Human Genome Epidemiology Literature Finder
Rare Diseases
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Records 1 - 30 (of 63 Records) |
| Query Trace: Turner Syndrome[original query] |
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| Autosomal and X chromosome structural variants are associated with congenital heart defects in Turner syndrome: The NHLBI GenTAC registry. American journal of medical genetics. Part A 2016 Sep . Prakash Siddharth K, Bondy Carolyn A, Maslen Cheryl L, Silberbach Michael, Lin Angela E, Perrone Laura, Limongelli Giuseppe, Michelena Hector I, Bossone Eduardo, Citro Rodolfo, , Lemaire Scott A, Body Simon C, Milewicz Dianna |
| [The prevalence of SHOX gene deletion in children with idiopathic short stature. A multicentric study]. Orvosi hetilap 2017 8 158 (34): 1351-1356. Dávid Anna, Butz Henriett, Halász Zita, Török Dóra, Nyir? Gábor, Muzsnai Ágota, Csákváry Violetta, Luczay Andrea, Sallai Ágnes, Hosszú Éva, Felszeghy Enik?, Tar Attila, Szántó Zsuzsanna, Fekete Gy László, Kun Imre, Patócs Attila, Bertalan Ri |
| Analysis of PTPN22, ZFAT and MYO9B polymorphisms in Turner Syndrome and risk of autoimmune disease. International journal of immunogenetics 2017 Jun . Villanueva-Ortega E, Ahedo B, Fonseca-Sánchez M A, Pérez-Durán J, Garibay-Nieto N, Macías-Galavíz M T, Trujillo-Cabrera Y, García-Latorre E, Queipo |
| Analyses of karyotype by G-banding and high-resolution microarrays in a gender dysphoria population. Genes & genomics 2018 May 40 (5): 465-473. Fernández Rosa, Guillamón Antonio, Gómez-Gil Esther, Esteva Isabel, Almaraz Mari Cruz, Cortés-Cortés Joselyn, Lamas Beatriz, Lema Estefanía, Pásaro Eduar |
| Prevalence of diverse complications and its association with karyotypes in Japanese adult women with Turner syndrome-a questionnaire survey by the Foundation for Growth Science. Endocrine journal 2018 3 65 (5): 509-519. Hanew Kunihiko, Tanaka Toshiaki, Horikawa Reiko, Hasegawa Tomonobu, Yokoya Susu |
| CTLA-4 gene polymorphisms are associated with obesity in Turner Syndrome. Genetics and molecular biology 0 41 (4): 727-734. Santos Luana Oliveira Dos, Bispo Adriana Valéria Sales, Barros Juliana Vieira de, Laranjeira Raysa Samanta Moraes, Pinto Rafaella do Nascimento, Silva Jaqueline de Azevêdo, Duarte Andréa de Rezende, Araújo Jacqueline, Sandrin-Garcia Paula, Crovella Sergio, Bezerra Marcos André Cavalcanti, Belmont Taciana Furtado de Mendonça, Cavalcanti Maria do Socorro, Santos Nei |
| Rare copy number variants in the genome of Chinese female children and adolescents with Turner syndrome. Bioscience reports 2018 12 39 (1): . Li Li, Li Qingfeng, Wang Qiong, Liu Li, Li Ru, Liu Huishu, He Yaojuan, Lash Gendie |
| [Analysis of the influencing factors of recombinant human growth hormone effect in the children with Turner syndrome]. Zhonghua er ke za zhi = Chinese journal of pediatrics 2018 11 56 (11): 866-870. Li J, Wu W, Liang Y, Luo X |
| TIMP3 and TIMP1 are risk genes for bicuspid aortic valve and aortopathy in Turner syndrome. PLoS genetics 2018 Oct 14 (10): e1007692. Corbitt Holly, Morris Shaine A, Gravholt Claus H, Mortensen Kristian H, Tippner-Hedges Rebecca, Silberbach Michael, Maslen Cheryl L, |
