HuGE Literature Finder

Records 1-100

Query Trace: Down syndrome[orginal query]

Increased MTHFR promoter methylation in mothers of Down syndrome individuals. Mutation research 2016 Feb 787 1-6. Coppedè Fabio, Denaro Maria, Tannorella Pierpaola, Migliore Luc
Association Between Sequence Variations in RCAN1 Promoter and the Risk of Sporadic Congenital Heart Disease in a Chinese Population. Pediatric cardiology 2015 Oct 36 (7): 1393-9. Li Xiaoyong, Wang Gang, An Yong, Li Hongbo, Li Yonggang, Wu Ch
Early onset of moyamoya syndrome in a Down syndrome patient with the genetic variant RNF213 p.R4810K. Brain & development 2015 Sep 37 (8): 822-4. Chong Pin Fee, Ogata Reina, Kobayashi Hatasu, Koizumi Akio, Kira Ryuta
[Noninvasive prenatal screen of trisomy-21 using maternal plasma fetal free RNA allelic ratio]. Zhonghua fu chan ke za zhi 2015 Aug 50 (8): 568-75. Xu Yajuan, Zhai Shanshan, Luo Xiaohua, Zhang Yingying, Ran Limin, Ren Lid
Clinical experience and follow-up with large-scale single-nucleotide polymorphism-based noninvasive prenatal aneuploidy testing. American journal of obstetrics and gynecology 2015 Aug 213 (2): 253. Singh Onkar Na
Role of folate-homocysteine pathway gene polymorphisms and nutritional cofactors in Down syndrome: A triad study. Human reproduction (Oxford, England) 2015 Aug 30 (8): 1982-93. Sukla K K, Jaiswal S K, Rai A K, Mishra O P, Gupta V, Kumar A, Raman
Birth Characteristics and Childhood Leukemia Risk: Correlations With Genetic Markers. Journal of pediatric hematology/oncology 2015 Jul 37 (5): e301-7. Kennedy Amy E, Kamdar Kala Y, Lupo Philip J, Okcu Mehmet F, Scheurer Michael E, Dorak Mehmet
Contribution of copy-number variation to Down syndrome-associated atrioventricular septal defects. Genetics in medicine : official journal of the American College of Medical Genetics 2015 Jul 17 (7): 554-60. Ramachandran Dhanya, Mulle Jennifer G, Locke Adam E, Bean Lora J H, Rosser Tracie C, Bose Promita, Dooley Kenneth J, Cua Clifford L, Capone George T, Reeves Roger H, Maslen Cheryl L, Cutler David J, Sherman Stephanie L, Zwick Michael
Genome-Wide Association Study of Down Syndrome-Associated Atrioventricular Septal Defects. G3 (Bethesda, Md.) 2015 Jul . Ramachandran Dhanya, Zeng Zhen, Locke Adam E, Mulle Jennifer G, Bean Lora J H, Rosser Tracie C, Dooley Kenneth J, Cua Clifford L, Capone George T, Reeves Roger H, Maslen Cheryl L, Cutler David J, Feingold Eleanor, Sherman Stephanie L, Zwick Michael
Somatic thrombopoietin (THPO) gene mutations in childhood myeloid leukemias. International journal of hematology 2015 Jul 102 (1): 140-3. Houwing Maite E, Koopman-Coenen Eva A, Kersseboom Rogier, Gooskens Saskia, Appel Inge M, Arentsen-Peters Susan T C J M, de Vries Andrica C H, Reinhardt Dirk, Stary Jan, Baruchel André, de Haas Valerie, Blink Marjolein, Lopes Cardozo Rob H, Pieters Rob, Michel Zwaan C, van den Heuvel-Eibrink Marry
[Association of MTHFR and MTRR genes polymorphisms with non-disjunctions of chromosomes 18 and 21]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2015 Jun 32 (3): 395-9. Guo Qiannan, Wang Hongdan, Yang Ke, Zhang Bo, Li Tao, Liao Shix
Folate metabolism gene polymorphisms and risk for down syndrome offspring in Turkish women. Genetic testing and molecular biomarkers 2015 Apr 19 (4): 191-7. Izci Ay Ozlem, Ay Mustafa Ertan, Erdal Mehmet Emin, Cayan Filiz, Tekin Sevinc, Soylemez Fatma, Sungur Mehmet Ali, Derici Y?ld?r?m Did
Germline mutations in NKX2-5, GATA4, and CRELD1 are rare in a Mexican sample of Down syndrome patients with endocardial cushion and septal heart defects. Pediatric cardiology 2015 Apr 36 (4): 802-8. Alcántara-Ortigoza Miguel A, De Rubens-Figueroa Jesús, Reyna-Fabian Miriam E, Estandía-Ortega Bernardette, González-del Angel Ariadna, Molina-Álvarez Bertha, Velázquez-Aragón José A, Villagómez-Martínez Sandra, Pereira-López Gabriela I, Cruz-Martínez Víctor, Álvarez-Gómez Rosa M, García-Díaz Lui
