Sertie AL - Search Results

1

Transcriptome of iPSC-derived neuronal cells reveals a module of co-expressed genes consistently associated with autism spectrum disorder.

Griesi-Oliveira K, Fogo MS, Pinto BGG, Alves AY, Suzuki AM, Morales AG, Ezquina S, Sosa OJ, Sutton GJ, Sunaga-Franze DY, Bueno AP, Seabra G, Sardinha L, Costa SS, Rosenberg C, Zachi EC, Sertie AL, Martins-de-Souza D, Reis EM, Voineagu I, Passos-Bueno MR. Griesi-Oliveira K, et al. Among authors: sertie al. Mol Psychiatry. 2021 May;26(5):1589-1605. doi: 10.1038/s41380-020-0669-9. Epub 2020 Feb 14. Mol Psychiatry. 2021. PMID: 32060413 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

Pfeiffer mutation in an Apert patient: how wide is the spectrum of variability due to mutations in the FGFR2 gene?

Passos-Bueno MR, Sertié AL, Zatz M, Richieri-Costa A. Passos-Bueno MR, et al. Among authors: sertie al. Am J Med Genet. 1997 Aug 8;71(2):243-5. Am J Med Genet. 1997. PMID: 9217234 No abstract available.

4

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.

5

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

6

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.

7

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

8

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.

9

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

10

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

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