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Jose Carlos Ferreira

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Physiology

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Sachiko Nakagawa; Adele Schneider; Wei Sun; Jie Zhan; Jose Carlos Ferreira; Susan Gross; Tina Hambuch; Anja Kammesheidt; Steven Keiles; Brian L Mark; Nicole Schreiber-Agus
Platelet hexosaminidase a enzyme assay effectively detects carriers missed by targeted DNA mutation analysis.
Carsten Bergmann; Reinhard Buettner; Annegret Buske; Reinhold Cremer; Henry Fehrenbach; Jose Carlos Ferreira; Valeska Frank; Tobias Hampel; Julia Hoefele; Jon Jonsson; Nadina Ortiz Brüchle; Lars Pape; Antónia Santos; Nanette Sarioglu; Andreas Venghaus; Jennifer von Bothmer; Lutz T Weber; Jan U Becker; Marcus R Benz; Klaus Zerres
Mutations in multiple PKD genes may explain early and severe polycystic kidney disease.
Jose Carlos Ferreira; Sanaa Choufani; Daria Grafodatskaya; Darci T Butcher; Chunhua Zhao; David Chitayat; Cheryl Shuman; John Kingdom; Sarah Keating; Rosanna Weksberg
WNT2 promoter methylation in human placenta is associated with low birthweight percentile in the neonate.