Maternal risk for down syndrome and polymorphisms in the promoter region of the DNMT3B gene: a case-control study. Birth defects research. Part A, Clinical and molecular teratology 2015 Apr 103 (4): 299-305. Jaiswal Sushil Kumar, Sukla Krishna Kishore, Kumari Neha, Lakhotia Anjali Rani, Kumar Ashok, Rai Amit Kum
DYRK1A mutations in two unrelated patients. European journal of medical genetics 2015 Mar 58 (3): 168-74. Ruaud Lyse, Mignot Cyril, Guët Agnès, Ohl Christelle, Nava Caroline, Héron Delphine, Keren Boris, Depienne Christel, Benoit Valérie, Maystadt Isabelle, Lederer Damien, Amsallem Daniel, Piard Juliet
Disruptive de novo mutations of DYRK1A lead to a syndromic form of autism and ID. Molecular psychiatry 2015 Feb . van Bon B W M, Coe B P, Bernier R, Green C, Gerdts J, Witherspoon K, Kleefstra T, Willemsen M H, Kumar R, Bosco P, Fichera M, Li D, Amaral D, Cristofoli F, Peeters H, Haan E, Romano C, Mefford H C, Scheffer I, Gecz J, de Vries B B A, Eichler E
Altered LINE-1 Methylation in Mothers of Children with Down Syndrome. PloS one 2015 10 (5): e0127423. Božovi? Ivana Babi?, Stankovi? Aleksandra, Živkovi? Maja, Vranekovi? Jadranka, Kapovi? Miljenko, Brajenovi?-Mili? Boja
Association Between DSCR1 Variations and Congenital Heart Disease Susceptibility. Medical science monitor : international medical journal of experimental and clinical research 2015 21 3536-9. Guo Ren Yu, Li Xiao Feng, Bai Song, Guo Jian, Ding Nan, Li Zhong Z
Genetic analysis of STR markers on chromosome 21 in a Han population from southeast China. Genetics and molecular research : GMR 2015 14 (1): 1718-25. Zhu Y N, Lu S M, Wang M, Shen F X, Chen Y, Hu J
Serum NGAL is Associated with Distinct Plasma Amyloid-? Peptides According to the Clinical Diagnosis of Dementia in Down Syndrome. Journal of Alzheimer's disease : JAD 2015 45 (3): 733-43. Naudé Petrus J W, Dekker Alain D, Coppus Antonia M W, Vermeiren Yannick, Eisel Ulrich L M, van Duijn Cornelia M, Van Dam Debby, De Deyn Peter
The down syndrome biomarker initiative (DSBI) pilot: proof of concept for deep phenotyping of Alzheimer's disease biomarkers in down syndrome. Frontiers in behavioral neuroscience 2015 9 239. Rafii Michael S, Wishnek Hannah, Brewer James B, Donohue Michael C, Ness Seth, Mobley William C, Aisen Paul S, Rissman Robert
Clinical experience and follow-up with large scale single-nucleotide polymorphism-based noninvasive prenatal aneuploidy testing. American journal of obstetrics and gynecology 2014 Nov 211 (5): 527.e1-527.e17. Dar Pe'er, Curnow Kirsten J, Gross Susan J, Hall Megan P, Stosic Melissa, Demko Zachary, Zimmermann Bernhard, Hill Matthew, Sigurjonsson Styrmir, Ryan Allison, Banjevic Milena, Kolacki Paula L, Koch Susan W, Strom Charles M, Rabinowitz Matthew, Benn Pet
Gene alterations involving the CRLF2-JAK pathway and recurrent gene deletions in Down syndrome-associated acute lymphoblastic leukemia in Japan. Genes, chromosomes & cancer 2014 Nov 53 (11): 902-10. Hanada Isamu, Terui Kiminori, Ikeda Fumika, Toki Tsutomu, Kanezaki Rika, Sato Tomohiko, Kamio Takuya, Kudo Ko, Sasaki Shinya, Takahashi Yoshihiro, Hayashi Yasuhide, Inukai Takeshi, Kojima Seiji, Koike Kenichi, Kosaka Yoshiyuki, Kobayashi Masao, Imaizumi Masue, Mitsui Tetsuo, Hori Hiroki, Hara Junichi, Horibe Keizo, Nagai Jun-ichi, Goto Hiroaki, Ito Etsu
HLA antigens in individuals with down syndrome and alopecia areata. World journal of clinical cases 2014 Oct 2 (10): 541-5. Estefan Juliany L, Oliveira Juliana C, Abad Eliane D, Saintive Simone B, Porto Luis Cristóvão Ms, Ribeiro Marc
