Sertié AL - Search Results

1

Rare CACNA1H and RELN variants interact through mTORC1 pathway in oligogenic autism spectrum disorder.

Teles E Silva AL, Glaser T, Griesi-Oliveira K, Corrêa-Velloso J, Wang JYT, da Silva Campos G, Ulrich H, Balan A, Zarrei M, Higginbotham EJ, Scherer SW, Passos-Bueno MR, Sertié AL. Teles E Silva AL, et al. Among authors: sertie al. Transl Psychiatry. 2022 Jun 6;12(1):234. doi: 10.1038/s41398-022-01997-9. Transl Psychiatry. 2022. PMID: 35668055 Free PMC article.

2

A gene which causes severe ocular alterations and occipital encephalocele (Knobloch syndrome) is mapped to 21q22.3.

Sertié AL, Quimby M, Moreira ES, Murray J, Zatz M, Antonarakis SE, Passos-Bueno MR. Sertié AL, et al. Hum Mol Genet. 1996 Jun;5(6):843-7. doi: 10.1093/hmg/5.6.843. Hum Mol Genet. 1996. PMID: 8776601

3

The seventh form of autosomal recessive limb-girdle muscular dystrophy is mapped to 17q11-12.

Moreira ES, Vainzof M, Marie SK, Sertié AL, Zatz M, Passos-Bueno MR. Moreira ES, et al. Among authors: sertie al. Am J Hum Genet. 1997 Jul;61(1):151-9. doi: 10.1086/513889. Am J Hum Genet. 1997. PMID: 9245996 Free PMC article.

4

Description of a new mutation and characterization of FGFR1, FGFR2, and FGFR3 mutations among Brazilian patients with syndromic craniosynostoses.

Passos-Bueno MR, Sertié AL, Richieri-Costa A, Alonso LG, Zatz M, Alonso N, Brunoni D, Ribeiro SF. Passos-Bueno MR, et al. Among authors: sertie al. Am J Med Genet. 1998 Jul 7;78(3):237-41. Am J Med Genet. 1998. PMID: 9677057

5

Presence of the Apert canonical S252W FGFR2 mutation in a patient without severe syndactyly.

Passos-Bueno MR, Richieri-Costa A, Sertié AL, Kneppers A. Passos-Bueno MR, et al. Among authors: sertie al. J Med Genet. 1998 Aug;35(8):677-9. doi: 10.1136/jmg.35.8.677. J Med Genet. 1998. PMID: 9719378 Free PMC article.

6

A new three allele polymorphism at distal 21q22.3, a region relatively devoid of polymorphic markers. Mutations in brief no. 212. Online.

Sertié AL, Brahe C, Passos-Bueno MR. Sertié AL, et al. Hum Mutat. 1999;13(2):170. doi: 10.1002/(SICI)1098-1004(1999)13:2<170::AID-HUMU12>3.0.CO;2-7. Hum Mutat. 1999. PMID: 10094555

7

Linkage analysis in a large Brazilian family with van der Woude syndrome suggests the existence of a susceptibility locus for cleft palate at 17p11.2-11.1.

Sertié AL, Sousa AV, Steman S, Pavanello RC, Passos-Bueno MR. Sertié AL, et al. Am J Hum Genet. 1999 Aug;65(2):433-40. doi: 10.1086/302491. Am J Hum Genet. 1999. PMID: 10417286 Free PMC article.

8

Clinical spectrum of fibroblast growth factor receptor mutations.

Passos-Bueno MR, Wilcox WR, Jabs EW, Sertié AL, Alonso LG, Kitoh H. Passos-Bueno MR, et al. Among authors: sertie al. Hum Mutat. 1999;14(2):115-25. doi: 10.1002/(SICI)1098-1004(1999)14:2<115::AID-HUMU3>3.0.CO;2-2. Hum Mutat. 1999. PMID: 10425034

9

Collagen XVIII, containing an endogenous inhibitor of angiogenesis and tumor growth, plays a critical role in the maintenance of retinal structure and in neural tube closure (Knobloch syndrome).

Sertié AL, Sossi V, Camargo AA, Zatz M, Brahe C, Passos-Bueno MR. Sertié AL, et al. Hum Mol Genet. 2000 Aug 12;9(13):2051-8. doi: 10.1093/hmg/9.13.2051. Hum Mol Genet. 2000. PMID: 10942434

10

A polymorphism in endostatin, an angiogenesis inhibitor, predisposes for the development of prostatic adenocarcinoma.

Iughetti P, Suzuki O, Godoi PH, Alves VA, Sertié AL, Zorick T, Soares F, Camargo A, Moreira ES, di Loreto C, Moreira-Filho CA, Simpson A, Oliva G, Passos-Bueno MR. Iughetti P, et al. Among authors: sertie al. Cancer Res. 2001 Oct 15;61(20):7375-8. Cancer Res. 2001. PMID: 11606364

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