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multiplex ligation-dependent probe amplification (mlpa  (MRC-Holland)

 
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    Structured Review

    MRC-Holland multiplex ligation-dependent probe amplification (mlpa
    Multiplex Ligation Dependent Probe Amplification (Mlpa, supplied by MRC-Holland, used in various techniques. Bioz Stars score: 90/100, based on 1 PubMed citations. ZERO BIAS - scores, article reviews, protocol conditions and more
    https://www.bioz.com/product/access+array+multiplex+pcr/multiplex+ligation+dependent+probe+amplification++mlpa/pmc10000790-88-0-6
    Average 90 stars, based on 1 article reviews
    multiplex ligation-dependent probe amplification (mlpa - by Bioz Stars, 2026-10
    90/100 stars

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    Related Articles

    Multiplex Assay:

    Article Title: High Incidence of CPLANE1 -Related Joubert Syndrome in the Products of Conceptions from Early Pregnancy Losses
    Article Snippet: To rule out chromosomal abnormalities and maternal DNA contamination, a quantitative fluorescence-polymerase chain reaction (QF-PCR) method using Short Tandem Repeats markers on chromosomes 13, 18, and 21 and sex chromosomes and subtelomere Multiplex Ligation Probe dependent Amplification (MLPA) (MRC-Holland) was used.

    Article Title: Genotype-phenotype analyses of Iranian patients with hemophilia B (Leyden -) and hemophilia B (Leyden +): A single-center study.
    Article Snippet: Background: There is a high prevalence of inherited bleeding disorders in Iran, such as hemophilia A (HA) and hemophilia B (HB).. This study aimed to analyze the molecular and clinical profiles of patients with HB.. Methods: A single-center study was conducted among patients with severe HB between March 20, 2000, and June 31, 2023.

    Article Title: Microdeletion in distal PLP1 enhancers causes hereditary spastic paraplegia 2.
    Article Snippet: The multiplex ligation-dependent probe amplification (MLPA) kit (SALSA MLPA probemix P165 and P213, MRC-Holland) was used to detect the extent of large deletions or duplications of several spastic paraplegia associated genes, including SPAST, ATL1, REEP1, and SPG7.

    Article Title: Retinitis Pigmentosa Associated with EYS Gene Mutations: Disease Severity Staging and Central Retina Atrophy
    Article Snippet: Multiplex ligation-dependent probe amplification (MLPA) ( www.mrc-holland.com , (accessed on 1 December 2017) was also performed in one patient using the Beckman Coulter CEQ 8000 sequencer, and revealed the presence of a deletion in heterozygosity (c. (2135 _2204) _ (2351_2469) del) resulting in the loss of the exons 14 and 15.

    Article Title: Genotype-phenotype analyses of Iranian patients with and without hemophilia B Leyden: A single-center study
    Article Snippet: Finally, if no mutation was found, the gene of FIX was quanti ed by multiplex ligation-dependent ampli cation (MLPA) (MRC-Holland, Amsterdam, the Netherlands) [13].

    Article Title: Relationship between mutations in severe hemophilia A and risk of inhibitor development: A large single-center study.
    Article Snippet: Background: One of the major problems for patients with severe hemophilia A (HA) is the development of neutralizing antibodies against factor VIII.. This study aimed to analyze the molecular and clinical profiles of patients with severe HA and to determine if certain genetic variants predispose to inhibitor development in these patients.. Methods: A single-center study was conducted among patients with severe HA between March 20, 2000, and June 31, 2023.

    Article Title: Parkinson's disease variant detection and disclosure: PD GENEration, a North American study.
    Article Snippet: Lola Cook, Jennifer Verbrugge, Tae-Hwi Schwantes-An, Jeanine Schulze, Tatiana Foroud, Anne Hall, Karen S. Marder, Ignacio F. Mata, Niccolò E. Mencacci, Martha A. Nance, Michael A. Schwarzschild, Tanya Simuni, Susan Bressman, Anne-Marie Wills, Hubert H. Fernandez, Irene Litvan, Kelly E. Lyons, Holly A. Shill, Carlos Singer, Thomas F. Tropea, Nora Vanegas Arroyave, Janfreisy Carbonell, Rossy Cruz Vicioso, Linn Katus, Joseph F. Quinn, Priscila D. Hodges, Yan Meng, Samuel P. Strom, Cornelis Blauwendraat, Katja Lohmann, Cynthia Casaceli, Shilpa C. Rao, Kamalini Ghosh Galvelis, Anna Naito, James C. Beck and Roy N. Alcalay on behalf of the Parkinson’s Foundation and Parkinson Study Group PD GENEration investigators