The MTRR 66A>G polymorphism and maternal risk of birth of a child with Down syndrome in Caucasian women: a case-control study and a meta-analysis. Molecular biology reports 2014 Sep 41 (9): 5571-83. Coppedè Fabio, Bosco Paolo, Lorenzoni Valentina, Denaro Maria, Anello Guido, Antonucci Ivana, Barone Concetta, Stuppia Liborio, Romano Corrado, Migliore Luc
Meta-analysis of Methylenetetrahydrofolate reductase maternal gene in Down syndrome: increased susceptibility in women carriers of the MTHFR 677T allele. Molecular biology reports 2014 Aug 41 (8): 5491-504. Victorino D B, Godoy M F, Goloni-Bertollo E M, Pavarino E
Single-nucleotide polymorphism-based noninvasive prenatal screening in a high-risk and low-risk cohort. Obstetrics and gynecology 2014 Aug 124 (2 Pt 1): 210-8. Pergament Eugene, Cuckle Howard, Zimmermann Bernhard, Banjevic Milena, Sigurjonsson Styrmir, Ryan Allison, Hall Megan P, Dodd Michael, Lacroute Phil, Stosic Melissa, Chopra Nikhil, Hunkapiller Nathan, Prosen Dennis E, McAdoo Sallie, Demko Zachary, Siddiqui Asim, Hill Matthew, Rabinowitz Matth
Polymorphisms in BACE2 may affect the age of onset Alzheimer's dementia in Down syndrome. Neurobiology of aging 2014 Jun 35 (6): 1513.e1-5. Mok Kin Y, Jones Emma L, Hanney Marisa, Harold Denise, Sims Rebecca, Williams Julie, Ballard Clive, Hardy Jo
Methylenetetrahydrofolate reductase polymorphism is not risk factor for Down syndrome in North India. Indian journal of human genetics 2014 Apr 20 (2): 142-7. Rai Vandana, Yadav Upendra, Kumar Pradeep, Yadav Sushil Kum
Application of multiplex SNaPshot assay in measurement of PLAC4 RNA-SNP allelic ratio for noninvasive prenatal detection of trisomy 21. Prenatal diagnosis 2014 Feb 34 (2): 139-44. Yang Lan, Sun Haiyan, Chen Daozhen, Lu Mudan, Wang Junfeng, Xu Fei, Hu Lingqing, Xiao Jianp
Combined folate gene MTHFD and TC polymorphisms as maternal risk factors for Down syndrome in China. Genetics and molecular research : GMR 2014 13 (1): 1764-73. Liao Y P, Zhang D, Zhou W, Meng F M, Bao M S, Xiang P, Liu C
Frequent cases of RAS-mutated Down syndrome acute lymphoblastic leukaemia lack JAK2 mutations. Nature communications 2014 5 4654. Nikolaev Sergey I, Garieri Marco, Santoni Federico, Falconnet Emilie, Ribaux Pascale, Guipponi Michel, Murray Aoife, Groet Jürgen, Giarin Emanuela, Basso Giuseppe, Nizetic Dean, Antonarakis Stylianos
Genetic polymorphisms involved in folate metabolism and maternal risk for down syndrome: a meta-analysis. Disease markers 2014 2014 517504. Balduino Victorino Daniella, de Godoy Moacir Fernandes, Goloni-Bertollo Eny Maria, Pavarino Érika Cristi
Genetic variants conferring susceptibility to Alzheimer's disease in the general population; do they also predispose to dementia in Down's syndrome. BMC research notes 2014 7 (1): 42. Patel Ashok, Rees Simon D, Kelly M Ann, Bain Stephen C, Barnett Anthony H, Prasher Anisha, Arshad Humaria, Prasher Vee
Maternal methylenetetrahydrofolate reductase C677T polymorphism and down syndrome risk: a meta-analysis from 34 studies. PloS one 2014 9 (9): e108552. Rai Vandana, Yadav Upendra, Kumar Pradeep, Yadav Sushil Kumar, Mishra Om Prake
GATA1-mutant clones are frequent and often unsuspected in babies with Down syndrome: identification of a population at risk of leukemia. Blood 2013 Dec 122 (24): 3908-17. Roberts Irene, Alford Kate, Hall Georgina, Juban Gaetan, Richmond Helen, Norton Alice, Vallance Grant, Perkins Kelly, Marchi Emanuele, McGowan Simon, Roy Anindita, Cowan Gillian, Anthony Mark, Gupta Amit, Ho John, Uthaya Sabita, Curley Anna, Rasiah Shree Vishna, Watts Timothy, Nicholl Richard, Bedford-Russell Alison, Blumberg Raoul, Thomas Angela, Gibson Brenda, Halsey Chris, Lee Pek-Wan, Godambe Sunit, Sweeney Connor, Bhatnagar Neha, Goriely Anne, Campbell Peter, Vyas Paresh,
