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Salmo Raskin

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Brazil

Physiology

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TOP 3
Luciana Rodrigues Jacy da Silva; Carlos Eugênio Fernandez de Andrade; Maria Isabel Melaragno; Mariana Moysés Oliveira; Mileny Esbravatti Stephano Colovati; Bruno Coprerski; Salmo Raskin; Edmar Zanoteli; Ana Beatriz Alvarez Perez
Spinal muscular atrophy due to a "de novo" 1.3Mb deletion: Implication for genetic counseling.
Jonathan Celli Honório; Salmo Raskin; Edward Araujo Júnior; Rafael Frederico Bruns; Lilian Pereira Ferrari; Luciana Fernandes Gründtner; Luciano Marcondes Machado Nardozza
Diastrophic dysplasia: prenatal diagnosis and review of the literature.
Josiane Souza; Salmo Raskin
Clinical and epidemiological study of orofacial clefts.

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2013: Luciana Rodrigues Jacy da Silva; Carlos Eugênio Fernandez de Andrade; Maria Isabel Melaragno; Mariana Moysés Oliveira; Mileny Esbravatti Stephano Colovati; Bruno Coprerski; Salmo Raskin; Edmar Zanoteli; Ana Beatriz Alvarez Perez
Spinal muscular atrophy due to a "de novo" 1.3Mb deletion: Implication for genetic counseling.
Neuromuscular disorders : NMD 2013;23(5):388-90.
2013: Jonathan Celli Honório; Salmo Raskin; Edward Araujo Júnior; Rafael Frederico Bruns; Lilian Pereira Ferrari; Luciana Fernandes Gründtner; Luciano Marcondes Machado Nardozza
Diastrophic dysplasia: prenatal diagnosis and review of the literature.
São Paulo medical journal = Revista paulista de medicina 2013;131(2):127-32.
2013: Josiane Souza; Salmo Raskin
Clinical and epidemiological study of orofacial clefts.
Jornal de pediatria 2013;89(2):137-44.
2013: Adriana Moro; Mariana Moscovich; Renato P Munhoz; Salmo Raskin; Tetsuo Ashizawa; Torben C Bezerra; Hélio A G Teive
Acute onset of cerebellar ataxia in a spinocerebellar ataxia type 10 patient after use of steroids.
Arquivos de neuro-psiquiatria 2013;71(1):66.
2012: Alice R Gardiner; Michael Hanna; Kailash P Bhatia; Tim Counihan; Russell C Dale; Dimitri M Kullmann; Manju A Kurian; Andrew Lees; Salmo Raskin; Josemir W. Sander; Anthony H Schapira; Susanne A Schneider; Laura Silveira-Moriyama; Sian D Spacey; Maria Stamelou; Hélio A G Teive; Enza Maria Valente; Gurusidheshwar M Wali; Tom Warner; Nicholas W Wood; Henry Houlden
PRRT2 gene mutations: from paroxysmal dyskinesia to episodic ataxia and hemiplegic migraine.
Neurology 2012;79(21):2115-21.
2012: Mariana Moscovich; Renato Puppi Munhoz; Ronald Ranvaud; Salmo Raskin; Tetsuo Ashizawa; Egberto R Barbosa; Margarete de J Carvalho; Andrew J Lees; Jilin Liu; Karen McFarland; Helio A Teive; Laura Silveira-Moriyama
Olfactory impairment in familial ataxias.
Journal of neurology, neurosurgery, and psychiatry 2012;83(10):970-4.
2012: Sheyla Ariêh de Souza Rezende; Arthur Oscar Schelp; Maurício Fernandes; Marjo S van der Knaap; Renato P Munhoz; Salmo Raskin; Hélio A G Teive
Cerebellar ataxia as the first manifestation of Alexander's disease.
Arquivos de neuro-psiquiatria 2012;70(4):309-10.
2012: Hélio A G Teive; Lineu C Werneck; Walter Oleschko Arruda; Iscia Lopes-Cendes; Renato P Munhoz; Salmo Raskin; Tetsuo Ashizawa
Spinocerebellar ataxias: genotype-phenotype correlations in 104 Brazilian families.
