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1

Craniofrontonasal syndrome: Study of 41 patients

Saavedra, Dolores, Richieri-Costa, Antonio, Guion-Almeida, Maria Leine, Cohen, M. Michael

Journal:

American Journal of Medical Genetics

Year:

1996

File:

PDF, 542 KB

1996

2

A newly recognized syndrome of Marfanoid habitus; long face; hypotelorism; long, thin nose; long, thin hands and feet; and a specific pattern of language and learning disabilities

Célia M. Giacheti, Sthella Zanchetta, Elizandra Maranhe, Tatiana V. Cassab, Dagma V. Abramides, Deise H. Souza, Luciana P.M. De-Vitto, Antonio Richieri-Costa

Journal:

American Journal of Medical Genetics Part A

Year:

2007

Language:

english

File:

PDF, 159 KB

english, 2007

3

Pfeiffer mutation in an apert patient: How wide is the spectrum of variability due to mutations in the FGFR2 gene?

Passos-Bueno, Maria Rita, Sertié, Andréa L., Zatz, Mayana, Richieri-Costa, Antonio

Journal:

American Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 785 KB

english, 1997

4

Short stature, Robin sequence, cleft mandible, pre/postaxial hand anomalies, and clubfoot: Another affected Brazilian patient born to consanguineous parents

Richieri-Costa, A., Brandão-Almeida, I. L.

Journal:

American Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 2.09 MB

english, 1997

5

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, Antonio Richieri-Costa, Luís G. Alonso, Mayana Zatz, Nivaldo Alonso, Décio Brunoni, Sandra F.M. Ribeiro

Journal:

American Journal of Medical Genetics Part A

Year:

1998

Language:

english

File:

PDF, 101 KB

english, 1998

6

Word-finding difficulties, verbal paraphasias, and verbal dyspraxia in ten individuals with fragile x syndrome

Dr. Mauro Spinelli, Ana Clelia De Oliveira Rocha, Celia Maria Giacheti, A. Richieri-Costa

Journal:

American Journal of Medical Genetics Part A

Year:

1995

Language:

english

File:

PDF, 494 KB

english, 1995

7

Newly recognized overgrowth syndrome with macrosomia, macrocrania, hyperostosis of the cranial vault, mental deficiency, seizures, poor motor control, and orofacial dyspraxia

Luciana Paula Maximino DeVitto, Dagma Venturni Marques Abramides, Antonio Richieri-Costa

Journal:

American Journal of Medical Genetics Part A

Year:

2005

Language:

english

File:

PDF, 87 KB

english, 2005

8

Language skills and neuropsychological performance in patients with SHH mutations and a holoprosencephaly-like phenotype

Giselda Santiago, Dagma Venturini Marques Abramides, Luciana Paula Maximino De-Vitto, Lucilene Arilho Ribeiro, Silvio Garcia Meira Jr, Antonio Richieri-Costa

Journal:

American Journal of Medical Genetics Part A

Year:

2006

Language:

english

File:

PDF, 112 KB

english, 2006

9

Identification of a microdeletion at the 7q33-q35 disrupting the CNTNAP2 gene in a Brazilian stuttering case

Aline L. Petrin, Célia M. Giacheti, Luciana P. Maximino, Dagma V. M. Abramides, Sthella Zanchetta, Natalia F. Rossi, Antônio Richieri-Costa, Jeffrey C. Murray

Journal:

American Journal of Medical Genetics Part A

Year:

2010

Language:

english

File:

PDF, 479 KB

english, 2010

10

Cerebrofaciothoracic syndrome

Guion-Almeida, Maria Leine, Richieri-Costa, Antonio, Saavedra, Dolores, Cohen, M. Michael

Journal:

American Journal of Medical Genetics

Year:

1996

File:

PDF, 217 KB

1996

11

New autosomal recessive syndrome of progressive sensorineural hearing loss and cataracts: Report on two Brazilian patients

De Vitto, L. P. M., Costa, O. A., Bevilaqua, M. C., Passerotti, S., Richieri-Costa, A.

