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Longer titles found: Noonan syndrome with multiple lentigines (view)

searching for noonan syndrome 17 found (109 total)

alternate case: Noonan syndrome

PTPN7 (1,096 words) [view diff] exact match in snippet view article find links to article

in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome". Nat. Genet. 29 (4): 465–8. doi:10.1038/ng772. PMID 11704759. S2CID 14627986
Germline mosaicism (1,409 words) [view diff] exact match in snippet view article find links to article
two healthy unrelated parents and three offspring—including two with Noonan syndrome, a rare autosomal dominant disorder with varying expression and genetic
60S ribosomal protein L6 (1,058 words) [view diff] exact match in snippet view article find links to article
(2000). "The human ribosomal protein L6 gene in a critical region for Noonan syndrome". J. Hum. Genet. 45 (5): 290–3. doi:10.1007/s100380070018. PMID 11043511
DTX1 (667 words) [view diff] exact match in snippet view article find links to article
"Chromosomal localization, genomic characterization, and mapping to the Noonan syndrome critical region of the human Deltex (DTX1) gene". Human Genetics. 107
Palinopsia (1,323 words) [view diff] exact match in snippet view article find links to article
Rosen, C (Jan–Mar 1999). "Palinopsia with bacterial brain abscess and Noonan syndrome". Alaska Medicine. 41 (1): 3–7. PMID 10224677. Hayashi, R; Shimizu
MAP2K1 (1,513 words) [view diff] exact match in snippet view article find links to article
4161/cc.5.14.2981. PMID 16861903. GeneReviews/NCBI/NIH/UW entry on Noonan syndrome GeneReviews/NCBI/NIH/UW entry on Cardiofaciocutaneous Syndrome Biology
Neuroblastoma RAS viral oncogene homolog (1,196 words) [view diff] exact match in snippet view article find links to article
mutation". EMBO J. 15 (10): 2442–51. doi:10.1002/j.1460-2075.1996.tb00602.x. PMC 450176. PMID 8665852. GeneReviews/NCBI/NIH/UW entry on Noonan syndrome v t e
PAG1 (651 words) [view diff] exact match in snippet view article find links to article
(January 2007). "Germline gain-of-function mutations in SOS1 cause Noonan syndrome". Nature Genetics. 39 (1): 70–4. doi:10.1038/ng1926. PMID 17143285
Hakon Hakonarson (311 words) [view diff] case mismatch in snippet view article find links to article
"CHOP Researchers Reverse Severe Lymphatic Disorder in Patient with Noonan Syndrome by Targeting Genetic Pathway". "MDGN: neuroFix Acquisition Could Be
EPS8 (1,480 words) [view diff] exact match in snippet view article find links to article
analysis, and intragenic polymorphism identification in candidate Noonan syndrome genes MYL2, DCN, EPS8, and RPL6". J. Med. Genet. 37 (11): 884–6. doi:10
List of OMIM disorder codes (18,861 words) [view diff] exact match in snippet view article find links to article
PIK3CA Noonan syndrome 1; 163950; PTPN11 Noonan syndrome 3; 609942; KRAS Noonan syndrome 4; 610733; SOS1 Noonan syndrome 5; 611553; RAF1 Noonan syndrome 6;
Growth hormone (6,155 words) [view diff] case mismatch in snippet view article find links to article
S2CID 40503492. Binder G, Wittekindt N, Ranke MB (February 2007). Noonan Syndrome: Genetics and Responsiveness to Growth Hormone Therapy. Horm Res. 67
CBL (gene) (3,758 words) [view diff] case mismatch in snippet view article
PMID 11826757. Quips article describing CBL function at PDBe OMIM entries on NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA and
The Traveling Awareness Bears (678 words) [view diff] exact match in snippet view article find links to article
Mitochondrial disease, mother sensory neuropathy, Neurofibromatosis, Noonan syndrome, Osteogenisis Imperecta, stroke, Perthes disease, Pierre-Robin syndrome
BRAF (gene) (5,154 words) [view diff] case mismatch in snippet view article
PMC 2360215. PMID 17179987. Allanson JE, Roberts AE (8 August 2019). "Noonan Syndrome". In Pagon RA, Bird TD, Dolan CR, et al. (eds.). GeneReviews [Internet]
MRAS (2,574 words) [view diff] exact match in snippet view article find links to article
(January 2007). "Germline gain-of-function mutations in SOS1 cause Noonan syndrome". Nature Genetics. 39 (1): 70–4. doi:10.1038/ng1926. PMID 17143285
Coiled-coil domain containing 42B (2,149 words) [view diff] exact match in snippet view article find links to article
dysplasia. According to OMIM search chromosome 12 (12q24.1) is linked Noonan syndrome 1 that is caused by heterozygote mutation in PTPN11 gene product, SH-PTP2