Clinics (São Paulo, Brazil) 2012;67(5):443-9.
2011: Hélio A G Teive; Lineu César Werneck; Walter Oleschko Arruda; Renato P Munhoz; Salmo Raskin; Tetsuo Ashizawa
Spinocerebellar ataxia type 10 - A review.
Parkinsonism & related disorders 2011;17(9):655-61.
2011: Fabio Faucz; Egon Frantz; Sergio Antoniuk; Jill A Rosenfeld; VS Sotomaior; Josiane Souza; Aguinaldo Bonalumi Filho; Salmo Raskin
Mosaic partial trisomy 19p12-q13.11 due to a small supernumerary marker chromosome: a locus associated with Asperger syndrome?
American journal of medical genetics. Part A 2011;155A(9):2308-10.
2011: Andrea Duarte Doetzer; Marcos Henrique Bubna; VS Sotomaior; Salmo Raskin
What can be done when asymptomatic patients discover they have Brugada syndrome? A case report of Brugada syndrome.
International journal of cardiology 2011;150(3):e96-7.
2011: Jill A Rosenfeld; Roger A Schultz; Raymond C Tervo; Blake C Ballif; Bassem A Bejjani; Carol L Clericuzio; Tom Cushing; Joanne Milisa Drautz; Marzena Gajecka; Justyna A Karolak; Allen N Lamb; Judith Martin; Dorota M Nowak; Jose A Pitarque; Salmo Raskin; Lisa G Shaffer
Deletions and duplications of developmental pathway genes in 5q31 contribute to abnormal phenotypes.
American journal of medical genetics. Part A 2011;155A(8):1906-16.
2011: Aguinaldo Bonalumi Filho; Josiane Souza; Fábio Rueda Faucz; VS Sotomaior; Barbara Dupont; Frank Bartel; Reycel Rodriguez; Charles E Schwartz; Cindy Skinner; Sarah Alliman; Salmo Raskin
Somatic/gonadal mosaicism in a syndromic form of ectrodactyly, including eye abnormalities, documented through array-based comparative genomic hybridization.
American journal of medical genetics. Part A 2011;155A(5):1152-6.
2011: Hélio A G Teive; Walter Oleschko Arruda; Salmo Raskin; Renato P Munhoz; Jorge A A Zavala; Lineu César Werneck; Tetsuo Ashizawa
Symptom onset of spinocerebellar ataxia type 10 in pregnancy and puerperium.
Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia 2011;18(3):437-8.
2010: Laura Silveira-Moriyama; Renato Pupi Munhoz; Margarete de J Carvalho; Salmo Raskin; Ekaterina Rogaeva; Patricia de C Aguiar; Rodrigo A Bressan; Andre C Felicio; Orlando G P Barsottini; Luiz Augusto F Andrade; Hsin F Chien; Vincenzo Bonifati; Egberto R Barbosa; Helio A Teive; Andrew J Lees
Olfactory heterogeneity in LRRK2 related Parkinsonism.
Movement disorders : official journal of the Movement Disorder Society 2010;25(16):2879-83.
2010: Hélio A G Teive; Renato P Munhoz; Salmo Raskin; Walter Oleschko Arruda; Luciano de Paola; Lineu César Werneck; Tetsuo Ashizawa
Spinocerebellar ataxia type 10: Frequency of epilepsy in a large sample of Brazilian patients.
Movement disorders : official journal of the Movement Disorder Society 2010;25(16):2875-8.
2010: Cesar Luiz Boguszewski; Leila Caroline Bianchet; Salmo Raskin; Luiz M Nomura; Luis Alencar Borba; Teresa Cristina Santos Cavalcanti
Application of genetic testing to define the surgical approach in a sporadic case of multiple endocrine neoplasia type 1.
Arquivos brasileiros de endocrinologia e metabologia 2010;54(8):705-10.
2010: Gisele Moro do Nascimento; Caroline Sampaio Alves Nunes; Paula Fatuch Menegotto; Salmo Raskin; Nádia de Almeida
Cutis laxa: case report.
Anais brasileiros de dermatologia 2010;85(5):684-6.
