A. Richieri‐Costa - Concepedia

Author

A. Richieri‐Costa

Universidade de São Paulo

Also Known As

A Richieri-Costa, A Richieri‐Costa, A. RICHIERI‐COSTA, A. Richieri-Costa, A. Richieri‐Costa, Ant�nio Richieri-Costa

Publications

1.5K

Citations

H-Index

Concepts

All Affiliations

Universidade de São Paulo Universidade Estadual Paulista (Unesp)Hospital do Coração

About

A. Richieri‐Costa is an author at Universidade de São Paulo specializing in medicine, craniofacial anomalies, and genetics.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	11	11	327
2	Arts	1	1	15
3	Education	1	1	16
4	Health Sciences	1	1	15
5	Public Health	1	1	31

A. Richieri‐Costa

Publications

1.1K

Citations

H-Index

Page 1

	Year	Citations
Recurrent 22q11.2 deletion in a sibship suggestive of parental germline mosaicism in velocardiofacial syndrome Paula Sandrin‐Garcia, Cristiana Santos de Macedo, LR Martelli, Clinical Genetics Parental Germline MosaicismGeneticsPathologyRecurrent 22Q11.2Molecular Genetics	2002	84
Clinical findings in patients with <i>GLI2</i> mutations – phenotypic variability CDP Bertolacini, Aline Petrin, A. Richieri‐Costa, Clinical Genetics	2010	64
Description of a new mutation and characterization of FGFR1, FGFR2, and FGFR3 mutations among Brazilian patients with syndromic craniosynostoses. Maria Rita Passos‐Bueno, Andréa L. Sertié, A. Richieri‐Costa, PubMed GeneticsPathologyDisease Gene IdentificationOsteoporosisDominant Mutations	1998	46
CNS midline anomalies in the opitz G/BBB syndrome: Report on 12 Brazilian patients M. L. Guion‐Almeida, A. Richieri‐Costa American Journal of Medical Genetics	1992	41
Short stature, Robin sequence, cleft mandible, pre/postaxial hand anomalies, and clubfoot: A new autosomal recessive syndrome A. Richieri‐Costa, Sonia Cristina Silveira Pereira American Journal of Medical Genetics	1992	39
Tibial aplasia‐ectrodactyly as variant expression of the Gollop‐Wolfgang complex: Report of a Brazilian family A. Richieri‐Costa, Décio Brunoni, José Laredo Filho, American Journal of Medical Genetics	1987	35
Pai syndrome: Report of seven South American patients Maria Leine Guion‐Almeida, Cecília Mellado, Constanza Beltrán, American Journal of Medical Genetics Part A GeneticsGenetic EpidemiologyPathologyReciprocal TranslocationFrontonasal Dysplasia	2007	31
Autosomal recessive short stature, Robin sequence, cleft mandible, pre/postaxial hand anomalies, and clubfeet in male patients A. Richieri‐Costa, Sonia Cristina Silveira Pereira American Journal of Medical Genetics Developmental AnomalyThumb HypoplasiaCleft LipMendelian DisorderGenetic Disorder	1993	31
Autosomal dominant late adult spinal muscular atrophy, type finkel A. Richieri‐Costa, André Rogatko, Ruth Blay Levisky, American Journal of Medical Genetics	1981	30
Autosomal recessive anophthalmia with multiple congenital abnormalities—type Waardenburg A. Richieri‐Costa, Thomaz Rafael Gollop, Priscilla G. Otto, American Journal of Medical Genetics	1983	29

Page 1