The MTR 2756A>G polymorphism and maternal risk of birth of a child with Down syndrome: a case-control study and a meta-analysis. Molecular biology reports 2013 Dec 40 (12): 6913-25. Coppedè Fabio, Bosco Paolo, Lorenzoni Valentina, Migheli Francesca, Barone Concetta, Antonucci Ivana, Stuppia Liborio, Romano Corrado, Migliore Luc
Maternal gene polymorphisms involved in folate metabolism and the risk of having a Down syndrome offspring: a meta-analysis. Mutagenesis 2013 Nov 28 (6): 661-71. Yang Mei, Gong Tian, Lin Xiaofang, Qi Ling, Guo Yiyang, Cao Zhongqiang, Shen Min, Du Yuk
[Rapid screening for MTHFR gene 677C>T polymorphism in Down syndrome using high resolution melting curve and pyrosequencing]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2013 Oct 30 (5): 528-33. Sun Jing-jing, Shen Yun-lin, Yan Chong-bing, Chen Yi-huan, Gong Xiao-h
Evidence that PICALM affects age at onset of Alzheimer's dementia in Down syndrome. Neurobiology of aging 2013 Oct 34 (10): 2441.e1-5. Jones Emma L, Mok Kin, Hanney Marisa, Harold Denise, Sims Rebecca, Williams Julie, Ballard Cli
Prevalence of methylenetetrahydrofolate reductase 677 C-T polymorphism among mothers of Down syndrome children. Indian journal of human genetics 2013 Oct 19 (4): 412-4. Kaur Anupam, Kaur Amande
The complex SNP and CNV genetic architecture of the increased risk of congenital heart defects in Down syndrome. Genome research 2013 Sep 23 (9): 1410-21. Sailani M Reza, Makrythanasis Periklis, Valsesia Armand, Santoni Federico A, Deutsch Samuel, Popadin Konstantin, Borel Christelle, Migliavacca Eugenia, Sharp Andrew J, Duriaux Sail Genevieve, Falconnet Emilie, Rabionet Kelly, Serra-Juhé Clara, Vicari Stefano, Laux Daniela, Grattau Yann, Dembour Guy, Megarbane Andre, Touraine Renaud, Stora Samantha, Kitsiou Sofia, Fryssira Helena, Chatzisevastou-Loukidou Chariklia, Kanavakis Emmanouel, Merla Giuseppe, Bonnet Damien, Pérez-Jurado Luis A, Estivill Xavier, Delabar Jean M, Antonarakis Stylianos
Betaine-homocysteine methyltransferase 742G>A polymorphism and risk of down syndrome offspring in a Brazilian population. Molecular biology reports 2013 Aug 40 (8): 4685-9. Amorim Márcia R, Moura Cláudia M, Gomes Aline D, Barboza Hazel N, Lopes Roberta B, Ribeiro Márcia G, Costa Lima Marcelo
Polymorphisms in genes RFC-1/CBS as maternal risk factors for Down syndrome in China. Archives of gynecology and obstetrics 2013 Aug 288 (2): 273-7. Wang Shao-shuai, Wang Chao, Qiao Fu-yuan, Lv Juan-juan, Feng Li
The reduced folate carrier (RFC-1) 80A>G polymorphism and maternal risk of having a child with Down syndrome: a meta-analysis. Nutrients 2013 Jul 5 (7): 2551-63. Coppedè Fabio, Lorenzoni Valentina, Migliore Luc
[Practicality of rapid prenatal screening for Down syndrome with PCR-short tandem repeat method]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2013 Jun 30 (3): 277-82. Guan Lixue, Ren Cuiai, Li Haibo, Gao Li, Jia Nan, Guan H
IKZF1 deletion is associated with a poor outcome in pediatric B-cell precursor acute lymphoblastic leukemia in Japan. Cancer medicine 2013 Jun 2 (3): 412-9. Asai Daisuke, Imamura Toshihiko, Suenobu So-ichi, Saito Akiko, Hasegawa Daiichiro, Deguchi Takao, Hashii Yoshiko, Matsumoto Kimikazu, Kawasaki Hirohide, Hori Hiroki, Iguchi Akihiro, Kosaka Yoshiyuki, Kato Koji, Horibe Keizo, Yumura-Yagi Keiko, Hara Junichi, Oda Megumi,
DHFR 19-bp deletion and SHMT C1420T polymorphisms and metabolite concentrations of the folate pathway in individuals with Down syndrome. Genetic testing and molecular biomarkers 2013 Apr 17 (4): 274-7. Mendes Cristiani Cortez, Raimundo Aline Maria Zanchetta de Aquino, Oliveira Luciana Dutra, Zampieri Bruna Lancia, Marucci Gustavo Henrique, Biselli Joice Matos, Goloni-Bertollo Eny Maria, Eberlin Marcos Nogueira, Haddad Renato, Riccio Maria Francesca, Vannucchi Hélio, Carvalho Valdemir Melechco, Pavarino Érika Cristi
