, Eli Freiman2, Monica H Wojcik3, Katie Krone4, Alicia Casey4, Ariel S Winn2, Amy E Roberts5, Beth D Harper6.   

Abstract

Entities:  

Keywords:  RAS/MAPK; RASopathy; facial dysmorphism; lymphatic malformation; pleural effusion; protein-tyrosine phosphatase, nonreceptor-type, 1; vertebral anomalies, 1

Mesh：

Substances：

Year:  2017        PMID： 28363362      PMCID： PMC5529256          DOI： 10.1016/j.jpeds.2017.02.042

Source DB:  PubMed          Journal:  J Pediatr        ISSN： 0022-3476            Impact factor:   4.406


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  17 in total

1.  PTPN11, SOS1, KRAS, and RAF1 gene analysis, and genotype-phenotype correlation in Korean patients with Noonan syndrome.

Authors:  Jung Min Ko; Jae-Min Kim; Gu-Hwan Kim; Han-Wook Yoo
Journal:  J Hum Genet       Date:  2008-11-20       Impact factor: 3.172

2.  PTPN11 gene analysis in 74 Brazilian patients with Noonan syndrome or Noonan-like phenotype.

Authors:  Débora R Bertola; Alexandre C Pereira; Lílian Maria José Albano; Paulo S L De Oliveira; Chong A Kim; José Eduardo Krieger
Journal:  Genet Test       Date:  2006

3.  PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity.

Authors:  Marco Tartaglia; Kamini Kalidas; Adam Shaw; Xiaoling Song; Dan L Musat; Ineke van der Burgt; Han G Brunner; Débora R Bertola; Andrew Crosby; Andra Ion; Raju S Kucherlapati; Steve Jeffery; Michael A Patton; Bruce D Gelb
Journal:  Am J Hum Genet       Date:  2002-05-01       Impact factor: 11.025

4.  The face of Noonan syndrome: Does phenotype predict genotype.

Authors:  Judith E Allanson; Axel Bohring; Helmuth-Guenther Dörr; Andreas Dufke; Gabrielle Gillessen-Kaesbach; Denise Horn; Rainer König; Christian P Kratz; Kerstin Kutsche; Silke Pauli; Salmo Raskin; Anita Rauch; Anne Turner; Dagmar Wieczorek; Martin Zenker
Journal:  Am J Med Genet A       Date:  2010-08       Impact factor: 2.802

5.  Mutational analysis of PTPN11 gene in Taiwanese children with Noonan syndrome.

Authors:  Chia-Sui Hung; Ju-Li Lin; Yann-Jinn Lee; Shuan-Pei Lin; Mei-Chyn Chao; Fu-Sung Lo
Journal:  J Formos Med Assoc       Date:  2007-02       Impact factor: 3.282

6.  Noonan syndrome with spontaneous chylothorax at birth.

Authors:  D K Chan; N K Ho
Journal:  Aust Paediatr J       Date:  1989-10

Review 7.  Genetics of lymphatic anomalies.

Authors:  Pascal Brouillard; Laurence Boon; Miikka Vikkula
Journal:  J Clin Invest       Date:  2014-03-03       Impact factor: 14.808

8.  Chylothorax development in infants and children in the UK.

Authors:  Caroline Haines; Bronagh Walsh; Margaret Fletcher; Peter J Davis
Journal:  Arch Dis Child       Date:  2014-04-04       Impact factor: 3.791

9.  Twin infant with lymphatic dysplasia diagnosed with Noonan syndrome by molecular genetic testing.

Authors:  Deepan Mathur; Santhosh Somashekar; Cristina Navarrete; Maria M Rodriguez
Journal:  Fetal Pediatr Pathol       Date:  2014-04-22       Impact factor: 0.958

10.  The lymphatic phenotype in Noonan and Cardiofaciocutaneous syndrome.

Authors:  Sarah Joyce; Kristiana Gordon; Glen Brice; Pia Ostergaard; Rani Nagaraja; John Short; Sandra Moore; Peter Mortimer; Sahar Mansour
Journal:  Eur J Hum Genet       Date:  2015-08-05       Impact factor: 4.246
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  5 in total

1.  ARAF recurrent mutation causes central conducting lymphatic anomaly treatable with a MEK inhibitor.

Authors:  Dong Li; Michael E March; Alvaro Gutierrez-Uzquiza; Charlly Kao; Christoph Seiler; Erin Pinto; Leticia S Matsuoka; Mark R Battig; Elizabeth J Bhoj; Tara L Wenger; Lifeng Tian; Nora Robinson; Tiancheng Wang; Yichuan Liu; Brant M Weinstein; Matthew Swift; Hyun Min Jung; Courtney N Kaminski; Rosetta Chiavacci; Jonathan A Perkins; Michael A Levine; Patrick M A Sleiman; Patricia J Hicks; Janet T Strausbaugh; Jean B Belasco; Yoav Dori; Hakon Hakonarson
Journal:  Nat Med       Date:  2019-07-01       Impact factor: 53.440

2.  Lymphangiography as a Treatment for Refractory Congenital Chylothorax Due to RASopathies: A Report of Two Cases.

Authors:  Naoya Kinota; Hiroshi Kodama; Taiki Moriyama; Junichi Taniguchi; Mitsunari Maruyama; Atsushi Ogasawara; Yasukazu Kako; Kaoru Kobayashi; Haruyuki Takaki; Akio Shibata; Kyoko Minagawa; Yasuhiro Takeshima; Koichiro Yamakado
Journal:  Interv Radiol (Higashimatsuyama)       Date:  2022-01-12

Review 3.  Lymphatic Abnormalities in Noonan Syndrome Spectrum Disorders: A Systematic Review.

Authors:  Julia Sleutjes; Lotte Kleimeier; Erika Leenders; Willemijn Klein; Jos Draaisma
Journal:  Mol Syndromol       Date:  2021-09-10

Review 4.  Refractory thrombocytopenia could be a rare initial presentation of Noonan syndrome in newborn infants: a case report and literature review.

Authors:  Xiujun Tang; Zheng Chen; Xiaoxia Shen; Tian Xie; Xiaohong Wang; Taixiang Liu; Xiaolu Ma
Journal:  BMC Pediatr       Date:  2022-03-17       Impact factor: 2.125

5.  Pathological MAPK activation-mediated lymphatic basement membrane disruption causes lymphangiectasia that is treatable with ravoxertinib.

Authors:  Harish P Janardhan; Karen Dresser; Lloyd Hutchinson; Chinmay M Trivedi
Journal:  JCI Insight       Date:  2022-09-08
  5 in total

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