Loading…
Clinical Utility of Methylation-Specific Multiplex Ligation-Dependent Probe Amplification for the Diagnosis of Prader–Willi Syndrome and Angelman Syndrome
Kim, Boram, Park, Yongsook, Cho, Sung Im, Kim, Man Jin, Chae, Jong-Hee, Kim, Ji Yeon, Seong, Moon-Woo, Park, Sung Sup
Published in Annals of laboratory medicine (01.01.2022)
Published in Annals of laboratory medicine (01.01.2022)
Get full text
Journal Article
Loading…
A Pilot Study of Multiplex Ligation-Dependent Probe Amplification Evaluation of Copy Number Variations in Romanian Children with Congenital Heart Defects
Bolunduț, Alexandru Cristian, Nazarie, Florina, Lazea, Cecilia, Șufană, Crina, Miclea, Diana, Lazăr, Călin, Mihu, Carmen Mihaela
Published in Genes (05.02.2024)
Published in Genes (05.02.2024)
Get full text
Journal Article
Loading…
Multiplex ligation‐dependent probe amplification screening of isolated increased HbF levels revealed three cases of novel rearrangements/deletions in the β‐globin gene cluster
Lee, Seung‐Tae, Yoo, Eun‐Hyung, Kim, Ji‐Youn, Kim, Jong‐Won, Ki, Chang‐Seok
Published in British journal of haematology (01.01.2010)
Published in British journal of haematology (01.01.2010)
Get full text
Journal Article
Loading…
Multiplex Ligation-Dependent Probe Amplification in X-linked Recessive Muscular Dystrophy in Korean Subjects
Suh, Mi Ri, Lee, Kyung-A, Kim, Eun Young, Jung, Jiho, Choi, Won Ah, Kang, Seong-Woong
Published in Yonsei medical journal (01.05.2017)
Published in Yonsei medical journal (01.05.2017)
Get full text
Journal Article
Loading…
Multiplex ligation-dependent probe amplification copy number variant analysis in patients with acquired long QT syndrome
Williams, Victoria S., Cresswell, Carl J., Ruspi, Gerhard, Yang, Tao, Atak, Thomas C., McLoughlin, Matthew, Ingram, Christiana D., Ramirez, Andrea H., Roden, Dan, Armstrong, Martin
Published in Europace (London, England) (01.04.2015)
Published in Europace (London, England) (01.04.2015)
Get full text
Journal Article
Loading…
Improved Multiplex Ligation-dependent Probe Amplification (i-MLPA) for rapid copy number variant (CNV) detection
Saxena, Sonal, Gowdhaman, Kavitha, Kkani, Poornima, Vennapusa, Bhavyasri, Rama Subramanian, Chellamuthu, Ganesh Kumar, S., Mohan, Kommu Naga
Published in Clinica chimica acta (23.10.2015)
Published in Clinica chimica acta (23.10.2015)
Get full text
Journal Article
Loading…
Loading…
Multiplex Ligation-Dependent Probe Amplification Accurately Detects Turner Syndrome in Girls with Short Stature
Grandone, Anna, Del Vecchio Blanco, Francesca, Torella, Annalaura, Caruso, Manuela, De Luca, Filippo, Di Mase, Raffaella, Messina, Maria Francesca, Salerno, Maria Carolina, Sallemi, Alessia, Perone, Lucia, Marzuillo, Pierluigi, Miraglia Del Giudice, Emanuele, Nigro, Vincenzo, Perrone, Laura
Published in Hormone research in paediatrics (01.01.2016)
Published in Hormone research in paediatrics (01.01.2016)
Get more information
Journal Article
Loading…
The importance of the multiplex ligation-dependent probe amplification in the identification of a novel two-exon deletion of the NR5A1 gene in a patient with 46,XY differences of sex development
Nagy, Orsolya, Kárteszi, Judit, Hartwig, Marianna, Bertalan, Rita, Jávorszky, Eszter, Erhardt, Éva, Patócs, Attila, Tornóczky, Tamás, Balogh, István, Ujfalusi, Anikó
Published in Molecular biology reports (01.10.2019)
Published in Molecular biology reports (01.10.2019)
Get full text
Journal Article
Loading…
ANALYSIS OF GENE COPY NUMBER VARIATIONS IN PATIENTS WITH CARDIAC SEPTAL DEFECTS USING MULTIPLEX LIGATION-DEPENDENT PROBE AMPLIFICATION
YASHVANTHI BORKAR, KRISHNANANDA NAYAK, RANJAN SHETTY K, RAJASEKHAR MOKA
Published in Asian journal of pharmaceutical and clinical research (16.11.2019)
Published in Asian journal of pharmaceutical and clinical research (16.11.2019)
Get full text
Journal Article
Loading…
Loading…
Multiplex ligation-dependent probe amplification (MLPA) assay for the detection of CYP21A2 gene deletions/duplications in Congenital Adrenal Hyperplasia: First technical report
Concolino, Paola, Mello, Enrica, Toscano, Vincenzo, Ameglio, Franco, Zuppi, Cecilia, Capoluongo, Ettore
Published in Clinica chimica acta (01.04.2009)
Published in Clinica chimica acta (01.04.2009)
Get full text
Journal Article
Loading…
Identification of deletions in children with congenital hypothyroidism and thyroid dysgenesis with the use of multiplex ligation-dependent probe amplification
Kumorowicz-Czoch, Malgorzata, Madetko-Talowska, Anna, Tylek-Lemanska, Dorota, Pietrzyk, Jacek J., Starzyk, Jerzy
Published in Journal of Pediatric Endocrinology & Metabolism (01.01.2015)
Published in Journal of Pediatric Endocrinology & Metabolism (01.01.2015)
Get full text
Journal Article
Loading…
Genomic imbalance in subjects with idiopathic intellectual disability detected by multiplex ligation-dependent probe amplification
MOHAN, SHRUTHI, VENKATESAN, VETTRISELVI, PAUL, SOLOMON FD, KOSHY, TEENA, PERUMAL, VENKATACHALAM
Published in Journal of genetics (01.06.2016)
Published in Journal of genetics (01.06.2016)
Get full text
Journal Article
Loading…
Methylation-specific multiplex ligation-dependent probe amplification and identification of deletion genetic subtypes in Prader-Willi syndrome
Henkhaus, Rebecca S, Kim, Soo-Jeong, Kimonis, Virginia E, Gold, June-Anne, Dykens, Elisabeth M, Driscoll, Daniel J, Butler, Merlin G
Published in Genetic testing and molecular biomarkers (01.03.2012)
Published in Genetic testing and molecular biomarkers (01.03.2012)
Get more information
Journal Article
Loading…
Loading…
Identification of mutations in the F9 gene including exon deletion by multiplex ligation-dependent probe amplification in 33 unrelated Korean patients with haemophilia B
KWON, M.-J., YOO, K.-Y., KIM, H.-J., KIM, S.-H.
Published in Haemophilia : the official journal of the World Federation of Hemophilia (01.09.2008)
Published in Haemophilia : the official journal of the World Federation of Hemophilia (01.09.2008)
Get full text
Journal Article
Loading…
Genetic and epigenetic states of the GNAS complex in pseudohypoparathyroidism type Ib using methylation-specific multiplex ligation-dependent probe amplification assay
Yuno, Akiko, Usui, Takeshi, Yambe, Yuko, Higashi, Kiichiro, Ugi, Satoshi, Shinoda, Junji, Mashio, Yasuo, Shimatsu, Akira
Published in European journal of endocrinology (01.02.2013)
Published in European journal of endocrinology (01.02.2013)
Get full text
Journal Article
Loading…