| Phenotype in girls and women with Turner syndrome: Association between dysmorphic features, karyotype and cardio-aortic malformations. European journal of medical genetics 2018 1 61 (6): 301-306. Noordman Iris, Duijnhouwer Anthonie, Kapusta Livia, Kempers Marlies, Roeleveld Nel, Schokking Michiel, Smeets Dominique, Freriks Kim, Timmers Henri, van Alfen-van der Velden Janiël |
| The genetic basis of Turner syndrome aortopathy. American journal of medical genetics. Part C, Seminars in medical genetics 2019 Feb . Corbitt Holly, Gutierrez Jacob, Silberbach Michael, Maslen Cheryl |
| Vitamin D receptor (VDR) gene polymorphisms and expression profile influence upon the immunological imbalance in Turner syndrome. Journal of endocrinological investigation 2019 Nov . Santos L O, Laranjeira R, Borborema M E B de A, Sotero-Caio C G, Duarte A de R, Araújo J, de Azevedo Silva J, Santos |
| Impact of parental origin of X-chromosome on clinical and biochemical profile in Turner syndrome. Journal of pediatric endocrinology & metabolism : JPEM 2020 8 33 (9): 1155-1163. Malhotra Rakhi, Shukla Rashmi, Kabra Madhulika, Gupta Yashdeep, Jyotsna Viveka P, Khadgawat Raje |
| Losing maleness: Somatic Y chromosome loss at every stage of a man's life. FASEB bioAdvances 2020 3 1 (6): 350-352. Miyado Mami, Fukami Ma |
| Short stature and SHOX (Short stature homeobox) variants-efficacy of screening using various strategies. PeerJ 2020 11 8 e10236. Capkova Pavlina, Capkova Zuzana, Rohon Peter, Adamová Katerina, Zapletalova Jiri |
| A large cohort of disorders of sex development and their genetic characteristics: 6 novel mutations in known genes. European journal of medical genetics 2021 1 64 (3): 104154. Ata Aysun, Özen Samim, Onay Hüseyin, Uzun Selin, Gök?en Damla, Özk?nay Ferda, Özbaran Nazl? Burcu, Ulman ?brahim, Darcan ?ükr |
| Chromosomal Numerical Aberrations and Rare Copy Number Variation in Patients with Inflammatory Bowel Disease. Journal of Crohn's & colitis 2022 Jul . Dirvanskyte Paulina, Gurram Bhaskar, Bolton Chrissy, Warner Neil, Jones Kelsey D J, Griffin Helen R, , Park Jason Y, Keller Klaus-Michael, Gilmour Kimberly C, Hambleton Sophie, Muise Aleixo M, Wysocki Christian, Uhlig Holm |
| Disorders of Sex Development in a Large Ukrainian Cohort: Clinical Diversity and Genetic Findings. Frontiers in endocrinology 2022 4 13 810782. Globa Evgenia, Zelinska Natalia, Shcherbak Yulia, Bignon-Topalovic Joelle, Bashamboo Anu, M?Elreavey K |
| Different effects of maternal homocysteine concentration, MTHFR and MTRR genetic polymorphisms on the occurrence of fetal aneuploidy. Reproductive biomedicine online 2022 Jul . Guo Qian-Nan, Wang Ling, Liu Zheng-Yan, Wang Hong-Dan, Wang Li, Long Jian-Gang, Liao Shi-X |
| Cytogenetic screening of chromosomal abnormalities and genetic analysis of FSH receptor Ala307Thr and Ser680Asn genes in amenorrheic patients. PeerJ 2023 5 11 e15267. Bushra A Kanaan, Mushtak T S Al-Ouqaili, Rafal M Mursh |
| The TGF? system and TIMP1 and 3 genotypes in Turner syndrome-Relation with aortic congenital malformations. Clinical endocrinology 2023 3 . Ridder Lukas Ochsner, Stochholm Kirstine, Mortensen Kristian Havmand, Andersen Niels Holmark, Gravholt Claus Højbje |
