Human Genome Epidemiology Literature Finder
Records 1 - 30 (of 41 Records) |
Query Trace: GALT[original query] |
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Screening of the galactose-1-phosphate uridyltransferase gene in Indian women with ovarian failure. Reproductive biomedicine online 2005 Oct 11 (4): 444-8. Kumar K Anil, Rao K Lakshmi, Vedula Suryanarayana V, Kanakavalli M K, Vaddamani Padmalatha V, Deendayal Mamta, Gupta Nalini, Chakravarthy B N, Singh Lal |
No association of endometriosis with galactose-1-phosphate uridyl transferase mutations in a Chinese population. Environmental and molecular mutagenesis 2006 May 47 (4): 307-9. He Chunni, Song Yanfeng, He Xiaoyu, Zhang Wenju, Liao Lianmi |
Combination of enzyme analysis, allele-specific PCR and sequencing to detect mutations in the GALT gene. Journal of inherited metabolic disease 2007 Oct 30 (5): 818. Calderon F R O, Nelson L, Dobrowolski P, Sinitsyna I, Phansalkar A, Longo N, Pasquali M, Mao |
Heterozygosity for the classical galactosemia mutation does not affect ovarian reserve and menopausal age. Reproductive sciences (Thousand Oaks, Calif.) 2007 Dec 14 (8): 780-5. Knauff Erik A H, Richardus Renate, Eijkemans Marinus J, Broekmans Frank J, de Jong Frank J, Fauser Bart C J M, Bosch Annet |
Synergistic effect of high lactase activity genotype and galactose-1-phosphate uridyl transferase (GALT) mutations on idiopathic presenile cataract formation. Clinical biochemistry 2008 Jul 41 (10-11): 869-74. Karas-Kuzelicki Natasa, Pfeifer Vladimir, Lukac-Bajalo Ja |
[Frequencies of the Los Angeles and Duarte galactose-1-phosphate uridyltransferase variant alleles in the Hungarian population]. Orvosi hetilap 2009 Jul 150 (28): 1301-5. Milánkovics Ilona, Schuler Agnes, Németh Krisztina, Somogyi Csilla, Fekete Györ |
Molecular and biochemical characterization of the GALT gene in Korean patients with galactose-1-phosphate uridyltransferase deficiency. Clinica chimica acta; international journal of clinical chemistry 2010 Oct 411 (19-20): 1506-10. Ko Dae-Hyun, Chang Ho Eun, Song Sang Hoon, Park Kyoung Un, Kim Jin Q, Kim Min-Chang, Song Young-Han, Hong Yong Hee, Lee Dong Hwan, Song Jungh |
The GALT rush: high carrier frequency of an unusual deletion mutation of the GALT gene in the Ashkenazi population. Molecular genetics and metabolism 2011 Feb 102 (2): 157-60. Goldstein Nurit, Cohen Yoram, Pode-Shakked Ben, Sigalov Ekaterina, Vilensky Bela, Peleg Leah, Anikster Ya |
Detection of common mutations in the GALT gene through ARMS. Gene 2012 Nov 509 (2): 291-4. Mahmood Umair, Imran Muhammad, Naik Salma Iqbal, Cheema Huma Arshad, Saeed Anjum, Arshad Muhammad, Mahmood Saq |
Duarte galactose-1-phosphate uridyl transferase genotypes are not associated with ovarian cancer risk. Fertility and sterility 2012 Sep 98 (3): 687-91. Merritt Melissa A, Kotsopoulos Joanne, Cramer Daniel W, Hankinson Susan E, Terry Kathryn L, Tworoger Shelley |
Frequency distribution of Q188R, N314D, Duarte 1, and Duarte 2 GALT variant alleles in an Indian galactosemia population. Biochemical genetics 2012 Jul . Singh R, Thapa BR, Kaur G, Prasad R |
Biochemical and molecular characterization of GALT gene from Indian galactosemia patients: identification of 10 novel mutations and their structural and functional implications. Clinica chimica acta; international journal of clinical chemistry 2012 Dec 414 191-6. Singh Ramandeep, Thapa Babu R, Kaur Gurjit, Prasad Rajend |
Galactosemia in the Turkish population with a high frequency of Q188R mutation and distribution of Duarte-1 and Duarte-2 variations. Journal of human genetics 2013 Oct 58 (10): 675-8. Özgül R?za Köksal, Güzel-Ozantürk Ay?egül, Dündar Halil, Yücel-Y?lmaz Didem, Co?kun Turgay, Sivri Serap, Aydo?du Sultan, Tokatl? Ay?egül, Dursun A |
Identification of galactose-1-phosphate uridyl transferase gene common mutations in dried blood spots. Clinica chimica acta; international journal of clinical chemistry 2014 Sep 436 298-302. Sartippour Maryam R, Doroudian Roya, Frampton Gordon, Lorey Fred, Helmer George, Ho Thomson, Bhandal Aj |
Associations of Polymorphisms in WNT9B and PBX1 with Mayer-Rokitansky-Küster-Hauser Syndrome in Chinese Han. PloS one 2015 10 (6): e0130202. Ma Wenqing, Li Ya, Wang Man, Li Haixia, Su Tiefen, Li Yan, Wang Shixu |
Genetic and functional studies reveal a novel noncoding variant in GALT associated with a false positive newborn screening result for galactosemia. Clinica chimica acta; international journal of clinical chemistry 2015 Jun 446 171-4. Liu Ying, Sidhu Alpa, Bean Lora H, Conway Robert L, Fridovich-Keil Judith |
