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List of works by Carla Graziadio

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

scientific article published on 01 July 2009

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

scientific article

Blepharophimosis-ptosis-epicanthus inversus syndrome

scientific article published on 01 June 2011

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

scientific article published on 01 February 2009

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

scientific article published on October 1997

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

scientific article published on 14 April 2005

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

scientific article published on 23 April 2013

Combined chemotherapy and teratogenicity.

scientific article published on September 2005

Cytogenetic profile of patients with Down syndrome in southern Brazil

scientific article published on 01 January 2014

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

scientific article

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

scientific article published on 5 November 2010

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

scientific article published on 01 June 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 ⬇️

scientific article published on September 22, 2012

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

scientific article published on 17 March 2011

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

scientific article published on 01 August 2010

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

scientific article published on December 1, 2011

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

scientific article published on 01 October 2010

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

scientific article

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

scientific article

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

scientific article published on 04 April 2011

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

scientific article

Trisomy 12p syndrome secondary to a balanced familial translocation.

scientific article published in June 2010

Trisomy 13 (Patau syndrome) and congenital heart defects.

scientific article

Trisomy 13 (Patau syndrome) and craniosynostosis

scientific article published on 07 July 2011

Trisomy 18 (Edwards syndrome) and major gastrointestinal malformations ⬇️

scientific article published on 01 January 2013

Trisomy 18 and Neural Tube Defects ⬇️

scientific article published on July 4, 2013

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

scientific article published on 10 June 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]

scientific article published on 01 October 2008

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

scientific article published on 01 November 2008

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