2010: Judith E Allanson; Axel Bohring; Helmuth-Guenther Dörr; Andreas Dufke; Gabriele Gillessen-Kaesbach; Denise Horn; Rainer König; Christian P Kratz; Kerstin Kutsche; Silke Pauli; Salmo Raskin; Anita Rauch; Anne Turner; Dagmar Wieczorek; Martin Zenker
The face of Noonan syndrome: Does phenotype predict genotype.
American journal of medical genetics. Part A 2010;152A(8):1960-6.
2010: Misti C White; Rui Gao; Weidong Xu; Santi M Mandal; Jung G Lim; Tapas K Hazra; Maki Wakamiya; Sharon F Edwards; Salmo Raskin; Hélio A G Teive; Huda Y Zoghbi; Partha S Sarkar; Tetsuo Ashizawa
Inactivation of hnRNP K by expanded intronic AUUCU repeat induces apoptosis via translocation of PKCdelta to mitochondria in spinocerebellar ataxia 10.
PLoS genetics 2010;6(6):e1000984.
2010: Fabio R Faucz; Denise A S Souza; Marcia Olandoski; Salmo Raskin
CFTR allelic heterogeneity in Brazil: historical and geographical perspectives and implications for screening and counseling for cystic fibrosis in this country.
Journal of human genetics 2010;55(2):71-6.
2009: Renato Puppi Munhoz; Pedro André Kowacs; Marília Grando Sória; Renata Dal-Prá Ducci; Salmo Raskin; Helio Afonso Ghizoni Teive
Catamenial and oral contraceptive-induced exacerbation of chorea in chorea-acanthocytosis: case report.
Movement disorders : official journal of the Movement Disorder Society 2009;24(14):2166-7.
2009: Roseli Maria Zechi-Ceide; Lucilene Arilho Ribeiro; Salmo Raskin; Claudia Danielli Pereira Bertolacini; Maria Leine Guion-Almeida; Antonio Richieri-Costa
Holoprosencephaly, ectrodactyly, and bilateral cleft of lip and palate: exclusion of SHH, TGIF, SIX3, GLI2, TP73L, and DHCR7 as candidate genes.
American journal of medical genetics. Part A 2009;149A(6):1277-9.
2009: Renato P Munhoz; Helio A Teive; Alexandre N Francisco; Salmo Raskin; Ekaterina Rogaeva
Unilateral pallidotomy in a patient with parkinsonism and G2019S LRRK2 mutation.
Movement disorders : official journal of the Movement Disorder Society 2009;24(5):791-2; author reply 792.
2009: Renato P Munhoz; Hélio A Teive; Salmo Raskin; Lineu C Werneck
CTA/CTG expansions at the SCA 8 locus in multiple system atrophy.
Clinical neurology and neurosurgery 2009;111(2):208-10.
2008: Guilherme G Riccioppo Rodrigues; Ruth H Walker; Alexis Brice; Cécile Cazeneuve; Odile Russaouen; Helio A G Teive; Renato Puppi Munhoz; Nilson Becker; Salmo Raskin; Lineu Cesar Werneck; Wilson Marques Junior; Vitor Tumas
Huntington's disease-like 2 in Brazil--report of 4 patients.
Movement disorders : official journal of the Movement Disorder Society 2008;23(15):2244-7.
2008: Hélio A G Teive; Renato P Munhoz; Salmo Raskin; Lineu César Werneck
Spinocerebellar ataxia type 6 in Brazil.
Arquivos de neuro-psiquiatria 2008;66(3B):691-4.
2008: Hélio A G Teive; Renato P Munhoz; Juliano A Muzzio; Rosana H Scola; Cláudia K Kay; Salmo Raskin; Lineu C Werneck; Helene Bruhn
Cerebellar ataxia, myoclonus, cervical lipomas, and MERRF syndrome. Case report.
Movement disorders : official journal of the Movement Disorder Society 2008;23(8):1191-2.
2008: Renato P Munhoz; Yosuke Wakutani; Connie Marras; Hélio A G Teive; Salmo Raskin; Lineu César Werneck; Danielle Moreno; Christine Sato; Anthony E Lang; Ekaterina Rogaeva
The G2019S LRRK2 mutation in Brazilian patients with Parkinson's disease: phenotype in monozygotic twins.