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All Publications

2012: Sachiko Nakagawa; Adele Schneider; Wei Sun; Jie Zhan; Jose Carlos Ferreira; Susan Gross; Tina Hambuch; Anja Kammesheidt; Steven Keiles; Brian L Mark; Nicole Schreiber-Agus
Platelet hexosaminidase a enzyme assay effectively detects carriers missed by targeted DNA mutation analysis.
JIMD reports 2012;6():1-6.
2011: Carsten Bergmann; Reinhard Buettner; Annegret Buske; Reinhold Cremer; Henry Fehrenbach; Jose Carlos Ferreira; Valeska Frank; Tobias Hampel; Julia Hoefele; Jon Jonsson; Nadina Ortiz Brüchle; Lars Pape; Antónia Santos; Nanette Sarioglu; Andreas Venghaus; Jennifer von Bothmer; Lutz T Weber; Jan U Becker; Marcus R Benz; Klaus Zerres
Mutations in multiple PKD genes may explain early and severe polycystic kidney disease.
Journal of the American Society of Nephrology : JASN 2011;22(11):2047-56.
2011: Jose Carlos Ferreira; Sanaa Choufani; Daria Grafodatskaya; Darci T Butcher; Chunhua Zhao; David Chitayat; Cheryl Shuman; John Kingdom; Sarah Keating; Rosanna Weksberg
WNT2 promoter methylation in human placenta is associated with low birthweight percentile in the neonate.
Epigenetics : official journal of the DNA Methylation Society 2011;6(4):440-9.
2011: Rageen Rajendram; Jose Carlos Ferreira; Daria Grafodatskaya; Sanaa Choufani; Theodore Chiang; Shuye Pu; Darci T Butcher; Shoshana J Wodak; Rosanna Weksberg
Assessment of methylation level prediction accuracy in methyl-DNA immunoprecipitation and sodium bisulfite based microarray platforms.
Epigenetics : official journal of the DNA Methylation Society 2011;6(4):410-5.
2011: Yi-an Chen; Sanaa Choufani; Jose Carlos Ferreira; Daria Grafodatskaya; Darci T Butcher; Rosanna Weksberg
Sequence overlap between autosomal and sex-linked probes on the Illumina HumanMethylation27 microarray.
Genomics 2011;97(4):214-22.
2011: Sanaa Choufani; Jonathan S Shapiro; Martha Susiarjo; Darci T Butcher; Daria Grafodatskaya; Youliang Lou; Jose Carlos Ferreira; Dalila Pinto; Stephen W Scherer; Lisa G Shaffer; Philippe Coullin; Isabella Caniggia; Joseph Beyene; Rima Slim; Marisa S Bartolomei; Rosanna Weksberg
A novel approach identifies new differentially methylated regions (DMRs) associated with imprinted genes.
Genome research 2011;21(3):465-76.
2011: Ariadna Grigoriu; Jose Carlos Ferreira; Sanaa Choufani; Dora Baczyk; John Kingdom; Rosanna Weksberg
Cell specific patterns of methylation in the human placenta.
Epigenetics : official journal of the DNA Methylation Society 2011;6(3):368-79.
2010: Daria Grafodatskaya; S Choufani; Jose Carlos Ferreira; D T Butcher; Y Lou; C Zhao; Stephen W Scherer; Rosanna Weksberg
EBV transformation and cell culturing destabilizes DNA methylation in human lymphoblastoid cell lines.
Genomics 2010;95(2):73-83.
2009: Shin-ichi Horike; Jose Carlos Ferreira; Makiko Meguro-Horike; Sanaa Choufani; Adam C Smith; Cheryl Shuman; Wendy Meschino; David Chitayat; Elaine Zackai; Stephen W Scherer; Rosanna Weksberg
Screening of DNA methylation at the H19 promoter or the distal region of its ICR1 ensures efficient detection of chromosome 11p15 epimutations in Russell-Silver syndrome.
American journal of medical genetics. Part A 2009;149A(11):2415-23.
2009: Dezso David; Bárbara Marques; Cristina Ferreira; Paula Vieira; Alfredo Corona-Rivera; Jose Carlos Ferreira; Hans van Bokhoven
Characterization of two ectrodactyly-associated translocation breakpoints separated by 2.5 Mb on chromosome 2q14.1-q14.2.
European journal of human genetics : EJHG 2009;17(8):1024-33.
2008: Lin Guo; Sanaa Choufani; Jose Carlos Ferreira; Adam Smith; David Chitayat; Cheryl Shuman; Ruchita Uxa; Sarah Keating; John Kingdom; Rosanna Weksberg
Altered gene expression and methylation of the human chromosome 11 imprinted region in small for gestational age (SGA) placentae.
Developmental biology 2008;320(1):79-91.
2008: Howard Cuckle; Fergal D Malone; Dave Wright; T Flint Porter; David A Nyberg; Christine H Comstock; George R Saade; Richard L Berkowitz; Jose Carlos Ferreira; Lorraine Dugoff; Sabrina D Craigo; Ilan E Timor; Stephen R Carr; Honor M Wolfe; Mary E D'alton
Contingent screening for Down syndrome--results from the FaSTER trial.
Prenatal diagnosis 2008;28(2):89-94.
2007: Adam Smith; Sanaa Choufani; Jose Carlos Ferreira; Rosanna Weksberg
Growth regulation, imprinted genes, and chromosome 11p15.5.
Pediatric research 2007;61(5 Pt 2):43R-47R.
2006: Christine H Comstock; Fergal D Malone; Robert Ball; David A Nyberg; George R Saade; Richard L Berkowitz; Jose Carlos Ferreira; Lorraine Dugoff; Sabrina D Craigo; Ilan E Timor-Tritsch; Stephen R Carr; Honor M Wolfe; Diana Bianchi; Mary E D'alton
Is there a nuchal translucency millimeter measurement above which there is no added benefit from first trimester serum screening?
American journal of obstetrics and gynecology 2006;195(3):843-7.
2002: Susan J Gross; Jose Carlos Ferreira; Bernice E Morrow; Pe'er Dar; Birgit Funke; Dineo Khabele; Irwin R Merkatz
Gene expression profile of trisomy 21 placentas: a potential approach for designing noninvasive techniques of prenatal diagnosis.
American journal of obstetrics and gynecology 2002;187(2):457-62.
2001: Pe'er Dar; A A Javed; Myrna Ben-Yishay; Jose Carlos Ferreira; A D Paterson; Susan J Gross; D Chitayat; Bernice E Morrow; H M Nitowsky
Potential mapping of corneal dermoids to Xq24-qter.
Journal of medical genetics 2001;38(10):719-23.
2001: Alan L Shanske; Jose Carlos Ferreira; J C Leonard; P Fuller; Robert W Marion
Hirschsprung disease in an infant with a contiguous gene syndrome of chromosome 13.
American journal of medical genetics 2001;102(3):231-6.
2001: Pe'er Dar; Gay Sachs; S M Carter; Jose Carlos Ferreira; H M Nitowsky; Susan J Gross
Prenatal diagnosis of Bardet-Biedl syndrome by targeted second-trimester sonography.
Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology 2001;17(4):354-6.
2000: Eric A Schon; S H Kim; Jose Carlos Ferreira; P Magalhães; M Grace; Dorothy Warburton; Susan J Gross
Chromosomal non-disjunction in human oocytes: is there a mitochondrial connection?
Human reproduction (Oxford, England) 2000;15 Suppl 2():160-72.
1999: Jose Carlos Ferreira; S M Carter; Peter S Bernstein; Ethylin Jabs; JS Glickstein; Robert W Marion; R N Baergen; Susan J Gross
Second-trimester molecular prenatal diagnosis of sporadic Apert syndrome following suspicious ultrasound findings.
Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology 1999;14(6):426-30.
1999: Birgit Funke; L Edelmann; N McCain; RK Pandita; Jose Carlos Ferreira; Sandra Merscher-gomez; M Zohouri; Linda Cannizzaro; Alan L Shanske; Bernice E Morrow
Der(22) syndrome and velo-cardio-facial syndrome/DiGeorge syndrome share a 1.5-Mb region of overlap on chromosome 22q11.
American journal of human genetics 1999;64(3):747-58.