Mateus HE - Search Results

1

Sequence analysis of the CDKN1B gene in patients with premature ovarian failure reveals a novel mutation potentially related to the phenotype.

Ojeda D, Lakhal B, Fonseca DJ, Braham R, Landolsi H, Mateus HE, Restrepo CM, Elghezal H, Saâd A, Laissue P. Ojeda D, et al. Among authors: mateus he. Fertil Steril. 2011 Jun 30;95(8):2658-60.e1. doi: 10.1016/j.fertnstert.2011.04.045. Epub 2011 May 14. Fertil Steril. 2011. PMID: 21575944 Free article.

2

Next generation sequencing in women affected by nonsyndromic premature ovarian failure displays new potential causative genes and mutations.

Fonseca DJ, Patiño LC, Suárez YC, de Jesús Rodríguez A, Mateus HE, Jiménez KM, Ortega-Recalde O, Díaz-Yamal I, Laissue P. Fonseca DJ, et al. Among authors: mateus he. Fertil Steril. 2015 Jul;104(1):154-62.e2. doi: 10.1016/j.fertnstert.2015.04.016. Epub 2015 May 16. Fertil Steril. 2015. PMID: 25989972 Free article.

3

Biallelic HERC1 mutations in a syndromic form of overgrowth and intellectual disability.

Ortega-Recalde O, Beltrán OI, Gálvez JM, Palma-Montero A, Restrepo CM, Mateus HE, Laissue P. Ortega-Recalde O, et al. Among authors: mateus he. Clin Genet. 2015 Oct;88(4):e1-3. doi: 10.1111/cge.12634. Epub 2015 Jul 27. Clin Genet. 2015. PMID: 26138117

4

A homozygous donor splice-site mutation in the meiotic gene MSH4 causes primary ovarian insufficiency.

Carlosama C, Elzaiat M, Patiño LC, Mateus HE, Veitia RA, Laissue P. Carlosama C, et al. Among authors: mateus he. Hum Mol Genet. 2017 Aug 15;26(16):3161-3166. doi: 10.1093/hmg/ddx199. Hum Mol Genet. 2017. PMID: 28541421

5

A novel familial case of diffuse leukodystrophy related to NDUFV1 compound heterozygous mutations.

Ortega-Recalde O, Fonseca DJ, Patiño LC, Atuesta JJ, Rivera-Nieto C, Restrepo CM, Mateus HE, van der Knaap MS, Laissue P. Ortega-Recalde O, et al. Among authors: mateus he. Mitochondrion. 2013 Nov;13(6):749-54. doi: 10.1016/j.mito.2013.03.010. Epub 2013 Apr 4. Mitochondrion. 2013. PMID: 23562761

6

Sequence analysis of the ADRA2A coding region in children affected by attention deficit hyperactivity disorder.

Castro T, Mateus HE, Fonseca DJ, Forero D, Restrepo CM, Talero C, Vélez A, Laissue P. Castro T, et al. Among authors: mateus he. Neurol Sci. 2013 Dec;34(12):2219-22. doi: 10.1007/s10072-013-1569-4. Epub 2013 Nov 1. Neurol Sci. 2013. PMID: 24178896

7

Evidence of association between SNAP25 gene and attention deficit hyperactivity disorder in a Latin American sample.

Gálvez JM, Forero DA, Fonseca DJ, Mateus HE, Talero-Gutierrez C, Velez-van-Meerbeke A. Gálvez JM, et al. Among authors: mateus he. Atten Defic Hyperact Disord. 2014 Mar;6(1):19-23. doi: 10.1007/s12402-013-0123-9. Epub 2013 Dec 23. Atten Defic Hyperact Disord. 2014. PMID: 24362847

8

Mutant GNLY is linked to Stevens-Johnson syndrome and toxic epidermal necrolysis.

Fonseca DJ, Caro LA, Sierra-Díaz DC, Serrano-Reyes C, Londoño O, Suárez YC, Mateus HE, Bolívar-Salazar D, Ramírez AF, de-la-Torre A, Laissue P. Fonseca DJ, et al. Among authors: mateus he. Hum Genet. 2019 Dec;138(11-12):1267-1274. doi: 10.1007/s00439-019-02066-w. Epub 2019 Oct 14. Hum Genet. 2019. PMID: 31642954

9

Identification and Functional Characterization of GAA Mutations in Colombian Patients Affected by Pompe Disease.

Niño MY, Mateus HE, Fonseca DJ, Kroos MA, Ospina SY, Mejía JF, Uribe JA, Reuser AJ, Laissue P. Niño MY, et al. Among authors: mateus he. JIMD Rep. 2013;7:39-48. doi: 10.1007/8904_2012_138. Epub 2012 Apr 19. JIMD Rep. 2013. PMID: 23430493 Free PMC article.

10

[Analysis of microdeletions in 22q11 in Colombian patients with congenital heart disease].

Salazar M, Villalba G, Mateus H, Villegas V, Fonseca D, Núñez F, Caicedo V, Pachón S, Bernal JE. Salazar M, et al. Invest Clin. 2011 Dec;52(4):334-43. Invest Clin. 2011. PMID: 22523843 Spanish.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

17 results

Search Page