    Article Title: Extended panel testing in ovarian cancer reveals BRIP1 as the third most important predisposition gene.
    Article Snippet: This is a PDF file of an article that has undergone enhancements after acceptance, such as the addition of a cover page and metadata, and formatting for readability, but it is not yet the definitive version of record.. This version will undergo additional copyediting, typesetting and review before it is published in its final form, but we are providing this version to give early visibility of the article.. Please note that, during the production process, errors may be discovered which could affect the content, and all legal disclaimers that apply to the journal pertain.

    Ligation:

    Article Title: High Incidence of CPLANE1 -Related Joubert Syndrome in the Products of Conceptions from Early Pregnancy Losses
    Article Snippet: To rule out chromosomal abnormalities and maternal DNA contamination, a quantitative fluorescence-polymerase chain reaction (QF-PCR) method using Short Tandem Repeats markers on chromosomes 13, 18, and 21 and sex chromosomes and subtelomere Multiplex Ligation Probe dependent Amplification (MLPA) (MRC-Holland) was used.

    Article Title: Genotype-phenotype analyses of Iranian patients with hemophilia B (Leyden -) and hemophilia B (Leyden +): A single-center study.
    Article Snippet: Background: There is a high prevalence of inherited bleeding disorders in Iran, such as hemophilia A (HA) and hemophilia B (HB).. This study aimed to analyze the molecular and clinical profiles of patients with HB.. Methods: A single-center study was conducted among patients with severe HB between March 20, 2000, and June 31, 2023.

    Article Title: Microdeletion in distal PLP1 enhancers causes hereditary spastic paraplegia 2.
    Article Snippet: The multiplex ligation-dependent probe amplification (MLPA) kit (SALSA MLPA probemix P165 and P213, MRC-Holland) was used to detect the extent of large deletions or duplications of several spastic paraplegia associated genes, including SPAST, ATL1, REEP1, and SPG7.

    Article Title: Retinitis Pigmentosa Associated with EYS Gene Mutations: Disease Severity Staging and Central Retina Atrophy
    Article Snippet: Multiplex ligation-dependent probe amplification (MLPA) ( www.mrc-holland.com , (accessed on 1 December 2017) was also performed in one patient using the Beckman Coulter CEQ 8000 sequencer, and revealed the presence of a deletion in heterozygosity (c. (2135 _2204) _ (2351_2469) del) resulting in the loss of the exons 14 and 15.

    Article Title: Genotype-phenotype analyses of Iranian patients with and without hemophilia B Leyden: A single-center study
    Article Snippet: Finally, if no mutation was found, the gene of FIX was quanti ed by multiplex ligation-dependent ampli cation (MLPA) (MRC-Holland, Amsterdam, the Netherlands) [13].

    Article Title: Relationship between mutations in severe hemophilia A and risk of inhibitor development: A large single-center study.
    Article Snippet: Background: One of the major problems for patients with severe hemophilia A (HA) is the development of neutralizing antibodies against factor VIII.. This study aimed to analyze the molecular and clinical profiles of patients with severe HA and to determine if certain genetic variants predispose to inhibitor development in these patients.. Methods: A single-center study was conducted among patients with severe HA between March 20, 2000, and June 31, 2023.

