True polyploid meiosis in the human male

Authors: Pearson, Peter L., Madan, Kamlesh

Source: Genetics and Molecular Biology. June 2018 41(2)

Subject Terms: Polyploidy, meiosis, human, male

File Description: text/html

Access URL: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572018000300410

Germline DNA copy number variation in individuals with Argyrophilic grain disease reveals CTNS as a plausible candidate gene

Authors: Villela, Darine, Kimura, Lilian, Schlesinger, David, Gonçalves, Amanda, Pearson, Peter L., Suemoto, Claudia K., Pasqualucci, Carlos, Krepischi, Ana Cristina, Grinbergand, Lea T., Rosenberg, Carla

Source: Genetics and Molecular Biology. January 2013 36(4)

Subject Terms: Argyrophilic grain disease, copy number variations, CNVs, array-CGH, CTNS

File Description: text/html

Access URL: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572013000400006

Congenital chromoanagenesis in the routine postnatal chromosomal microarray analyses

Authors: Villela, Darine, Mazzonetto, Patricia C., Migliavacca, Michele P., Perrone, Eduardo, Guida, Gustavo, Milanezi, Maria Fernanda G., Jorge, Alexander A. L., Ribeiro‐Bicudo, Lucilene A., Kok, Fernando, Campagnari, Francine, Rosso‐Giuliani, Liane, Costa, Silvia Souza, Vianna‐Morgante, Angela M., Pearson, Peter L., Krepischi, Ana C. V., Rosenberg, Carla

Source: American journal of medical genetics.Part A. 185(8):2335-2344

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100134461793.0x000001&indx=1&recIds=ETOCvdc_100134461793.0x000001

Rapid N-Acetyltransferase 2 Imputed Phenotype and Smoking May Increase Risk of Colorectal Cancer in Women (Netherlands)

Authors: van der Hel, Olga L., Sandkuijl, Lodewijk, Pearson, Peter L., Grobbee, Diederick E.

Source: Cancer Causes & Control, 2003 Apr 01. 14(3), 293-298.

Access URL: https://www.jstor.org/stable/3553979

Insight into the mechanisms and consequences of recurrent telomere capture associated with a sub-telomeric deletion

Authors: dos Santos, Alexsandro, Campagnari, Francine, Krepischi, Ana Cristina Victorino, Ribeiro Câmara, Maria de Lourdes, de Arruda Brasil, Rita de Cássia E., Vieira, Ligia, Vianna-Morgante, Angela M., Otto, Paulo A., Pearson, Peter L., Rosenberg, Carla

Source: Chromosome research. 26(3):191-198

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100127174347.0x000001&indx=1&recIds=ETOCvdc_100127174347.0x000001

Novel partial duplication of EYA1 causes branchiootic syndrome in a large Brazilian family

Authors: Dantas, Vitor G.L., Freitas, Erika L., Della-Rosa, Valter A., Lezirovitz, Karina, de Moraes, Ana Maria S.M., Ramos, Silvia B., Oiticica, Jeanne, Alves, Leandro U., Pearson, Peter L., Rosenberg, Carla, Mingroni-Netto, Regina C.

Source: International journal of audiology. 54(9):593-598

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100105931041.0x000001&indx=1&recIds=ETOCvdc_100105931041.0x000001

High Sibling Correlation on Methylphenidate Response but No Association with DAT1-10R Homozygosity in Dutch Sibpairs with ADHD

Authors: van der Meulen, Emma M., Bakker, Steven C., Pauls, David L., Oteman, Nicole, Kruitwagen, Cas L. J. J., Pearson, Peter L., Sinke, Richard J., Buitelaar, Jan K.

Source: Journal of Child Psychology and Psychiatry. Oct 2005 46(10):1074-1080.

Peer Reviewed: Y

Page Count: 7

Descriptors: Foreign Countries, Children, Attention Deficit Hyperactivity Disorder, Siblings, Patients, Regression (Statistics), Correlation, Drug Therapy, Outcomes of Treatment, Genetics

Geographic Terms: Netherlands

Copy number variants on the X chromosome in women with primary ovarian insufficiency

Authors: Knauff, Erik A.H., Blauw, Hylke M., Pearson, Peter L., Kok, Klaas, Wijmenga, Cisca, Veldink, Jan H., van den Berg, Leonard H., Bouchard, Philippe, Fauser, Bart C.J.M., Franke, Lude

Source: In Fertility and Sterility 2011 95(5):1584-1588

Current Smoking at Menopause Rather than Duration Determines the Onset of Natural Menopause

Authors: van Asselt, Kristel M., Kok, Helen S., van der Schouw, Yvonne T., Grobbee, Diederick E., Velde, Egbert R. te, Pearson, Peter L., Peeters, Petra H. M.

Source: Epidemiology, 2004 Sep 01. 15(5), 634-639.

Access URL: https://www.jstor.org/stable/20485963

Chromosomal microarray analyses from 5778 patients with neurodevelopmental disorders and congenital anomalies in Brazil.