Journal:

American Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 718 KB

english, 1997

12

Multiple congenital anomalies syndrome: Growth and mental retardation, microcephaly, preauricular skin tags, cleft palate, camptodactyly, and distal limb anomalies. Report on two unrelated Brazilian patients

Guion-Almeida, Maria Leine, Zechi-Ceide, Roseli Maria, Richieri-Costa, Antonio

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 450 KB

english, 1999

13

New syndrome of growth and mental retardation, structural anomalies of the central nervous system, and first branchial arch, anophthalmia, heminasal a/hypoplasia, and atypical clefting: Report on four Brazilian patients

Guion-Almeida, M. L., Richieri-Costa, A.

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 718 KB

english, 1999

14

“New” autosomal-dominant infantile sensorineural non-progressive high-frequency hearing loss: Report on a Brazilian family.

Sthella Zanchetta, Kouzaburo Ohara, Patricia T. Rodrigues, Ester L.L. Carvalho, Antonio Richieri-Costa

Journal:

American Journal of Medical Genetics Part A

Year:

2000

Language:

english

File:

PDF, 269 KB

english, 2000

15

High mutation detection rate in TCOF1 among Treacher Collins syndrome patients reveals clustering of mutations and 16 novel pathogenic changes

Alessandra Splendore, Elias O. Silva, Luís G. Alonso, Antônio Richieri-Costa, Nivaldo Alonso, Alberto Rosa, Gerson Carakushanky, Denise P. Cavalcanti, Décio Brunoni, Maria Rita Passos-Bueno

Journal:

Year:

2000

Language:

english

File:

PDF, 242 KB

english, 2000

16

Autosomal dominant late adult spinal muscular atrophy, type finkel

Dr. A. Richieri-Costa, A. Rogatko, R. Levisky, N. Finkel, O. Frota-Pessoa, John M. Opitz

Journal:

American Journal of Medical Genetics Part A

Year:

1981

Language:

english

File:

PDF, 518 KB

english, 1981

17

Syndrome of acrofacial dysostosis, cleft lip/palate, and triphalangeal thumb in a brazilian family

A. Richieri-Costa, Thomaz R. Gollop, G. M. D. D. Colletto, John M. Opitz

Journal:

American Journal of Medical Genetics Part A

Year:

1983

Language:

english

File:

PDF, 290 KB

english, 1983

18

Autosomal recessive anophthalmia with multiple congenital abnormalities—type Waardenburg

Dr. A. Richieri-Costa, T. R. Gollop, P. G. Otto, John M. Opitz

Journal:

American Journal of Medical Genetics Part A

Year:

1983

Language:

english

File:

PDF, 547 KB

english, 1983

19

Variable expressivity of the acheiropodia gene

Angela Grimaldi, D. Masiero, A. Richieri-Costa, Dr. A. Freire-Maia, J. M. Opitz

Journal:

American Journal of Medical Genetics Part A

Year:

1983

Language:

english

File:

PDF, 162 KB

english, 1983

20

Duplication of distal 17q: Report of an observation

Nadyr F. Naccache, Angela M. Vianna-Morgante, A. Richieri-Costa, John M. Opitz

Journal:

American Journal of Medical Genetics Part A

Year:

1984

Language:

english

File:

PDF, 307 KB

english, 1984

21

A previously undescribed autosomal recessive multiple congenital anomalies/mental retardation (MCA/MR) syndrome with fronto-nasal dysostosis, cleft lip/palate, limb hypoplasia, and postaxial poly-syndactyly: Acro-fronto-facio-nasal dysostosis syndrome

A. Richieri-Costa, G. M. D. D. Colletto, T. R. Gollop, D. Masiero, John M. Opitz, James F. Reynolds

Journal:

American Journal of Medical Genetics Part A

Year:

1985

Language:

english

File:

PDF, 505 KB

english, 1985

22

Unusual type of brachydactyly associated with short stature and facial anomalies. A new syndrome?