| Hidden Y Chromosome Material and Congenital Cardiovascular Malformations in a cohort of Turner Syndrome patients with 45,X blood karyotype. Cytogenetic and genome research 2023 12 . Emediong Q Udo, Tate Truly, Andrew Peters, Siddharth K Prakash, Michelle Rivera, David Felipe Rodriguez-Buriti |
| Case Report: Solid variant of papillary thyroid carcinoma in a young adult with Turner syndrome with chronic thyroiditis. Frontiers in oncology 2023 11 13 1150002. Daichi Murakami, Masayoshi Hijiya, Takuro Iyo, Sachiko Hayata, Takashi Ozaki, Keisuke Enomoto, Masamitsu Kono, Shunji Tamagawa, Muneki Hoto |
| Analysis of genetic variability in Turner syndrome linked to long-term clinical features. Frontiers in endocrinology 2023 10 14 1227164. Jenifer P Suntharalingham, Miho Ishida, Antoinette Cameron-Pimblett, Sinead M McGlacken-Byrne, Federica Buonocore, Ignacio Del Valle, Gaganjit Kaur Madhan, Tony Brooks, Gerard S Conway, John C Acherma |
| Association of rare variants in RNF213 with severe progression of intracranial artery stenosis in quasi-moyamoya disease. Journal of neurosurgery 2024 9 1-10. Seiei Torazawa, Satoru Miyawaki, Hideaki Imai, Hiroki Hongo, Daiichiro Ishigami, Masahiro Shimizu, Yu Sakai, Shotaro Ogawa, Satoshi Kiyofuji, Satoshi Koizumi, Daisuke Komura, Hiroto Katoh, Hideaki Ono, Hirofumi Nakatomi, Shumpei Ishikawa, Nobuhito Sai |
| Characterization of Turner Syndrome-associated diabetes mellitus. The Journal of clinical endocrinology and metabolism 2024 7 . Antoinette Cameron-Pimblett, Clementina La Rosa, Melanie C Davies, Jenifer P Suntharalingham, Miho Ishida, John C Achermann, Gerard S Conw |
| Prenatal diagnosis and genetic analysis of small supernumerary marker chromosomes in the eastern chinese han population: A retrospective study of 36 cases. Chromosome research : an international journal on the molecular, supramolecular and evolutionary aspects of chromosome biology 2024 7 32 (3): 9. Xiali Jiang, Bin Liang, Bilian Chen, Xiaoqing Wu, Yan Wang, Na Lin, Hailong Huang, Liangpu |
| The Influence of X Chromosome Parent-of-Origin on Glycemia in Individuals with Turner syndrome. Hormone research in paediatrics 2024 11 1-15. Catherina T Pinnaro, Blake Irvin Zimmerman, Kelli K Ryckman, Benjamin W Darbro, Andrew W Norr |
| Investigating the influence of inflammasome complex genes on Turner syndrome. Human immunology 2024 10 85 (6): 111164. Raysa Samanta Moraes Laranjeira, Maria Eduarda de Albuquerque Borborema, Aldianne Milene Dos Santos Barbosa, Juliana Vieira de Barros Arcoverde, Camilla Albertina Dantas de Lima, Andréa de Rezende Duarte, Barbara Guiomar Sales Gomes da Silva, Jaqueline de Azevêdo Silva, Neide Sant |
| First report on chromosomal abnormalities in Eastern Morocco: Identification of a new case of a de novo partial trisomy 13q using single-nucleotide polymorphism array. Archives de pediatrie : organe officiel de la Societe francaise de pediatrie 2024 1 . Manal Elidrissi Errahhali, Mounia Elidrissi Errahhali, Sara Ramdani, Saida Lhousni, Noufissa Benajiba, Maria Rkain, Abdeladim Babakhouya, Aziza Elouali, Ayad Ghanam, Rim Amrani, Sahar Messaoudi, Anass Ayyad, Bouchra Oneib, Ahmed Mimouni, Hanane Saadi, Sanae Allaoui, Meryem Ouarzane, Agnès Guichet, Majida Charif, Redouane Boulouiz, Mohammed Bellao |
- Page last reviewed:Feb 1, 2024
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