Movement disorders : official journal of the Movement Disorder Society 2008;23(2):290-4.
2008: Salmo Raskin; L Pereira-Ferrari; Francisco Caldeira Reis; F Abreu; P Marostica; Tatiana Rozov; Joselina Cardieri; Norberto Ludwig; Lairton Valentin; Nelson Augusto Rosario-Filho; Eurico Camargo Neto; Eduardo Lewis; Roberto Giugliani; Edna Maria Albuquerque Diniz; Lodercio Culpi; John Atlas Phillip; Ranajit Chakraborty
Incidence of cystic fibrosis in five different states of Brazil as determined by screening of p.F508del, mutation at the CFTR gene in newborns and patients.
Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society 2008;7(1):15-22.
2007: Hélio A G Teive; Walter Oleschko Arruda; Salmo Raskin; Tetsuo Ashizawa; Lineu César Werneck
The history of spinocerebellar ataxia type 10 in Brazil: travels of a gene.
Arquivos de neuro-psiquiatria 2007;65(4A):965-8.
2007: Fabio Faucz; J Gimenez; Maria Dolors Ramos; L Pereira-Ferrari; Xavier Estivill; Salmo Raskin; Teresa Casals; Lodercio Culpi
Cystic fibrosis in a southern Brazilian population: characteristics of 90% of the alleles.
Clinical genetics 2007;72(3):218-23.
2007: Nilson Becker; Renato P Munhoz; Salmo Raskin; Lineu César Werneck; Hélio A G Teive
Non-choreic movement disorders as initial manifestations of Huntington's disease.
Arquivos de neuro-psiquiatria 2007;65(2B):402-5.
2007: Salmo Raskin; Tetsuo Ashizawa; Hélio A G Teive; Walter Oleschko Arruda; Ping Fang; Rui Gao; Misti C White; Lineu César Werneck; Benjamin B Roa
Reduced penetrance in a Brazilian family with spinocerebellar ataxia type 10.
Archives of neurology 2007;64(4):591-4.
2007: Andrea Stachon; Francisco Baptista Assumpção; Salmo Raskin
Rett syndrome: clinical and molecular characterization of two Brazilian patients.
Arquivos de neuro-psiquiatria 2007;65(1):36-40.
2007: Salmo Raskin; Maria-Luiza Petzl-Erler; John A Phillips; L Pereira-Ferrari; Christian Probst; Fabio Faucz; VS Sotomaior; Francisco M Salzano; Lodercio Culpi
Cystic fibrosis gene variability in two southern Brazilian Amerindian populations: analysis of the deltaF508 mutation and the KM19 and XV2C haplotypes.
Human biology 2007;79(1):79-91.
2007: Martin Zenker; Katarina Lehmann; Anna Leana Schulz; Helmut Barth; Dagmar Hansmann; Rainer Koenig; Rudolf Korinthenberg; Martina Kreiss-Nachtsheim; Peter Meinecke; Susanne Morlot; Stefan Mundlos; Anne S Quante; Salmo Raskin; Dirk Schnabel; Lars-Erik Wehner; Christian P Kratz; Denise Horn; Kerstin Kutsche
Expansion of the genotypic and phenotypic spectrum in patients with KRAS germline mutations.
Journal of medical genetics 2007;44(2):131-5.
2006: Renato P Munhoz; Hélio A G Teive; Salmo Raskin; André R Troiano
Atypical parkinsonism and SCA8.
Parkinsonism & related disorders 2006;12(3):191-2.
2006: Renato P Munhoz; Toshitaka Kawarai; Hélio A G Teive; Salmo Raskin; Christine Sato; Yan Liang; Peter St George-Hyslop; Ekaterina Rogaeva
Clinical and genetic study of a Brazilian family with spastic paraplegia (SPG6 locus).
Movement disorders : official journal of the Movement Disorder Society 2006;21(2):279-81.