    Article Title: Parkinson's disease variant detection and disclosure: PD GENEration, a North American study.
    Article Snippet: Lola Cook, Jennifer Verbrugge, Tae-Hwi Schwantes-An, Jeanine Schulze, Tatiana Foroud, Anne Hall, Karen S. Marder, Ignacio F. Mata, Niccolò E. Mencacci, Martha A. Nance, Michael A. Schwarzschild, Tanya Simuni, Susan Bressman, Anne-Marie Wills, Hubert H. Fernandez, Irene Litvan, Kelly E. Lyons, Holly A. Shill, Carlos Singer, Thomas F. Tropea, Nora Vanegas Arroyave, Janfreisy Carbonell, Rossy Cruz Vicioso, Linn Katus, Joseph F. Quinn, Priscila D. Hodges, Yan Meng, Samuel P. Strom, Cornelis Blauwendraat, Katja Lohmann, Cynthia Casaceli, Shilpa C. Rao, Kamalini Ghosh Galvelis, Anna Naito, James C. Beck and Roy N. Alcalay on behalf of the Parkinson’s Foundation and Parkinson Study Group PD GENEration investigators

    Article Title: Extended panel testing in ovarian cancer reveals BRIP1 as the third most important predisposition gene.
    Article Snippet: This is a PDF file of an article that has undergone enhancements after acceptance, such as the addition of a cover page and metadata, and formatting for readability, but it is not yet the definitive version of record.. This version will undergo additional copyediting, typesetting and review before it is published in its final form, but we are providing this version to give early visibility of the article.. Please note that, during the production process, errors may be discovered which could affect the content, and all legal disclaimers that apply to the journal pertain.

    Amplification:

    Article Title: High Incidence of CPLANE1 -Related Joubert Syndrome in the Products of Conceptions from Early Pregnancy Losses
    Article Snippet: To rule out chromosomal abnormalities and maternal DNA contamination, a quantitative fluorescence-polymerase chain reaction (QF-PCR) method using Short Tandem Repeats markers on chromosomes 13, 18, and 21 and sex chromosomes and subtelomere Multiplex Ligation Probe dependent Amplification (MLPA) (MRC-Holland) was used.

    Article Title: Genotype-phenotype analyses of Iranian patients with hemophilia B (Leyden -) and hemophilia B (Leyden +): A single-center study.
    Article Snippet: Background: There is a high prevalence of inherited bleeding disorders in Iran, such as hemophilia A (HA) and hemophilia B (HB).. This study aimed to analyze the molecular and clinical profiles of patients with HB.. Methods: A single-center study was conducted among patients with severe HB between March 20, 2000, and June 31, 2023.

    Article Title: Microdeletion in distal PLP1 enhancers causes hereditary spastic paraplegia 2.
    Article Snippet: The multiplex ligation-dependent probe amplification (MLPA) kit (SALSA MLPA probemix P165 and P213, MRC-Holland) was used to detect the extent of large deletions or duplications of several spastic paraplegia associated genes, including SPAST, ATL1, REEP1, and SPG7.

    Article Title: Retinitis Pigmentosa Associated with EYS Gene Mutations: Disease Severity Staging and Central Retina Atrophy
    Article Snippet: Multiplex ligation-dependent probe amplification (MLPA) ( www.mrc-holland.com , (accessed on 1 December 2017) was also performed in one patient using the Beckman Coulter CEQ 8000 sequencer, and revealed the presence of a deletion in heterozygosity (c. (2135 _2204) _ (2351_2469) del) resulting in the loss of the exons 14 and 15.

    Article Title: Genotype-phenotype analyses of Iranian patients with and without hemophilia B Leyden: A single-center study
    Article Snippet: Finally, if no mutation was found, the gene of FIX was quanti ed by multiplex ligation-dependent ampli cation (MLPA) (MRC-Holland, Amsterdam, the Netherlands) [13].

    Article Title: Relationship between mutations in severe hemophilia A and risk of inhibitor development: A large single-center study.
    Article Snippet: Background: One of the major problems for patients with severe hemophilia A (HA) is the development of neutralizing antibodies against factor VIII.. This study aimed to analyze the molecular and clinical profiles of patients with severe HA and to determine if certain genetic variants predispose to inhibitor development in these patients.. Methods: A single-center study was conducted among patients with severe HA between March 20, 2000, and June 31, 2023.