Functional variant in methionine synthase reductase decreases the risk of Down syndrome in China. The journal of obstetrics and gynaecology research 2013 Feb 39 (2): 511-5. Wang Shao-Shuai, Feng Ling, Qiao Fu-Yuan, Lv Juan-Ju
Folate metabolism gene polymorphisms MTHFR C677T and A1298C and risk for Down syndrome offspring: a meta-analysis. European journal of obstetrics, gynecology, and reproductive biology 2013 Jan . Wu X, Wang X, Chan Y, Jia S, Luo Y, Tang W
MTRR 66A>G polymorphism as maternal risk factor for Down syndrome: a meta-analysis. Genetic testing and molecular biomarkers 2013 Jan 17 (1): 69-73. Amorim Márcia R, Lima Marcelo A Cos
Potential contribution of SIM2 and ETS2 functional polymorphisms in Down syndrome associated malignancies. BMC medical genetics 2013 Jan 14 (1): 1. Chatterjee A, Dutta S, Mukherjee S, Mukherjee N, Dutta A, Mukherjee A, Sinha S, Panda CK, Chaudhuri K, Roy AL, Mukhopadhyay K
Analysis of GATA1 mutations and leukemogenesis in newborns with Down syndrome. Genetics and molecular research : GMR 2013 12 (4): 4630-8. Queiroz L B, Lima B D, Mazzeu J F, Camargo R, Córdoba M S, Q Magalhães I, Martins-de-Sá C, Ferrari
Down Syndrome Related Muscle Hypotonia: Association with COL6A3 Functional SNP rs2270669. Frontiers in genetics 2013 4 57. Dey Arpita, Bhowmik Krishnendu, Chatterjee Arpita, Chakrabarty Pit Baran, Sinha Swagata, Mukhopadhyay Kanch
APP mutations in the A? coding region are associated with abundant cerebral deposition of A?38. Acta neuropathologica 2012 Dec 124 (6): 809-21. Moro Maria Luisa, Giaccone Giorgio, Lombardi Raffaella, Indaco Antonio, Uggetti Andrea, Morbin Michela, Saccucci Stefania, Di Fede Giuseppe, Catania Marcella, Walsh Dominic M, Demarchi Andrea, Rozemuller Annemieke, Bogdanovic Nenad, Bugiani Orso, Ghetti Bernardino, Tagliavini Fabriz
Early-Onset, Coexisting Autoimmunity and Decreased HLA-Mediated Susceptibility Are the Characteristics of Diabetes in Down Syndrome. Diabetes care 2012 Dec . Aitken RJ, Mehers KL, Williams AJ, Brown J, Bingley PJ, Holl RW, Rohrer TR, Schober E, Abdul-Rasoul MM, Shield JP, Gillespie KM
Association of methylenetetrahydrofolate reductase gene 677C > T polymorphism and Down syndrome. Molecular biology reports 2012 Nov . Costa-Lima MA, Amorim MR, Orioli IM
Polymorphic haplotypes of CRELD1 differentially predispose Down syndrome and euploids individuals to atrioventricular septal defect. American journal of medical genetics. Part A 2012 Nov 158A (11): 2843-8. Ghosh Priyanka, Bhaumik Pranami, Ghosh Sujoy, Ozbek Umut, Feingold Eleanor, Maslen Cheryl, Sarkar Biswanath, Pramanik Vishmadeb, Biswas Priyanka, Bandyopadhyay Biswajit, Dey Subrata Kum
An excess of deleterious variants in VEGF-A pathway genes in Down-syndrome-associated atrioventricular septal defects. American journal of human genetics 2012 Oct 91 (4): 646-59. Ackerman Christine, Locke Adam E, Feingold Eleanor, Reshey Benjamin, Espana Karina, Thusberg Janita, Mooney Sean, Bean Lora J H, Dooley Kenneth J, Cua Clifford L, Reeves Roger H, Sherman Stephanie L, Maslen Cheryl
DNMT3B promoter polymorphisms and maternal risk of birth of a child with Down syndrome. Human reproduction (Oxford, England) 2012 Oct . Coppedè F, Bosco P, Tannorella P, Romano C, Antonucci I, Stuppia L, Romano C, Migliore L
Genetic polymorphisms modulate the folate metabolism of Brazilian individuals with Down syndrome. Molecular biology reports 2012 Oct 39 (10): 9277-84. Biselli J M, Zampieri B L, Goloni-Bertollo E M, Haddad R, Fonseca M F R, Eberlin M N, Vannucchi H, Carvalho V M, Pavarino E