2005: Naohiro Kurotaki; Joseph J Shen; Mayumi Touyama; Tatsuro Kondoh; Remco Visser; Takao Ozaki; Junji Nishimoto; Takashi Shiihara; Kimiaki Uetake; Yoshio Makita; Naoki Harada; Salmo Raskin; Chester W Brown; Pia Höglund; Nobuhiko Okamoto; James R Lupski
Phenotypic consequences of genetic variation at hemizygous alleles: Sotos syndrome is a contiguous gene syndrome incorporating coagulation factor twelve (FXII) deficiency.
Genetics in medicine : official journal of the American College of Medical Genetics 2005;7(7):479-83.
2005: Ana Paula Trentin; Rosana Herminia Scola; Hélio A G Teive; Salmo Raskin; Francisco Germiniani; Lineu César Werneck
Kennedy's disease phenotype with positive genetic study for Kugelberg-Welander's disease: case report.
Arquivos de neuro-psiquiatria 2005;63(2A):330-1.
2004: Hélio A G Teive; Eduardo R Pereira; Jorge A A Zavala; Marcos Christiano Lange; Luciano de Paola; Salmo Raskin; Lineu César Werneck; T Hamada; J A McGrath
Generalized dystonia and striatal calcifications with lipoid proteinosis.
Neurology 2004;63(11):2168-9.
2004: Marcos Christiano Lange; Viviane Flumignan Zétola; Hélio A G Teive; Rosana Herminia Scola; Ana Paula Trentin; Jorge A A Zavala; Eduardo R Pereira; Salmo Raskin; Lineu César Werneck; Erik A Sistermans
Cerebrotendinous xanthomatosis: report of two Brazilian brothers.
Arquivos de neuro-psiquiatria 2004;62(4):1085-9.
2004: Hélio A G Teive; André R Troiano; Salmo Raskin; Lineu César Werneck
Leber's hereditary optic neuropathy--case report and literature review.
São Paulo medical journal = Revista paulista de medicina 2004;122(6):276-9.
2004: Hélio A G Teive; Benjamin B Roa; Salmo Raskin; Ping Fang; Walter Oleschko Arruda; Y Correa Neto; R Gao; Lineu César Werneck; Tetsuo Ashizawa
Clinical phenotype of Brazilian families with spinocerebellar ataxia 10.
Neurology 2004;63(8):1509-12.
2004: Gabriela Coutinho; Midori Mitui; Catarina Campbell; Beatriz T Costa-Carvalho; Shareef A Nahas; Xia Sun; Yong Huo; Chih-Hung Lai; Yvonne Thorstenson; Robert Tanouye; Salmo Raskin; Chong A Kim; Juan Llerena; Richard A Gatti
Five haplotypes account for fifty-five percent of ATM mutations in Brazilian patients with ataxia telangiectasia: seven new mutations.
American journal of medical genetics. Part A 2004;126A(1):33-40.
2003: J Kamimura; Y Endo; Naohiro Kurotaki; Akira Kinoshita; Noriko Miyake; Osamu Shimokawa; Naoki Harada; Remco Visser; Hirofumi Ohashi; K Miyakawa; J Gerritsen; A M Innes; L Lagace; M Frydman; Nobuhiko Okamoto; R Puttinger; Salmo Raskin; Biserka Resic; Viktor Culic; Koh-ichiro Yoshiura; Tohru Ohta; Tatsuya Kishino; M Ishikawa; Norio Niikawa; Naomichi Matsumoto
Identification of eight novel NSD1 mutations in Sotos syndrome.
Journal of medical genetics 2003;40(11):e126.
2003: Luiz Vicente Ferreira da Silva Filho; Maria Helena de Carvalho Ferreira Bussamra; Cleyde Miriam Aversa Nakaie; Fabíola Villac Adde; Joaquim Carlos Rodrigues; Salmo Raskin; Tatiana Rozov
Cystic fibrosis with normal sweat chloride concentration--case report.
Revista do Hospital das Clínicas 2003;58(5):260-2.
2003: Ebba Lohmann; Magali Periquet; Vincenzo Bonifati; Nicholas W Wood; Giuseppe De Michele; Anne-Marie Bonnet; Valérie Fraix; Emmanuel Broussolle; Martin Horstink; Marie Vidailhet; Patrice Verpillat; Thomas Gasser; David Nicholl; Hélio A G Teive; Salmo Raskin; Olivier Rascol; Alain Destée; Merle Ruberg; Francesca Gasparini; Giuseppe Meco; Yves Agid; Alexandra Durr; Alexis Brice
How much phenotypic variation can be attributed to parkin genotype?