    Article Title: Parkinson's disease variant detection and disclosure: PD GENEration, a North American study.
    Article Snippet: Lola Cook, Jennifer Verbrugge, Tae-Hwi Schwantes-An, Jeanine Schulze, Tatiana Foroud, Anne Hall, Karen S. Marder, Ignacio F. Mata, Niccolò E. Mencacci, Martha A. Nance, Michael A. Schwarzschild, Tanya Simuni, Susan Bressman, Anne-Marie Wills, Hubert H. Fernandez, Irene Litvan, Kelly E. Lyons, Holly A. Shill, Carlos Singer, Thomas F. Tropea, Nora Vanegas Arroyave, Janfreisy Carbonell, Rossy Cruz Vicioso, Linn Katus, Joseph F. Quinn, Priscila D. Hodges, Yan Meng, Samuel P. Strom, Cornelis Blauwendraat, Katja Lohmann, Cynthia Casaceli, Shilpa C. Rao, Kamalini Ghosh Galvelis, Anna Naito, James C. Beck and Roy N. Alcalay on behalf of the Parkinson’s Foundation and Parkinson Study Group PD GENEration investigators

    Article Title: Extended panel testing in ovarian cancer reveals BRIP1 as the third most important predisposition gene.
    Article Snippet: This is a PDF file of an article that has undergone enhancements after acceptance, such as the addition of a cover page and metadata, and formatting for readability, but it is not yet the definitive version of record.. This version will undergo additional copyediting, typesetting and review before it is published in its final form, but we are providing this version to give early visibility of the article.. Please note that, during the production process, errors may be discovered which could affect the content, and all legal disclaimers that apply to the journal pertain.

    Multiplex Ligation-dependent Probe Amplification:

    Article Title: High Incidence of CPLANE1 -Related Joubert Syndrome in the Products of Conceptions from Early Pregnancy Losses
    Article Snippet: To rule out chromosomal abnormalities and maternal DNA contamination, a quantitative fluorescence-polymerase chain reaction (QF-PCR) method using Short Tandem Repeats markers on chromosomes 13, 18, and 21 and sex chromosomes and subtelomere Multiplex Ligation Probe dependent Amplification (MLPA) (MRC-Holland) was used.

    Article Title: Genotype-phenotype analyses of Iranian patients with hemophilia B (Leyden -) and hemophilia B (Leyden +): A single-center study.
    Article Snippet: Background: There is a high prevalence of inherited bleeding disorders in Iran, such as hemophilia A (HA) and hemophilia B (HB).. This study aimed to analyze the molecular and clinical profiles of patients with HB.. Methods: A single-center study was conducted among patients with severe HB between March 20, 2000, and June 31, 2023.

    Article Title: Microdeletion in distal PLP1 enhancers causes hereditary spastic paraplegia 2.
    Article Snippet: The multiplex ligation-dependent probe amplification (MLPA) kit (SALSA MLPA probemix P165 and P213, MRC-Holland) was used to detect the extent of large deletions or duplications of several spastic paraplegia associated genes, including SPAST, ATL1, REEP1, and SPG7.

    Article Title: Retinitis Pigmentosa Associated with EYS Gene Mutations: Disease Severity Staging and Central Retina Atrophy
    Article Snippet: Multiplex ligation-dependent probe amplification (MLPA) ( www.mrc-holland.com , (accessed on 1 December 2017) was also performed in one patient using the Beckman Coulter CEQ 8000 sequencer, and revealed the presence of a deletion in heterozygosity (c. (2135 _2204) _ (2351_2469) del) resulting in the loss of the exons 14 and 15.

    Article Title: Genotype-phenotype analyses of Iranian patients with and without hemophilia B Leyden: A single-center study
    Article Snippet: Finally, if no mutation was found, the gene of FIX was quanti ed by multiplex ligation-dependent ampli cation (MLPA) (MRC-Holland, Amsterdam, the Netherlands) [13].

    Article Title: Relationship between mutations in severe hemophilia A and risk of inhibitor development: A large single-center study.
    Article Snippet: Background: One of the major problems for patients with severe hemophilia A (HA) is the development of neutralizing antibodies against factor VIII.. This study aimed to analyze the molecular and clinical profiles of patients with severe HA and to determine if certain genetic variants predispose to inhibitor development in these patients.. Methods: A single-center study was conducted among patients with severe HA between March 20, 2000, and June 31, 2023.