High WT1 mRNA expression after induction chemotherapy and FLT3-ITD have prognostic impact in pediatric acute myeloid leukemia: a study of the Japanese Childhood AML Cooperative Study Group. International journal of hematology 2012 Oct 96 (4): 469-76. Shimada Akira, Taki Tomohiko, Koga Daisuke, Tabuchi Ken, Tawa Akio, Hanada Ryoji, Tsuchida Masahiro, Horibe Keizo, Tsukimoto Ichiro, Adachi Souichi, Kojima Seiji, Hayashi Yasuhi
Maternal SNPs in the p53 pathway: Risk factors for trisomy 21? Disease markers 2012 Oct . Boquett JA, Brandalize AP, Fraga LR, Schuler-Faccini L
Outcome in children with Down's syndrome and acute lymphoblastic leukemia: role of IKZF1 deletions and CRLF2 aberrations. Leukemia 2012 Oct 26 (10): 2204-11. Buitenkamp T D, Pieters R, Gallimore N E, van der Veer A, Meijerink J P P, Beverloo H B, Zimmermann M, de Haas V, Richards S M, Vora A J, Mitchell C D, Russell L J, Schwab C, Harrison C J, Moorman A V, van den Heuvel-Eibrink M M, den Boer M L, Zwaan C
Evaluation of C677T polymorphism of the methylenetetra hydrofolate reductase gene and its association with levels of serum homocysteine, folate, and vitamin B12 as maternal risk factors for Down syndrome. Indian journal of human genetics 2012 Sep 18 (3): 285-9. Mohanty Pankaj K, Kapoor Seema, Dubey Anand P, Pandey Sanjeev, Shah Renuka, Nayak Hemant K, Polipalli Sunil
[APOE gene polymorphisms associated with Down syndrome in Colombian populations]. Biomédica : revista del Instituto Nacional de Salud 2012 Jun 32 (2): 2. Rengifo L, Gaviria D, Serrano H
BHMT G742A and MTHFD1 G1958A polymorphisms and Down syndrome risk in the Brazilian population. Genetic testing and molecular biomarkers 2012 Jun 16 (6): 628-31. Zampieri Bruna Lancia, Biselli Joice Matos, Goloni-Bertollo Eny Maria, Pavarino Erika Cristi
Polymorphism C1420T of Serine hydroxymethyltransferase gene on maternal risk for Down syndrome. Molecular biology reports 2012 Mar 39 (3): 2561-6. Marucci Gustavo Henrique, Zampieri Bruna Lancia, Biselli Joice Matos, Valentin Sendi, Bertollo Eny Maria Goloni, Eberlin Marcos Nogueira, Haddad Renato, Riccio Maria Francesca, Vannucchi Hélio, Carvalho Valdemir Melechco, Pavarino Erika Cristi
Maternal risk for Down syndrome is modulated by genes involved in folate metabolism. Disease markers 2012 32 (2): 73-81. Zampieri Bruna Lancia, Biselli Joice Matos, Goloni-Bertollo Eny Maria, Vannucchi Hélio, Carvalho Valdemir Melechco, Cordeiro José Antônio, Pavarino Erika Cristi
Polymorphisms in HSD17B1: Early Onset and Increased Risk of Alzheimer's Disease in Women with Down Syndrome. Current gerontology and geriatrics research 2012 2012 361218. Lee Joseph H, Gurney Susan, Pang Deborah, Temkin Alexis, Park Naeun, Janicki Sarah C, Zigman Warren B, Silverman Wayne, Tycko Benjamin, Schupf Nico
Variants in CYP17 and CYP19 cytochrome P450 genes are associated with onset of Alzheimer's disease in women with down syndrome. Journal of Alzheimer's disease : JAD 2012 28 (3): 601-12. Chace Constance, Pang Deborah, Weng Catherine, Temkin Alexis, Lax Simon, Silverman Wayne, Zigman Warren, Ferin Michel, Lee Joseph H, Tycko Benjamin, Schupf Nico
Association of interleukin-1 polymorphisms with periodontitis in Down syndrome. Journal of oral science 2011 Jun 53 (2): 193-202. Khocht Ahmed, Heaney Kevin, Janal Malvin, Turner Bob
The first report described as an important study: The association of mannose-binding lectin gene 2 polymorphisms in children with Down syndrome. Indian journal of human genetics 2011 May 17 (2): 59-64. Demirhan Osman, Ta?temir Deniz, Güne?açar Ramazan, Güzel Ali ?rfan, Alptekin Dav
Association of variants within APOE, SORL1, RUNX1, BACE1 and ALDH18A1 with dementia in Alzheimer's disease in subjects with Down syndrome. Neuroscience letters 2011 Jan 487 (2): 144-8. Patel Ashok, Rees Simon D, Kelly M Ann, Bain Steven C, Barnett Anthony H, Thalitaya Deepak, Prasher Vee