Annals of neurology 2003;54(2):176-85.
2003: Eny Maria Goloni-Bertollo; Andréa Regina Baptista Rossit; João Batista Salomão Junior; Agnes Cristina Fett-Conte; Salmo Raskin
CFTR molecular analysis reveals infrequent allele frequencies in nine cystic fibrosis patients from São Paulo State, Brazil.
Human biology 2003;75(3):393-8.
2003: Magali Periquet; Morwena Latouche; Ebba Lohmann; Nina Rawal; Giuseppe De Michele; Sylvain Ricard; Hélio A G Teive; Valérie Fraix; Marie Vidailhet; David Nicholl; Paolo Barone; Nicholas W Wood; Salmo Raskin; Jean-François Deleuze; Yves Agid; Alexandra Dürr; Alexis Brice
Parkin mutations are frequent in patients with isolated early-onset parkinsonism.
Brain : a journal of neurology 2003;126(Pt 6):1271-8.
2003: Lieve R F Claes; Berten Ceulemans; Dominique Audenaert; Katrien Smets; Ann Löfgren; Jurgen Del-Favero; Sirpa Ala-Mello; Lina Basel-Vanagaite; Barbara Plecko; Salmo Raskin; Paul Thiry; Nicole I Wolf; Christine Van Broeckhoven; Peter De Jonghe
De novo SCN1A mutations are a major cause of severe myoclonic epilepsy of infancy.
Human mutation 2003;21(6):615-21.
2003: Nina Rawal; Magali Periquet; Ebba Lohmann; Christoph B Lücking; Hélio A G Teive; G Ambrosio; Salmo Raskin; Sarah J Lincoln; Nobutaka Hattori; Joao Guimaraes; Martin Horstink; W Dos Santos Bele; E Brousolle; Alain Destée; Yoshikuni Mizuno; Matthew J Farrer; Jean-François Deleuze; Giuseppe De Michele; Yves Agid; Alexandra Dürr; Alexis Brice
New parkin mutations and atypical phenotypes in families with autosomal recessive parkinsonism.
Neurology 2003;60(8):1378-81.
2003: Hsien-Hsiung Lee; Shwu-Fen Chang; Yann-Jinn Lee; Salmo Raskin; Shio-Jean Lin; Mei-Chyn Chao; Fu-Sung Lo; Ching-Yu Lin
Deletion of the C4-CYP21 repeat module leading to the formation of a chimeric CYP21P/CYP21 gene in a 9.3-kb fragment as a cause of steroid 21-hydroxylase deficiency.
Clinical chemistry 2003;49(2):319-22.
2003: Salmo Raskin; Lilian Pereira; Francisco Reis; Nelson A Rosario; Norberto Ludwig; Lairton Valentim; John A Phillips; Bernice Allito; Ruth A Heim; Elaine A Sugarman; Christian M Probst; Fabio Faucz; Lodercio Culpi
High allelic heterogeneity between Afro-Brazilians and Euro-Brazilians impacts cystic fibrosis genetic testing.
Genetic testing 2003;7(3):213-8.
2003: Guangyun Sun; Stephen T McGarvey; Riad Bayoumi; Connie J Mulligan; Ramiro Barrantes; Salmo Raskin; Yixi Zhong; Joshua M Akey; Ranajit Chakraborty; Ranjan Deka
Global genetic variation at nine short tandem repeat loci and implications on forensic genetics.
European journal of human genetics : EJHG 2003;11(1):39-49.
2002: Nina Rawal; Magali Periquet; Alexandra Dürr; Giuseppe De Michele; Vincenzo Bonifati; Hélio A G Teive; Salmo Raskin; Joao Guimaraes; Yves Agid; Alexis Brice
Exclusion of the Nurr1 gene in autosomal recessive Parkinson's disease.
Journal of neurology 2002;249(8):1127-9.