    Article Title: Parkinson's disease variant detection and disclosure: PD GENEration, a North American study.
    Article Snippet: Lola Cook, Jennifer Verbrugge, Tae-Hwi Schwantes-An, Jeanine Schulze, Tatiana Foroud, Anne Hall, Karen S. Marder, Ignacio F. Mata, Niccolò E. Mencacci, Martha A. Nance, Michael A. Schwarzschild, Tanya Simuni, Susan Bressman, Anne-Marie Wills, Hubert H. Fernandez, Irene Litvan, Kelly E. Lyons, Holly A. Shill, Carlos Singer, Thomas F. Tropea, Nora Vanegas Arroyave, Janfreisy Carbonell, Rossy Cruz Vicioso, Linn Katus, Joseph F. Quinn, Priscila D. Hodges, Yan Meng, Samuel P. Strom, Cornelis Blauwendraat, Katja Lohmann, Cynthia Casaceli, Shilpa C. Rao, Kamalini Ghosh Galvelis, Anna Naito, James C. Beck and Roy N. Alcalay on behalf of the Parkinson’s Foundation and Parkinson Study Group PD GENEration investigators

    Article Title: Extended panel testing in ovarian cancer reveals BRIP1 as the third most important predisposition gene.
    Article Snippet: This is a PDF file of an article that has undergone enhancements after acceptance, such as the addition of a cover page and metadata, and formatting for readability, but it is not yet the definitive version of record.. This version will undergo additional copyediting, typesetting and review before it is published in its final form, but we are providing this version to give early visibility of the article.. Please note that, during the production process, errors may be discovered which could affect the content, and all legal disclaimers that apply to the journal pertain.

    Mutagenesis:

    Article Title: High Incidence of CPLANE1 -Related Joubert Syndrome in the Products of Conceptions from Early Pregnancy Losses
    Article Snippet: To rule out chromosomal abnormalities and maternal DNA contamination, a quantitative fluorescence-polymerase chain reaction (QF-PCR) method using Short Tandem Repeats markers on chromosomes 13, 18, and 21 and sex chromosomes and subtelomere Multiplex Ligation Probe dependent Amplification (MLPA) (MRC-Holland) was used.

    Article Title: Genotype-phenotype analyses of Iranian patients with hemophilia B (Leyden -) and hemophilia B (Leyden +): A single-center study.
    Article Snippet: Background: There is a high prevalence of inherited bleeding disorders in Iran, such as hemophilia A (HA) and hemophilia B (HB).. This study aimed to analyze the molecular and clinical profiles of patients with HB.. Methods: A single-center study was conducted among patients with severe HB between March 20, 2000, and June 31, 2023.

    Article Title: Microdeletion in distal PLP1 enhancers causes hereditary spastic paraplegia 2.
    Article Snippet: The multiplex ligation-dependent probe amplification (MLPA) kit (SALSA MLPA probemix P165 and P213, MRC-Holland) was used to detect the extent of large deletions or duplications of several spastic paraplegia associated genes, including SPAST, ATL1, REEP1, and SPG7.

    Article Title: Retinitis Pigmentosa Associated with EYS Gene Mutations: Disease Severity Staging and Central Retina Atrophy
    Article Snippet: Multiplex ligation-dependent probe amplification (MLPA) ( www.mrc-holland.com , (accessed on 1 December 2017) was also performed in one patient using the Beckman Coulter CEQ 8000 sequencer, and revealed the presence of a deletion in heterozygosity (c. (2135 _2204) _ (2351_2469) del) resulting in the loss of the exons 14 and 15.

    Article Title: Genotype-phenotype analyses of Iranian patients with and without hemophilia B Leyden: A single-center study
    Article Snippet: Finally, if no mutation was found, the gene of FIX was quanti ed by multiplex ligation-dependent ampli cation (MLPA) (MRC-Holland, Amsterdam, the Netherlands) [13].

    Article Title: Relationship between mutations in severe hemophilia A and risk of inhibitor development: A large single-center study.
    Article Snippet: Background: One of the major problems for patients with severe hemophilia A (HA) is the development of neutralizing antibodies against factor VIII.. This study aimed to analyze the molecular and clinical profiles of patients with severe HA and to determine if certain genetic variants predispose to inhibitor development in these patients.. Methods: A single-center study was conducted among patients with severe HA between March 20, 2000, and June 31, 2023.