Identification of Multiple Gene Mutations Accounts for a new Genetic Architecture of Primary Ovarian Insufficiency. The Journal of clinical endocrinology and metabolism 2016 Sep jc20162152. Bouilly Justine, Beau Isabelle, Barraud Sara, Bernard Valérie, Azibi Kemal, Fagart Jérôme, Fèvre Anne, Todeschini Anne Laure, Veitia Reiner A, Beldjord Chérif, Delemer Brigitte, Dodé Catherine, Young Jacques, Binart Nadi |
Association of presenile cataract with galactose-1-phosphate uridyl transferase gene mutations. The National medical journal of India 0 30 (2): 73-75. Nema Nitin, Kumar Ravindra, Verma Abha, Verma Sonam, Chaturvedi Kir |
Compound heterozygosity with a novel S222N GALT mutation leads to atypical galactosemia with loss of GALT activity in erythrocytes but little evidence of clinical disease. Molecular genetics and metabolism reports 2017 6 2 61-64. Cocanougher Benjamin, Aypar Umut, McDonald Amber, Hasadsri Linda, Bennett Michael J, Edward Highsmith W, D'Aco Krist |
Mutational analysis of GALT gene in Greek patients with galactosaemia: identification of two novel mutations and clinical evaluation. Scandinavian journal of clinical and laboratory investigation 2017 Oct 77 (6): 423-427. Schulpis Kleopatra H, Thodi Georgia, Iakovou Konstantinos, Chatzidaki Maria, Dotsikas Yannis, Molou Elina, Triantafylli Olga, Loukas Yannis |
Molecular basis and clinical presentation of classic galactosemia in a Croatian population. Journal of pediatric endocrinology & metabolism : JPEM 2017 12 31 (1): 71-75. Ramadža Danijela Petkovi?, Sarnavka Vladimir, Vukovi? Jurica, Fumi? Ksenija, Krželj Vjekoslav, Lozi? Bernarda, Pušelji? Silvija, Pereira Hana, Silva Maria João, Tavares de Almeida Isabel, Bari? Ivo, Rivera Isab |
Heterogeneity of disease-causing variants in the Swedish galactosemia population: Identification of 16 novel GALT variants. Journal of inherited metabolic disease 2019 Jun . Ohlsson Annika, Hunt Mary, Wedell Anna, von Döbeln Ulri |
Classic galactosaemia in the Greek Cypriot population: An epidemiological and molecular study. Annals of human genetics 2019 Apr . Papachristoforou Rena, Petrou Petros P, Sawyer Hilary, Williams Maggie, Drousiotou Ant |
The 1- C galactose breath test in GALT deficient patients distinguishes NBS detected variant patients but does not predict outcome in classical phenotypes. Journal of inherited metabolic disease 2019 12 43 (3): 507-517. Welsink-Karssies Mendy M, van Harskamp Dewi, Ferdinandusse Sacha, Hollak Carla E M, Huidekoper Hidde H, Janssen Mirian C H, Kemper E Marleen, Langendonk Janneke G, Rubio-Gozalbo M Estela, de Vries Maaike C, Wijburg Frits A, Schierbeek Henk, Bosch Annet |
A founder noncoding GALT variant interfering with splicing causes galactosemia. Journal of inherited metabolic disease 2020 8 43 (6): 1199-1204. Latchman Kumarie, Brown Jeanette, Sineni Claire J, Ragin-Dames Lorrien, Guo Shengru, Huang Jingyu, Thorson Willa, Hacker Stephanie, Barbouth Deborah, Tekin Mustafa, Bademci Gun |
Assessment of candidate variants causative of inborn metabolic diseases in SUDI cases in South Africa, and a case report. International journal of legal medicine 2020 6 134 (5): 1639-1645. Heathfield Laura Jane, Bhengu Wenelisile, Louw Susan, Martin Lorna Jean, Ramesar R |
The Discovery of GALM Deficiency (Type IV Galactosemia) and Newborn Screening System for Galactosemia in Japan. International journal of neonatal screening 2021 Oct 7 (4): . Kikuchi Atsuo, Wada Yoichi, Ohura Toshihiro, Kure Shig |
Identification of incompletely penetrant variants and interallelic interactions in autosomal recessive disorders by a population-genetic approach. Human mutation 2021 Aug . Mikó Ágnes, Kaposi Ambrus, Schnabel Karolina, Seidl Dániel, Tory Kálm |
Novel GALT variations and genetic spectrum in Turkish population with the correlation of genotype and phenotype. Annals of human genetics 2023 8 . Irem Kalay, Cagri Gulec, Mehmet Cihan Balc?, Guven Toksoy, Gulden Gokcay, Seher Basaran, Mubeccel Demirkol, Zehra Oya Uygun |
Screening of premature ovarian insufficiency associated genes in Hungarian patients with next generation sequencing. BMC medical genomics 2024 4 17 (1): 98. Anett Illés, Henriett Pikó, Kristóf Árvai, Veronika Donka, Olívia Szepesi, János Kósa, Péter Lakatos, Artúr Be |
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- Page last updated:Apr 29, 2024
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