2001: Hélio A G Teive; Salmo Raskin; Fábio M Iwamoto; Francisco Germiniani; M H Baran; Lineu César Werneck; N Allan; E Quagliato; E Leroy; S E Ide; Mihael H Polymeropoulos
The G209A mutation in the alpha-synuclein gene in Brazilian families with Parkinson's disease.
Arquivos de neuro-psiquiatria 2001;59(3-B):722-4.
2001: Rosana Herminia Scola; Lineu César Werneck; Fábio M Iwamoto; LC Ribas; Salmo Raskin; Y Correa Neto
Congenital contractural arachnodactyly with neurogenic muscular atrophy: case report.
Arquivos de neuro-psiquiatria 2001;59(2-A):259-62.
2000: Salmo Raskin; N Allan; Hélio A G Teive; F Cardoso; M S Haddad; G Levi; R Boy; J Lerena Junior; VS Sotomaior; M Janzen-Dück; L B Jardim; F R Fellander; L A F Andrade
Huntington disease: DNA analysis in Brazilian population.
Arquivos de neuro-psiquiatria 2000;58(4):977-85.
1999: Daniel Benzecry Almeida; Walter Oleschko Arruda; Ricardo Ramina; Ari A Pedrozo; Salmo Raskin
[Migraine with aphasia. Report of a family].
Arquivos de neuro-psiquiatria 1999;57(1):111-3.
1999: Salmo Raskin; John A Phillips; G Kaplan; M McClure; Cindy L Vnencak-Jones; Tatiana Rozov; JM Cardieri; P Marostica; F Abreu; R Giugliani; Francisco Reis; Nelson A Rosario; Norberto Ludwig; Lilian Pereira; Fabio Faucz; J Gabardo; Lodercio Culpi
Geographic heterogeneity of 4 common worldwide cystic fibrosis non-DF508 mutations in Brazil.
Human biology 1999;71(1):111-21.
1998: Viviane H Flumignan Zétola; Rosana Herminia Scola; Salmo Raskin; D M Prevendello; Y Correa Neto; Lineu César Werneck
Rigid spine syndrome. Case report.
Arquivos de neuro-psiquiatria 1998;56(4):812-8.
1997: Salmo Raskin; John A Phillips; MR Krishnamani; Cindy L Vnencak-Jones; R A Parker; Tatiana Rozov; JM Cardieri; P Marostica; F Abreu; R Giugliani; Francisco Reis; Nelson A Rosario; Norberto Ludwig; Lodercio Culpi
Cystic fibrosis in the Brazilian population: DF508 mutation and KM-19/XV-2C haplotype distribution.
Human biology 1997;69(4):499-508.
1997: Salmo Raskin; J A Philips; MR Krishnamani; Cindy L Vnencak-Jones; R A Parker; E Dawson; Tatiana Rozov; JM Cardieri; P Marostica; F Abreu; R Giugliani; Francisco Reis; Nelson A Rosario; Norberto Ludwig; Lodercio Culpi
Regional distribution of cystic fibrosis-linked DNA haplotypes in Brazil: multicenter study.
Human biology 1997;69(1):75-88.
1996: Salmo Raskin; Joy D Cogan; Marshall Summar; A Moreno; MR Krishnamani; John A Phillips
Genetic mapping of the human pituitary-specific transcriptional factor gene and its analysis in familial panhypopituitary dwarfism.
Human genetics 1996;98(6):703-5.
1993: Salmo Raskin; John A Phillips; MR Krishnamani; Cindy L Vnencak-Jones; RA Parker; Tatiana Rozov; J M Cardieri; P Marostica; F Abreu; R Giugliani
DNA analysis of cystic fibrosis in Brazil by direct PCR amplification from Guthrie cards.
American journal of medical genetics 1993;46(6):665-9.
1992: Salmo Raskin; John A Phillips; G Kaplan; M McClure; Cindy L Vnencak-Jones
Cystic fibrosis genotyping by direct PCR analysis of Guthrie blood spots.
PCR methods and applications 1992;2(2):154-6.
1992: Salmo Raskin; John A Phillips; Cindy L Vnencak-Jones; E Dawson; G Kaplan; M McClure
Utility of internal markers to improve the accuracy of cystic fibrosis genotype analysis.
BioTechniques 1992;13(3):372-4.