A. Richieri-Costa, G. M. D. D. Colletto, P. A. Otto, John M. Opitz, James F. Reynolds

Journal:

American Journal of Medical Genetics Part A

Year:

1985

Language:

english

File:

PDF, 350 KB

english, 1985

23

Ulnar ray A/hypoplasia. Evidence for a developmental field defect on the basis of genetic heterogeneity. Report of three Brazilian families

A. Richieri-Costa, John M. Opitz, James F. Reynolds

Journal:

American Journal of Medical Genetics Part A

Year:

1986

Language:

english

File:

PDF, 577 KB

english, 1986

24

FG syndrome in a Brazilian child with additional previously unreported signs

A. Richieri-Costa, John M. Opitz, James F. Reynolds

Journal:

American Journal of Medical Genetics Part A

Year:

1986

Language:

english

File:

PDF, 416 KB

english, 1986

25

Tibial hemimelia-cleft lip/palate in a Brazilan child born to consanguineous parents

Dr. A. Richieri-Costa, John M. Opitz, James F. Reynolds

Journal:

American Journal of Medical Genetics Part A

Year:

1987

Language:

english

File:

PDF, 303 KB

english, 1987

26

Tibial aplasia-ectrodactyly as variant expression of the Gollop-Wolfgang complex: Report of a Brazilian family

A. Richieri-Costa, Decio Brunoni, José Laredo Filho, Silvana Kasinski, John M. Opitz, James F. Reynolds

Journal:

American Journal of Medical Genetics Part A

Year:

1987

Language:

english

File:

PDF, 605 KB

english, 1987

27

Short stature, abnormal ears, monodactylous tetraectrodactyly, cleft palate in a Brazilian boy

A. Richieri-Costa, E. de Miranda, F. Clarke Fraser, James F. Reynolds

Journal:

American Journal of Medical Genetics Part A

Year:

1988

Language:

english

File:

PDF, 325 KB

english, 1988

28

Autosomal recessive acro-fronto-facio-nasal dysostosis associated with genitourinary anomalies

A. Richieri-Costa, L. Montagnoli, T. Y. Kamiya

Journal:

American Journal of Medical Genetics Part A

Year:

1989

Language:

english

File:

PDF, 413 KB

english, 1989

29

Postaxial acrofacial dysostosis: Report of a Brazilian patient

Dr. A. Richieri-Costa, M. L. Guion-Almeida

Journal:

American Journal of Medical Genetics Part A

Year:

1989

Language:

english

File:

PDF, 291 KB

english, 1989

30

Atypical postaxial acrofacial dysostosis (AFD): Diabetic embryopathy or a new AFD syndrome?

Dr. A. Richieri-Costa, M. L. Guion-Almeida

Journal:

American Journal of Medical Genetics Part A

Year:

1989

Language:

english

File:

PDF, 245 KB

english, 1989

31

Autosomal dominant tibial hemimelia–polysyndactyly-triphalangeal thumbs syndrome: Report of a Brazilian family

A. Richieri-Costa, E. de Miranda, T. Y. Kamiya, D. V. Freire-Maia

Journal:

American Journal of Medical Genetics Part A

Year:

1990

Language:

english

File:

PDF, 695 KB

english, 1990

32

Acheiropodia: Report on four new Brazilian patients

A. C. Fett-Conte, A. Richieri-Costa

Journal:

American Journal of Medical Genetics Part A

Year:

1990

Language:

english

File:

PDF, 362 KB

english, 1990

33

Rapp-Hodgkin syndrome: Report of a Brazilian family

E. O. S. Rodini, J. A. S. Freitas, A. Richieri-Costa

Journal:

American Journal of Medical Genetics Part A

Year:

1990

Language:

english

File:

PDF, 346 KB

english, 1990

34

Autosomal recessive ectodermal dysplasia, cleft lip/palate, mental retardation, and syndactyly: The Zlotogora-Ogur syndrome

Elaine S. O. Rodini, A. Richieri-Costa

Journal:

American Journal of Medical Genetics Part A

Year:

1990

Language:

english

File:

PDF, 373 KB

english, 1990

35

EEC syndrome: Report on 20 new patients, clinical and genetic considerations

Elaine S. O. Rodini, A. Richieri-Costa

Journal:

American Journal of Medical Genetics Part A

Year:

1990

Language:

english

File:

PDF, 1.12 MB

english, 1990

36

Antecubital pterygium and cleft lip/palate presenting as signs of the nail-patella syndrome: Report of a Brazilian family

A. Richieri-Costa

Journal:

American Journal of Medical Genetics Part A

Year:

1991

Language:

english

File:

PDF, 349 KB

english, 1991

37

Ectrodactyly, cleft lip/palate syndrome

Elaine S. O. Rodini, J. A. S. Freitas, A. Richieri-Costa

Journal:

