نتائج البحث

Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome.

• Authors : Tartaglia M; Department of Pediatrics, Mount Sinai School of Medicine, New York, New York 10029, USA. ; Mehler EL

Subjects: Mutation, Missense*; Noonan Syndrome/Noonan Syndrome/Noonan Syndrome/*genetics ; Protein Tyrosine Phosphatases/Protein Tyrosine Phosphatases/Protein Tyrosine Phosphatases/*genetics

• Source: Nature genetics [Nat Genet] 2001 Dec; Vol. 29 (4), pp. 465-8.Publisher: Nature Pub. Co Country of Publication: United States NLM ID: 9216904 Publication Model: Print Cited Medium: Print ISSN: 1061-4036

تفاصيل العنوان

Molecular and clinical studies in 107 Noonan syndrome affected individuals with PTPN11 mutations.

• Authors : Athota JP; Molecular Genetics, Centre for Human Genetics, Bengaluru, 560100, India.; Bhat M

Subjects: Polymorphism, Single Nucleotide*; Noonan Syndrome/Noonan Syndrome/Noonan Syndrome/*genetics ; Protein Tyrosine Phosphatase, Non-Receptor Type 11/Protein Tyrosine Phosphatase, Non-Receptor Type 11/Protein Tyrosine Phosphatase, Non-Receptor Type 11/*genetics

• Source: BMC medical genetics [BMC Med Genet] 2020 Mar 12; Vol. 21 (1), pp. 50. Date of Electronic Publication: 2020 Mar 12.Publisher: BioMed Central Country of Publication: England NLM ID: 100968552 Publication Model: Electronic Cited Medium: Internet ISSN: 1471-2350

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Molecular and clinical studies in 107 Noonan syndrome affected individuals with PTPN11 mutations

• Authors : Jeevana Praharsha Athota; Meenakshi Bhat; Sheela Nampoothiri

Subjects: Noonan syndrome; PTPN11; Mutational analysis

• Source: BMC Medical Genetics, Vol 21, Iss 1, Pp 1-10 (2020)

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Mutational analysis of the PTPN11 gene in Egyptian patients with Noonan syndrome

• Authors : Mona L. Essawi; Manal F. Ismail; Hanan H. Afifi

Subjects: Egyptian patients; mutational analysis; Noonan syndrome

• Source: Journal of the Formosan Medical Association, Vol 112, Iss 11, Pp 707-712 (2013)

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Mutational Analysis of PTPN11 Gene in Taiwanese Children with Noonan Syndrome

• Authors : Chia-Sui Hung; Ju-Li Lin; Yann-Jinn Lee

Subjects: mutation analysis; Noonan syndrome; PTPN11

• Source: Journal of the Formosan Medical Association, Vol 106, Iss 2, Pp 169-172 (2007)

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Functional analysis of PTPN11/SHP-2 mutants identified in Noonan syndrome and childhood leukemia.

• Authors : Tetsuya Niihori¹; Yoko Aoki¹ ; Hirofumi Ohashi²

• Source: Journal of Human Genetics. Apr2005, Vol. 50 Issue 4, p192-202. 11p.

تفاصيل العنوان

Regulation of apoptosis in HL-1 cardiomyocytes by phosphorylation of the receptor tyrosine kinase EphA2 and protection by lithocholic acid.

• Authors : Jehle, J¹; Staudacher, I¹; Wiedmann, F¹

• Source: British Journal of Pharmacology. Dec2012, Vol. 167 Issue 7, p1563-1572. 10p. 1 Diagram, 4 Graphs.

تفاصيل العنوان

Spectrum of mutations in PTPN11 and genotype-phenotype correlation in 96 patients with Noonan syndrome and five patients with cardio-facio-cutaneous syndrome.

• Authors : Musante, Luciana¹; Kehl, Hans G²; Majewski, Frank³

• Source: European Journal of Human Genetics. Feb2003, Vol. 11 Issue 2, p201. 6p.

تفاصيل العنوان

Lethal proliferation of erythroid precursors in a neonate with a germline PTPN11 mutation.

• Authors : Kratz, Christian Peter^1,2 ; Nathrath, Michaela³; Freisinger, Peter³

• Source: European Journal of Pediatrics. Mar2006, Vol. 165 Issue 3, p182-185. 4p. 1 Diagram.

تفاصيل العنوان

Noonan syndrome.

• Authors : van der Burgt I; Department of Human Genetics, University Medical Centre st Radboud, PO Box 9101, 6500 HB Nijmegen, The Netherlands.

Subjects: Noonan Syndrome/Noonan Syndrome/Noonan Syndrome/*diagnosis ; Noonan Syndrome/Noonan Syndrome/Noonan Syndrome/*therapy; Adolescent

• Source: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2007 Jan 14; Vol. 2, pp. 4. Date of Electronic Publication: 2007 Jan 14.Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172

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