Estrogen receptor-Beta variants are associated with increased risk of Alzheimer's disease in women with down syndrome. Dementia and geriatric cognitive disorders 2011 32 (4): 241-9. Zhao Qi, Lee Joseph H, Pang Deborah, Temkin Alexis, Park Naeun, Janicki Sarah C, Zigman Warren B, Silverman Wayne, Tycko Benjamin, Schupf Nico
Exploratory investigation on functional significance of ETS2 and SIM2 genes in Down syndrome. Disease markers 2011 31 (5): 247-57. Chatterjee Arpita, Dutta Samikshan, Sinha Swagata, Mukhopadhyay Kanch
Genetic screening. Epidemiologic reviews 2011 33 (1): 148-64. Burke Wylie, Tarini Beth, Press Nancy A, Evans James
MTHFR C677T and A1298C polymorphisms as a risk factor for congenital heart defects in Down syndrome. Pediatrics international : official journal of the Japan Pediatric Society 2010 Dec . Božovi? IB, Vranekovi? J, Cizmarevi? NS, Mahulja-Stamenkovi? V, Prpi? I, Brajenovi?-Mili? B
RFC - 1 Gene Polymorphism and the Risk of Down Syndrome in Romanian Population. Mædica 2010 Dec 5 (4): 280-5. Neagos Daniela, Cretu Ruxandra, Tutulan-Cunita Andreea, Stoian Veronica, Bohiltea Laurentiu Cam
Novel CRELD1 gene mutations in patients with atrioventricular septal defect. World journal of pediatrics : WJP 2010 Nov 6 (4): 348-52. Guo Ying, Shen Jie, Yuan Lang, Li Fen, Wang Jian, Sun K
Variation in folate pathway genes contributes to risk of congenital heart defects among individuals with Down syndrome. Genetic epidemiology 2010 Sep 34 (6): 613-23. Locke Adam E, Dooley Kenneth J, Tinker Stuart W, Cheong Soo Yeon, Feingold Eleanor, Allen Emily G, Freeman Sallie B, Torfs Claudine P, Cua Clifford L, Epstein Michael P, Wu Michael C, Lin Xihong, Capone George, Sherman Stephanie L, Bean Lora J
19-base pair deletion polymorphism of the dihydrofolate reductase (DHFR) gene: maternal risk of Down syndrome and folate metabolism. São Paulo medical journal = Revista paulista de medicina 2010 Jul 128 (4): 215-8. Mendes Cristiani Cortez, Biselli Joice Matos, Zampieri Bruna Lancia, Goloni-Bertollo Eny Maria, Eberlin Marcos Nogueira, Haddad Renato, Riccio Maria Francesca, Vannucchi Hélio, Carvalho Valdemir Melechco, Pavarino-Bertelli Erika Cristi
[Folate gene polymorphism and the risk of Down syndrome pregnancies in young Chinese women]. Yi chuan = Hereditas / Zhongguo yi chuan xue hui bian ji 2010 May 32 (5): 461-6. Liao Ya-Ping, Bao Ming-Sheng, Liu Chang-Qing, Liu Hui, Zhang Di
Comprehensive genotype-phenotype analysis in 230 patients with tetralogy of Fallot. Journal of medical genetics 2010 May 47 (5): 321-31. Rauch Ralf, Hofbeck Michael, Zweier Christiane, Koch Andreas, Zink Stefan, Trautmann Udo, Hoyer Juliane, Kaulitz Renate, Singer Helmut, Rauch Ani
Intestinal barrier gene variants may not explain the increased levels of antigliadin antibodies, suggesting other mechanisms than altered permeability. Human immunology 2010 Apr 71 (4): 392-6. Wolters Victorien M, Alizadeh Behrooz Z, Weijerman Michel E, Zhernakova Alexandra, van Hoogstraten Ingrid M W, Mearin M Luisa, Wapenaar Martin C, Wijmenga Cisca, Schreurs Marco W
New roles of EDNRB and EDN3 in the pathogenesis of Hirschsprung disease. Genetics in medicine : official journal of the American College of Medical Genetics 2010 Jan 12 (1): 39-43. Sánchez-Mejías Avencia, Fernández Raquel Maria, López-Alonso Manuel, Antiñolo Guillermo, Borrego Sal
An Intron 7 Polymorphism in APP Affects the Age of Onset of Dementia in Down Syndrome. International journal of Alzheimer's disease 2010 2011 929102. Jones Emma L, Ballard Clive G, Prasher Vee P, Arno Matthew, Tyrer Stephen, Moore Brian, Hanney Maria Lui
Functional inference of methylenetetrahydrofolate reductase gene polymorphisms on enzyme stability as a potential risk factor for Down syndrome in Croatia. Disease markers 2010 28 (5): 293-8. Vranekovi? Jadranka, Babi? Bozovi? Ivana, Starcevi? Cizmarevi? Nada, Bureti?-Tomljanovi? Alena, Risti? Smiljana, Petrovi? Oleg, Kapovi? Miljenko, Brajenovi?-Mili? Boja