American Journal of Medical Genetics Part A

Year:

1991

Language:

english

File:

PDF, 264 KB

english, 1991

38

Sporadic, idiopathic MCA syndrome with mandibulofacial dysostosis and tibial hemimelia

A. Richieri-Costa, M. L. Guion-Almeida, J. van den Ende

Journal:

American Journal of Medical Genetics Part A

Year:

1991

Language:

english

File:

PDF, 263 KB

english, 1991

39

Ectodermal dysplasia, ectrodactyly, clefting, anophthalmia/microphthalmia, and genitourinary anomalies: Nosology of Goltz-Gorlin syndrome versus EEC syndrome

E. S. O. Rodini, A. Nardi, M. L. Guion-Almeida, A. Richieri-Costa

Journal:

American Journal of Medical Genetics Part A

Year:

1992

Language:

english

File:

PDF, 397 KB

english, 1992

40

Autosomal recessive blepharoptosis, cleft lip/palate, dental anomalies, and ectrodactyly

E. S. O. Rodini, A. Richieri-Costa

Journal:

American Journal of Medical Genetics Part A

Year:

1992

Language:

english

File:

PDF, 226 KB

english, 1992

41

Marden-Walker-like syndrome without psychomotor retardation: Report of a Brazilian girl born to consanguineous parents

Jenny J. van den Ende, Yolande van Bever, E. S. O. Rodini, A. Richieri-Costa

Journal:

American Journal of Medical Genetics Part A

Year:

1992

Language:

english

File:

PDF, 269 KB

english, 1992

42

Short stature, mental retardation, eye anomalies, and cleft lip/palate

A. Richieri-Costa, M. L. Guion-Almeida

Journal:

American Journal of Medical Genetics Part A

Year:

1992

Language:

english

File:

PDF, 259 KB

english, 1992

43

Short stature, Robin sequence, cleft mandible, pre/postaxial hand anomalies, and clubfoot: A new autosomal recessive syndrome

A. Richieri-Costa, Sonia Cristina Silveira Pereira

Journal:

American Journal of Medical Genetics Part A

Year:

1992

Language:

english

File:

PDF, 597 KB

english, 1992

44

New syndrome: Mental retardation, microbrachycephaly, hypotelorism, palpebral ptosis, thin/long face, cleft lip, and lumbosacral/pelvic anomalies

A. Richieri-Costa, M. L. Guion-Almeida, A. L. Ramos

Journal:

American Journal of Medical Genetics Part A

Year:

1992

Language:

english

File:

PDF, 423 KB

english, 1992

45

Aarskog syndrome in a brazilian boy born to consanguineous parents

M. L. Guion-Almeida, A. Richieri-Costa

Journal:

American Journal of Medical Genetics Part A

Year:

1992

Language:

english

File:

PDF, 279 KB

english, 1992

46

Callosal agenesis, iris coloboma, and megacolon in a Brazilian boy with Rubinstein-Taybi syndrome

M. L. Guion-Almeida, A. Richieri-Costa

Journal:

American Journal of Medical Genetics Part A

Year:

1992

Language:

english

File:

PDF, 322 KB

english, 1992

47

CNS midline anomalies in the opitz G/BBB syndrome: Report on 12 Brazilian patients

M. L. Guion-Almeida, A. Richieri-Costa

Journal:

American Journal of Medical Genetics Part A

Year:

1992

Language:

english

File:

PDF, 1.10 MB

english, 1992

48

Acrocallosal syndrome: Report of a Brazilian girl

M. L. Guion-Almeida, A. Richieri-Costa

Journal:

American Journal of Medical Genetics Part A

Year:

1992

Language:

english

File:

PDF, 403 KB

english, 1992

49

Reply to Dr. Teebi

Dr. A. Richieri-Costa

Journal:

American Journal of Medical Genetics Part A

Year:

1992

Language:

english

File:

PDF, 42 KB

english, 1992

50

Autosomal recessive cleft lip/palate, ectodermal dysplasia, and minor acral anomalies: Report of a Brazilian family

Antonio Richieri-Costa, Maria Leine Guion-Almeida, Dr. Newton Freire-Maia, Marta Pinheiro

Journal:

American Journal of Medical Genetics Part A

Year:

1992

Language:

english

File:

PDF, 474 KB

english, 1992

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