Lista de obras - C Graziadio - Dominio Público Uruguay

Additional features in a new case of a girl presenting brachyphalangy, polydactyly and tibial aplasia/hypoplasia

artículo científico publicado en 2009

Association of microcephaly and cafe-au-lait spots in a patient with ring chromosome 12 syndrome.

artículo científico publicado en 2005

Blepharophimosis-ptosis-epicanthus inversus syndrome

artículo científico publicado en 2011

Branchio-oculo-facial syndrome (BOFS) and congenital heart defects

artículo científico publicado en 2009

Cerebello-trigeminal-dermal dysplasia (Gómez-López-Hernández syndrome): description of three new cases and review.

artículo científico publicado en 1997

Cleft lip/palate and CDH1/E-cadherin mutations in families with hereditary diffuse gastric cancer

artículo científico publicado en 2005

Clinical features and prognosis of a sample of patients with trisomy 13 (Patau syndrome) from Brazil

artículo científico publicado en 2013

Combined chemotherapy and teratogenicity.

artículo científico publicado en 2005

Cytogenetic profile of patients with Down syndrome in southern Brazil

artículo científico publicado en 2014

Gómez-López-Hernández syndrome in a child born to consanguineous parents: new evidence for an autosomal-recessive pattern of inheritance?

artículo científico publicado en 2014

Interstitial deletion of 7q31.32 → q33 secondary to a paracentric inversion of a maternal chromosome 7.

artículo científico publicado en 2010

Inv dup del(4)(:p13-->p16.3::p16.3-->qter) in a girl without typical manifestations of Wolf-Hirschhorn syndrome

artículo científico publicado en 2009

Isolated 3-methylcrotonyl-coenzyme A carboxylase deficiency in a child with metabolic stroke

scientific article published on 01 February 2006

Limb abnormalities on trisomy 18: evidence for early diagnosis ⬇️

artículo científico publicado el 22 de septiembre de 2012

Molecular analysis of connexin26 asparagine14 mutations associated with syndromic skin phenotypes.

artículo científico publicado en 2011

New report of a familial case of Moebius syndrome presenting skeletal findings

artículo científico publicado en 2010

New report of two patients with mosaic trisomy 9 presenting unusual features and longer survival ⬇️

artículo científico publicado el 1 de diciembre de 2011

Omphalocele-exstrophy-imperforate anus-spinal defects (OEIS) complex in a child with nail-patella syndrome

artículo científico publicado en 2010

Poland syndrome associated with an aberrant subclavian artery and vascular abnormalities of the retina in a child exposed to misoprostol during pregnancy.

artículo científico publicado en 2007

Richieri-Costa and Pereira form of acrofacial dysostosis: first description of an adult with mesomelic shortness of the lower limbs

scientific article published on 01 December 2009

Screening for 22q11 deletion syndrome among patients with congenital heart defects

artículo científico publicado en 2014

Short-term follow-up of a Brazilian patient with Cantú syndrome

artículo científico publicado en 2011

The NMD mRNA surveillance pathway downregulates aberrant E-cadherin transcripts in gastric cancer cells and in CDH1 mutation carriers

artículo científico publicado en 2008

Trisomy 12p syndrome secondary to a balanced familial translocation.

artículo científico publicado en 2010

Trisomy 13 (Patau syndrome) and congenital heart defects.

artículo científico publicado en 2013

Trisomy 13 (Patau syndrome) and craniosynostosis

artículo científico publicado en 2011

Trisomy 18: experience of a reference hospital from the south of Brazil

artículo científico publicado en 2011

Trisomy 18: frequency, types, and prognosis of congenital heart defects in a Brazilian cohort

scientific article published on 27 July 2012

[Amenorrhea and X chromosome abnormalities]

artículo científico publicado en 2008

[Primary amenorrhea and XY karyotype: identifying patients in risk]

artículo científico publicado en 2008

Lista de obras de C Graziadio

Additional features in a new case of a girl presenting brachyphalangy, polydactyly and tibial aplasia/hypoplasia

Association of microcephaly and cafe-au-lait spots in a patient with ring chromosome 12 syndrome.

Blepharophimosis-ptosis-epicanthus inversus syndrome

Branchio-oculo-facial syndrome (BOFS) and congenital heart defects

Cerebello-trigeminal-dermal dysplasia (Gómez-López-Hernández syndrome): description of three new cases and review.

Cleft lip/palate and CDH1/E-cadherin mutations in families with hereditary diffuse gastric cancer

Clinical features and prognosis of a sample of patients with trisomy 13 (Patau syndrome) from Brazil

Combined chemotherapy and teratogenicity.

Cytogenetic profile of patients with Down syndrome in southern Brazil

Gómez-López-Hernández syndrome in a child born to consanguineous parents: new evidence for an autosomal-recessive pattern of inheritance?

Interstitial deletion of 7q31.32 → q33 secondary to a paracentric inversion of a maternal chromosome 7.

Inv dup del(4)(:p13-->p16.3::p16.3-->qter) in a girl without typical manifestations of Wolf-Hirschhorn syndrome

Isolated 3-methylcrotonyl-coenzyme A carboxylase deficiency in a child with metabolic stroke

Limb abnormalities on trisomy 18: evidence for early diagnosis ⬇️

Molecular analysis of connexin26 asparagine14 mutations associated with syndromic skin phenotypes.

New report of a familial case of Moebius syndrome presenting skeletal findings

New report of two patients with mosaic trisomy 9 presenting unusual features and longer survival ⬇️

Omphalocele-exstrophy-imperforate anus-spinal defects (OEIS) complex in a child with nail-patella syndrome

Poland syndrome associated with an aberrant subclavian artery and vascular abnormalities of the retina in a child exposed to misoprostol during pregnancy.

Richieri-Costa and Pereira form of acrofacial dysostosis: first description of an adult with mesomelic shortness of the lower limbs

Screening for 22q11 deletion syndrome among patients with congenital heart defects

Short-term follow-up of a Brazilian patient with Cantú syndrome

The NMD mRNA surveillance pathway downregulates aberrant E-cadherin transcripts in gastric cancer cells and in CDH1 mutation carriers

Trisomy 12p syndrome secondary to a balanced familial translocation.

Trisomy 13 (Patau syndrome) and congenital heart defects.

Trisomy 13 (Patau syndrome) and craniosynostosis

Trisomy 18: experience of a reference hospital from the south of Brazil

Trisomy 18: frequency, types, and prognosis of congenital heart defects in a Brazilian cohort

[Amenorrhea and X chromosome abnormalities]

[Primary amenorrhea and XY karyotype: identifying patients in risk]