Results 11 to 20 of about 29,886 (297)

Application of multiplex ligation-dependent probe amplification in the genetic testing of oculocutaneous albinism [PDF]

Chinese Medical Journal, 2019
Ying-Zi Zhang, Da-Yong Bai, Zhan Qi, Su-Zhou Zhao, Xiu-Min Yang, Wei Li, Ai-Hua Wei, Qiang Shi   +7 more
doaj   +2 more sources

New Variants in the CDH1 Gene in Iranian Families with Hereditary Diffuse Gastric Cancer [PDF]

Middle East Journal of Cancer, 2020
Background: Hereditary diffuse gastric cancer (HDGC) is a hereditable form of diffuse gastric cancer with very aggressive tumors, poor prognosis, and delayed clinical signs.
Majid Kheirollahi, Maryam Saneipour, Mohammad Amin Tabatabaiefar, Mehrdad Zeinalian, Mohammad Minakari, Abbas Moridnia   +5 more
doaj   +1 more source

PRADER-WILLI SYNDROME IDENTIFIED BY METHYLATION SPECIFIC MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION (MS-MLPA) [PDF]

Romanian Journal of Pediatrics, 2017
Prader-Willi syndrome (PWS) is a multisystemic complex genetic disorder caused by lack of expression of genes on the paternally inherited chromosome 15q11.2-q13 region.
Simona Loredana Vasilache, Adelina Micheu, Claudia Banescu, Valeriu Moldovan, Carmen Duicu, Ionela Maria Pascanu, Oana Marginean   +6 more
doaj   +1 more source

Genomic deletions of MSH2 and MLH1 in colorectal cancer families detected by a novel mutation detection approach [PDF]

, 2002
Hereditary non-polyposis colorectal cancer is an autosomal dominant condition due to germline mutations in DNA-mismatch-repair genes, in particular MLH1, MSH2 and MSH6.
BV Bapat, C J Dommering, C J McElgunn, C Lamberti, CR Boland, D de Jong, F B L Hogervorst, F Charbonnier, F Charbonnier, F H Menko, FH Menko, G A Meijer, G Pals, HFA Vasen, HFA Vasen, J J P Gille, J P Schouten, J Raedle, J Th Wijnen, J Trojan, J Wijnen, J Wijnen, J Wijnen, JAL Armour, JL Mauillon, JP Schouten, JP Terdiman, JT Wijnen, K-H Shin, M E Craanen, M Nyström-Lahti, MA Rodriguez-Bigas, MJW Berends, P M Nederlof, R J van Schooten, S Syngal, S Wahlberg, SM Farrington, SS Wahlberg, T Liu, Y Wang   +40 more
core   +18 more sources

Implications of CYP21A2 gene duplications in carrier screening and prenatal diagnosis of congenital adrenal hyperplasia due to 21 Hydroxylase deficiency

Indian Pediatrics Case Reports, 2022
Background: Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder that presents as salt wasting or simple virilization (SV). It is due to biallelic mutations in the CYP21A2 gene that encodes the 21-hydroxylase enzyme.
Sudhisha Dubey, Renu Saxena, Ratna Dua Puri, Ishwar Chander Verma   +3 more
doaj   +1 more source

Multiplex Ligation-Dependent Probe Amplification for Simultaneous Detection of Six Allergenic Ingredients in Foods [PDF]

Shipin Kexue, 2023
A multiplex ligation-dependent probe amplification (MLPA) technique was developed for simultaneous detection of six food allergens: soy, sesame, peanut, almond, hazelnut and walnut.
WANG Mingqiu, LIU Yan, LI Shiyao, DONG Wanting, ZHANG Tao, LIN Jin, ZHU Biting, ZHANG Li
doaj   +1 more source

Multiplex ligation-dependent probe amplification detection of an unknown large deletion of the CREB-binding protein gene in a patient with Rubinstein-Taybi syndrome [PDF]

, 2013
Rubinstein-Taybi syndrome is a rare autosomal dominant congenital disorder characterized by postnatal growth retardation, psychomotor developmental delay, skeletal anomalies, peculiar facial morphology, and tumorigenesis.
Calì,F, Chiavetta,V, Failla,P, Ragalmuto,A, ROMANO, Valentino, Romano,C, Ruggeri,G, Schepis,C, Schinocca,P   +8 more
core   +1 more source

Multiplex Ligation-Dependent Probe Amplification of Uveal Melanoma: Correlation with Metastatic Death [PDF]

Investigative Opthalmology & Visual Science, 2009
To evaluate multiplex ligation-dependent probe amplification (MLPA) of uveal melanoma as a predictive tool for metastatic death.Uveal melanoma specimens of 73 patients treated between 1998 and 2000 were included. DNA samples were analyzed with MLPA evaluating 31 loci on chromosomes 1, 3, 6 and 8, and the results were correlated with metastatic death ...
Damato, Bertil, Dopierala, Justyna, Klaasen, Annelies, van Dijk, Marcory, Sibbring, Julie, Coupland, Sarah E.   +5 more
openaire   +3 more sources

Multiplex ligation-dependent probe amplification (MLPA) analysis is an effective tool for the detection of novel intragenic PLA2G6 mutations: Implications for molecular diagnosis [PDF]

, 2010
Phospholipase associated neurodegeneration (PLAN) comprises a heterogeneous group of autosomal recessive neurological disorders caused by mutations in the PLA2G6 gene. Direct gene sequencing detects 85% mutations in infantile neuroaxonal dystrophy.
Brady, Angela F, Crompton, Danielle, De Gressi, Susanna, Foster, Kathleen, Hardy, Carol, Hughes, Imelda, Kurian, Manju A, Lunt, Peter, MacPherson, Lesley, Maher, Eamonn R, McDonald, Fiona, Morgan, Neil V, Pike, Michael G, Rehal, Pauline K, Smith, Matthew   +14 more
core   +1 more source

Rapid detection of copy number variations and point mutations in BRCA1/2 genes using a single workflow by ion semiconductor sequencing pipeline [PDF]

, 2018
Molecular analysis of BRCA1 (MIM# 604370) and BRCA2 (MIM #600185) genes is essential for familial breast and ovarian cancer prevention and treatment.
Amanti, C, De Marchis, L, Germani, A, Libi, F, Lombardi, A, Maggi, S, Mattei, M, Pellegrini, P, Piane, M, Pizzuti, A, Stanzani., G, Torrisi, Mr   +11 more
core   +1 more source