HuGE Literature Finder
Records 1-19
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Prenatal Screening and Diagnosis of ß-Thalassemia in India: Is ARMS-PCR Enough?
Indian journal of hematology & blood transfusion : an official journal of Indian Society of Hematology and Blood Transfusion 2021 Jul 37 (3): 448-452. Ghosh Shouriyo, Chakrabarti Sila, Bhattacharyya Maitrey |
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Utility of noninvasive genome-wide screening: a prospective cohort of obstetric patients undergoing diagnostic testing.
Genetics in medicine : official journal of the American College of Medical Genetics 2021 Mar . Guseh Stephanie, Wilkins-Haug Louise, Kaimal Anjali, Dunn-Albanese Lisa, Adams Sophie, Carroll Sarah, Discenza Marie, Dobson Lori, Brillinger Marney, Foster Judith, Gbur Samantha, Green Hayley, Herrig Nancy, Mandigo Chelsea, Pacione Michelle, Roberts Penelope, Sassaman Abigail, Steinberg Kathleen, Studwell Courtney, Gray Kathryn |
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Clinical Utility of SNP Array Analysis in Prenatal Diagnosis: A Cohort Study of 5000 Pregnancies.
Frontiers in genetics 2020 11 571219. Xiang Jingjing, Ding Yang, Song Xiaoyan, Mao Jun, Liu Minjuan, Liu Yinghua, Huang Chao, Zhang Qin, Wang Ti |
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Chromosomal microarray analysis for pregnancies with or without ultrasound abnormalities in women of advanced maternal age.
Journal of clinical laboratory analysis 2019 Nov . Wu Xiaoqing, An Gang, Xie Xiaorui, Su Linjuan, Cai Meiying, Chen Xuemei, Li Ying, Lin Na, He Deqin, Wang Meiying, Huang Hailong, Xu Liang |
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Homozygosity mapping guided next generation sequencing to identify the causative genetic variation in inherited retinal degenerative diseases.
Journal of human genetics 2016 Jul . Sundaramurthy Srilekha, Swaminathan Meenakshi, Sen Parveen, Arokiasamy Tharigopala, Deshpande Swati, John Neetha, Gadkari Rupali A, Mannan Ashraf U, Soumittra Nagasa |
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Cystic Fibrosis: A Review of Associated Phenotypes, Use of Molecular Diagnostic Approaches, Genetic Characteristics, Progress, and Dilemmas.
The Journal of molecular diagnostics : JMD 2015 Nov . Brennan Marie-Luise, Schrijver Ir |
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Common mutation causes cystinosis in the majority of black South African patients.
Pediatric nephrology (Berlin, Germany) 2015 Apr 30 (4): 595-601. Owen E Patricia, Nandhlal Jenisha, Leisegang Felicity, Van der Watt George, Nourse Peter, Gajjar Pri |
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Expanding the scope of noninvasive prenatal testing: detection of fetal microdeletion syndromes.
American journal of obstetrics and gynecology 2015 Mar 212 (3): 332.e1-9. Wapner Ronald J, Babiarz Joshua E, Levy Brynn, Stosic Melissa, Zimmermann Bernhard, Sigurjonsson Styrmir, Wayham Nicholas, Ryan Allison, Banjevic Milena, Lacroute Phil, Hu Jing, Hall Megan P, Demko Zachary, Siddiqui Asim, Rabinowitz Matthew, Gross Susan J, Hill Matthew, Benn Pet |
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The First Case Report in Italy of Di George Syndrome Detected by Noninvasive Prenatal Testing.
Case reports in obstetrics and gynecology 2015 2015 813104. Rapacchia Giuseppina, Lapucci Cristina, Pittalis Maria Carla, Youssef Aly, Farina Anton |
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Genotype and clinical care correlations in craniosynostosis: findings from a cohort of 630 Australian and New Zealand patients.
American journal of medical genetics. Part C, Seminars in medical genetics 2013 Nov 163C (4): 259-70. Roscioli T, Elakis G, Cox T C, Moon D J, Venselaar H, Turner A M, Le T, Hackett E, Haan E, Colley A, Mowat D, Worgan L, Kirk E P, Sachdev R, Thompson E, Gabbett M, McGaughran J, Gibson K, Gattas M, Freckmann M-L, Dixon J, Hoefsloot L, Field M, Hackett A, Kamien B, Edwards M, Adès L C, Collins F A, Wilson M J, Savarirayan R, Tan T Y, Amor D J, McGillivray G, White S M, Glass I A, David D J, Anderson P J, Gianoutsos M, Buckley M |
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Molecular epidemiology and functional assessment of novel allelic variants of SLC26A4 in non-syndromic hearing loss patients with enlarged vestibular aqueduct in China.
PloS one 2012 7 (11): 11. Yuan Y, Guo W, Tang J, Zhang G, Wang G, Han M, Zhang X, Yang S, He DZ, Dai P |
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Attitudes and beliefs of African-Americans toward genetics, genetic testing, and sickle cell disease education and awareness.
Journal of genetic counseling 2011 Dec 20 (6): 572-92. Long Katie A, Thomas Stephen B, Grubs Robin E, Gettig Elizabeth A, Krishnamurti Lakshman |
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Cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations and risk for pancreatic adenocarcinoma.
Cancer 2010 Jan 116 (1): 203-9. McWilliams Robert R, Petersen Gloria M, Rabe Kari G, Holtegaard Leonard M, Lynch Pamela J, Bishop Michele D, Highsmith W Edwa |
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Outcomes of a cystic fibrosis carrier testing clinic for couples.
The Medical journal of Australia 2009 Nov 191 (9): 499-501. Christie Louise M, Ingrey Angela J, Turner Gillian M, Proos Anne L, Watts Gloria |
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Carrier frequency of SMA by quantitative analysis of the SMN1 deletion in the Iranian population.
European journal of neurology : the official journal of the European Federation of Neurological Societies 2009 Jun . Hasanzad M, Azad M, Kahrizi K, Saffar BS, Nafisi S, Keyhanidoust Z, Azimian M, Refah AA, Also E, Urtizberea JA, Tizzano EF, Najmabadi H |
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Clinical utility of the ABCR400 microarray: basing a genetic service on a commercial gene chip.
Archives of ophthalmology (Chicago, Ill. : 1960) 2009 Apr 127 (4): 549-54. Roberts Lisa J, Ramesar Rajkumar S, Greenberg Jacqu |
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beta-Thalassemia mutations in the Iranian Kurdish population of Kurdistan and West Azerbaijan provinces.
Hemoglobin 2009 33 (2): 109-14. Haghi Mehdi, Khorshidi Shohre, Hosseinpour Feizi Mohammad Ali, Pouladi Nasser, Hosseinpour Feizi Abbas |
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A disease causing deletion of 29 base pairs in intron 15 in the MKS1 gene is highly associated with the campomelic variant of the Meckel-Gruber syndrome.
Clinical genetics 2007 Nov 72 (5): 454-9. Auber B, Burfeind P, Herold S, Schoner K, Simson G, Rauskolb R, Rehder |
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The prevalence and spectrum of thalassemia in Shenzhen, Guangdong Province, People's Republic of China.
Hemoglobin 2006 30 (1): 9-14. Li Zesong, Li Fangfang, Li Ming, Guo Runjun, Zhang W |
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- Page last updated:Jul 27, 2021
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