Maternal gene polymorphisms involved in folate metabolism as risk factors for Down syndrome offspring in Southern Brazil. Disease markers 2010 29 (2): 95-101. Brandalize Ana Paula Carneiro, Bandinelli Eliane, Dos Santos Pollyanna Almeida, Schüler-Faccini Lavín
Evaluation of C677T and A1298C polymorphisms of the MTHFR gene as maternal risk factors for Down syndrome and congenital heart defects. American journal of medical genetics. Part A 2009 Oct 149A (10): 2080-7. Brandalize Ana Paula Carneiro, Bandinelli Eliane, dos Santos Pollyanna Almeida, Roisenberg Israel, Schüler-Faccini Lavín
Maternal polymorphisms for methyltetrahydrofolate reductase and methionine synthetase reductase and risk of children with Down syndrome. American journal of obstetrics and gynecology 2009 Jun 200 (6): 636.e1-6. Pozzi Elisa, Vergani Patrizia, Dalprà Leda, Combi Romina, Silvestri Daniela, Crosti Francesca, Dell'Orto Mariagrazia, Valsecchi Maria Graz
Interaction between a chromosome 10 RET enhancer and chromosome 21 in the Down syndrome-Hirschsprung disease association. Human mutation 2009 Mar . Arnold S, Pelet A, Amiel J, Borrego S, Hofstra R, Tam P, Ceccherini I, Lyonnet S, Sherman S, Chakravarti A
Prevalence and clinical correlates of JAK2 mutations in Down syndrome acute lymphoblastic leukaemia. British journal of haematology 2009 Mar 144 (6): 930-2. Gaikwad Amos, Rye Cassia L, Devidas Meenakshi, Heerema Nyla A, Carroll Andrew J, Izraeli Shai, Plon Sharon E, Basso Giuseppe, Pession Andrea, Rabin Karen
Amyloid beta concentrations in older people with Down syndrome and dementia. Neuroscience letters 2009 Feb 451 (2): 162-4. Jones Emma L, Hanney Marisa, Francis Paul T, Ballard Clive
Association of maternal polymorphisms in folate metabolizing genes with chromosome damage and risk of Down syndrome offspring. Neuroscience letters 2009 Jan 449 (1): 15-9. Coppedè Fabio, Migheli Francesca, Bargagna Stefania, Siciliano Gabriele, Antonucci Ivana, Stuppia Liborio, Palka Giandomenico, Migliore Luc
Splice variant IVS2-2A>G in the SLC26A5 (Prestin) gene in five Estonian families with hearing loss. International journal of pediatric otorhinolaryngology 2009 Jan 73 (1): 103-7. Teek Rita, Oitmaa Eneli, Kruustük Katrin, Zordania Riina, Joost Kairit, Raukas Elve, Tõnisson Neeme, Gardner Phyllis, Schrijver Iris, Kull Mart, Ounap Katr
[Gene polymorphisms in patients with Down's syndrome]. Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova / Ministerstvo zdravookhraneniia i meditsinsko? promyshlennosti Rossi?sko? Federatsii, Vserossi?skoe obshchestvo nevrologov [i] Vserossi?skoe obshchestvo psikhiatrov 2009 109 (4): 50-4. Kuz'mina N S, Ushenkova L I, Shagirova Zh M, She?khaev G O, Mikha?lov V F, Kurbatova L A, Mazurik V K, Rubanovich A V, Zasukhina G
Investigating the impact of the Down syndrome related common MTHFR 677C>T polymorphism in the Danish population. Disease markers 2009 27 (6): 279-85. Kokotas Haris, Grigoriadou Maria, Mikkelsen Margareta, Giannoulia-Karantana Aglaia, Petersen Michael
Investigation of CBS, MTR, RFC-1 and TC polymorphisms as maternal risk factors for Down syndrome. Disease markers 2009 26 (4): 155-61. Fintelman-Rodrigues N, Corrêa J C, Santos J M, Pimentel M M G, Santos-Rebouças C
MTHFR 677C-->T and 1298A-->C polymorphisms in children with Down syndrome and acute myeloid leukemia in Brazil. Pediatric hematology and oncology 2008 Dec 25 (8): 744-50. Amorim Marcia R, Zanrosso Crisiane Wais, Magalhães Isis Q, Pereira Simone C, Figueiredo Alexandre, Emerenciano Mariana, Pinheiro Vitoria Regia, d'Andréa Maria Lydia, Orioli Ieda M, Koifman Sergio, Pombo-de-Oliveira Maria