H. Santos

发表

Molecular characterization of a familial translocation implicates disruption of HDAC9 and possible position effect on TGFbeta2 in the pathogenesis of Peters' anomaly.

D. David, M. Boavida, J. Cardoso, 2003, Genomics.

Brachydactyly type B: linkage to chromosome 9q22 and evidence for genetic heterogeneity.

I. Temple, R. Gibbons, J. Loughlin, 1999, American journal of human genetics.

Identification and characterization of the tuberous sclerosis gene on chromosome 16

S. Thomas, S. Verhoef, B. Janssen, 1993, Cell.

Chromosome 5 derived small supernumerary marker: towards a genotype/phenotype correlation of proximal chromosome 5 imbalances

J. Vermeesch, T. Liehr, F. Eggeling, 2011, Journal of Applied Genetics.

Exome sequencing identifies INPPL1 mutations as a cause of opsismodysplasia.

A. Munnich, C. Bole-Feysot, P. Nitschké, 2013, American journal of human genetics.

THE POLYCYSTIC KIDNEY-DISEASE-1 GENE ENCODES A 14-KB TRANSCRIPT AND LIES WITHIN A DUPLICATED REGION ON CHROMOSOME-16

Siep Thomas, S. Verhoef, J. Hughes, 1994 .

Clinical hypochondroplasia in a family caused by a heterozygous double mutation in FGFR3 encoding GLY380LYS

A. Wilkie, H. Santos, H. Fernandes, 2007, American journal of medical genetics. Part A.

Identification and characterization of the tuberous sclerosis gene on chromosome 16

S. Thomas, S. Verhoef, B. Janssen, 1993, Cell.

Molecular screening of ADAMTSL2 gene in 33 patients reveals the genetic heterogeneity of geleophysic dysplasia

A. Munnich, K. Devriendt, R. Hennekam, 2011, Journal of Medical Genetics.

Portuguese case of Smith-McCort syndrome caused by a new mutation in the Dymeclin (FLJ20071) gene.

H. Santos, J. Nunes, H. Fernandes, 2009, Clinical dysmorphology.