Authors: Krepischi, Ana C. V., Villela, Darine, da Costa, Silvia Souza, Mazzonetto, Patricia C., Schauren, Juliana, Migliavacca, Michele P., Milanezi, Fernanda, Santos, Juliana G., Guida, Gustavo, Guarischi-Sousa, Rodrigo, Campana, Gustavo, Kok, Fernando, Schlesinger, David, Kitajima, Joao Paulo, Campagnari, Francine, Bertola, Debora R., Vianna-Morgante, Angela M., Pearson, Peter L., Rosenberg, Carla

Source: Scientific Reports; 9/7/2022, Vol. 12 Issue 1, p1-11, 11p

Subject Terms: CONGENITAL disorders, HUMAN abnormalities, AUTISM spectrum disorders, NEURAL development, SINGLE-payer health care

Geographic Terms: BRAZIL

Company/Entity: UNIVERSIDADE de Sao Paulo

Age at natural menopause is not linked with the follicle-stimulating hormone receptor region: a sib-pair study

Authors: Kok, Helen S, van Asselt, Kristel M, Peeters, Petra H.M, van der Schouw, Yvonne T, Grobbee, Diederick E, Pearson, Peter L, Wijmenga, Cisca

Source: In Fertility and Sterility 2004 81(3):611-616

Heritability of menopausal age in mothers and daughters

Authors: van Asselt, Kristel M., Kok, Helen S., Pearson, Peter L., Dubas, Judith S., Peeters, Petra H.M. ^*, te Velde, Egbert R., van Noord, Paulus A.H.

Source: In Fertility and Sterility 2004 82(5):1348-1351

Linkage Analysis of Extremely Discordant and Concordant Sibling Pairs Identifies Quantitative Trait Loci Influencing Variation in Human Menopausal Age

Authors: van Asselt, Kristel M., Kok, Helen S., Putter, Hein, Wijmenga, Cisca, Peeters, Petra H.M., van der Schouw, Yvonne T., Grobbee, Diederick E., te Velde, Egbert R., Mosselman, Sietse, Pearson, Peter L.

Source: In The American Journal of Human Genetics 2004 74(3):444-453

Origin of Chromosome Rearrangements in Two Long-Lived Human Keratinocyte Lines

Authors: Rosenberg, Carla, Stetten, Gail, Pearson, Peter L., Littlefield, John W.

Source: In Vitro Cellular & Developmental Biology, 1991 Oct 01. 27A(10), 823-825.

Access URL: https://www.jstor.org/stable/4296755

A major non-HLA locus in celiac disease maps to chromosome 19

Authors: Van Belzen, Martine J ^{∗, ‡}, Meijer, Jos W.R ^§, Sandkuijl, Lodewijk A ^✠, Bardoel, Alfons F.J ^∗, Mulder, Chris J.J ^§, Pearson, Peter L ^∗, Houwen, Roderick H.J ^‡, Wijmenga, Cisca ^{∗, *}

Source: In Gastroenterology 2003 125(4):1032-1041

Number of rare germline CNVs and TP53 mutation types

Authors: Silva Amanda G, Achatz Isabel Maria W, Krepischi Ana CV, Pearson Peter L, Rosenberg Carla

Source: Orphanet Journal of Rare Diseases, Vol 7, Iss 1, p 101 (2012)

Subject Terms: TP53, R337H, Li-Fraumeni syndrome, CNV, Penetrance, Medicine

File Description: electronic resource

Relation: http://www.ojrd.com/content/7/1/101; https://doaj.org/toc/1750-1172

Access URL: https://doaj.org/article/e9d839f1d00f44d6b327149402ea5cc6

Quality and Quantity of DNA Isolated from Frozen Urine in Population-Based Research

Authors: van der Hel, Olga L., van der Luijt, Rob B., Bas Bueno de Mesquita, H., van Noord, Paul A.H., Slothouber, Barbara, Roest, Mark, van der Schouw, Yvonne T., Grobbee, Diederick E., Pearson, Peter L., Peeters, Petra H.M.

Source: In Analytical Biochemistry 15 May 2002 304(2):206-211

Hepatoblastomas exhibit marked NNMT downregulation driven by promoter DNA hypermethylation.

Authors: Rivas, Maria Prates, Aguiar, Talita Ferreira Marques, Maschietto, Mariana, Lemes, Renan B, Caires-Júnior, Luiz Carlos, Goulart, Ernesto, Telles-Silva, Kayque Alves, Novak, Estela, Cristofani, Lilian Maria, Odone, Vicente, Cypriano, Monica, de Toledo, Silvia Regina Caminada, Carraro, Dirce Maria, Escobar, Melissa Quintero, Lee, Hana, Johnston, Michael, da Costa, Cecilia Maria Lima, da Cunha, Isabela Werneck, Tasic, Ljubica, Pearson, Peter L

Source: Tumor Biology (IOS Press); Dec2020, Vol. 42 Issue 12, p1-14, 14p

Subject Terms: NUCLEAR magnetic resonance spectroscopy, MAGIC angle spinning, TUMOR suppressor genes, NUCLEAR magnetic resonance, NICOTINAMIDE

Fluorescence In Situ Hybridization Analysis Shows the Frequent Occurrence of 14q32.3 Rearrangements with Involvement of Immunoglobulin Switch Regions in Myeloma Cell Lines

Authors: Kuipers, Jeroen ^{a, *}, Vaandrager, Jan Willem ^d, Weghuis, Danielle Olde ^c, Pearson, Peter L ^c, Scheres, Jacques ^c, Lokhorst, Henk M ^b, Clevers, Hans ^a, Bast, Bert J.E.G ^a

Source: In Cancer Genetics and Cytogenetics 1999 109(2):99-107

A microduplication of 5p15.33 reveals CLPTM1L as a candidate gene for cleft lip and palate

Authors: Izzo, Giselle, Freitas, Érika L., Krepischi, Ana Cristina V., Pearson, Peter L., Vasques, Luciana R., Passos-Bueno, Maria Rita S., Bertola, Débora R., Rosenberg, Carla

Source: In European Journal of Medical Genetics April 2013 56(4):222-225