    Article Title: Parkinson's disease variant detection and disclosure: PD GENEration, a North American study.
    Article Snippet: Lola Cook, Jennifer Verbrugge, Tae-Hwi Schwantes-An, Jeanine Schulze, Tatiana Foroud, Anne Hall, Karen S. Marder, Ignacio F. Mata, Niccolò E. Mencacci, Martha A. Nance, Michael A. Schwarzschild, Tanya Simuni, Susan Bressman, Anne-Marie Wills, Hubert H. Fernandez, Irene Litvan, Kelly E. Lyons, Holly A. Shill, Carlos Singer, Thomas F. Tropea, Nora Vanegas Arroyave, Janfreisy Carbonell, Rossy Cruz Vicioso, Linn Katus, Joseph F. Quinn, Priscila D. Hodges, Yan Meng, Samuel P. Strom, Cornelis Blauwendraat, Katja Lohmann, Cynthia Casaceli, Shilpa C. Rao, Kamalini Ghosh Galvelis, Anna Naito, James C. Beck and Roy N. Alcalay on behalf of the Parkinson’s Foundation and Parkinson Study Group PD GENEration investigators

    Article Title: Extended panel testing in ovarian cancer reveals BRIP1 as the third most important predisposition gene.
    Article Snippet: This is a PDF file of an article that has undergone enhancements after acceptance, such as the addition of a cover page and metadata, and formatting for readability, but it is not yet the definitive version of record.. This version will undergo additional copyediting, typesetting and review before it is published in its final form, but we are providing this version to give early visibility of the article.. Please note that, during the production process, errors may be discovered which could affect the content, and all legal disclaimers that apply to the journal pertain.

    Real-time Polymerase Chain Reaction:

    Article Title: High Incidence of CPLANE1 -Related Joubert Syndrome in the Products of Conceptions from Early Pregnancy Losses
    Article Snippet: To rule out chromosomal abnormalities and maternal DNA contamination, a quantitative fluorescence-polymerase chain reaction (QF-PCR) method using Short Tandem Repeats markers on chromosomes 13, 18, and 21 and sex chromosomes and subtelomere Multiplex Ligation Probe dependent Amplification (MLPA) (MRC-Holland) was used.

    Article Title: Genotype-phenotype analyses of Iranian patients with hemophilia B (Leyden -) and hemophilia B (Leyden +): A single-center study.
    Article Snippet: Background: There is a high prevalence of inherited bleeding disorders in Iran, such as hemophilia A (HA) and hemophilia B (HB).. This study aimed to analyze the molecular and clinical profiles of patients with HB.. Methods: A single-center study was conducted among patients with severe HB between March 20, 2000, and June 31, 2023.

    Article Title: Microdeletion in distal PLP1 enhancers causes hereditary spastic paraplegia 2.
    Article Snippet: The multiplex ligation-dependent probe amplification (MLPA) kit (SALSA MLPA probemix P165 and P213, MRC-Holland) was used to detect the extent of large deletions or duplications of several spastic paraplegia associated genes, including SPAST, ATL1, REEP1, and SPG7.

    Article Title: Retinitis Pigmentosa Associated with EYS Gene Mutations: Disease Severity Staging and Central Retina Atrophy
    Article Snippet: Multiplex ligation-dependent probe amplification (MLPA) ( www.mrc-holland.com , (accessed on 1 December 2017) was also performed in one patient using the Beckman Coulter CEQ 8000 sequencer, and revealed the presence of a deletion in heterozygosity (c. (2135 _2204) _ (2351_2469) del) resulting in the loss of the exons 14 and 15.

    Article Title: Genotype-phenotype analyses of Iranian patients with and without hemophilia B Leyden: A single-center study
    Article Snippet: Finally, if no mutation was found, the gene of FIX was quanti ed by multiplex ligation-dependent ampli cation (MLPA) (MRC-Holland, Amsterdam, the Netherlands) [13].

    Article Title: Relationship between mutations in severe hemophilia A and risk of inhibitor development: A large single-center study.
    Article Snippet: Background: One of the major problems for patients with severe hemophilia A (HA) is the development of neutralizing antibodies against factor VIII.. This study aimed to analyze the molecular and clinical profiles of patients with severe HA and to determine if certain genetic variants predispose to inhibitor development in these patients.. Methods: A single-center study was conducted among patients with severe HA between March 20, 2000, and June 31, 2023.

    Article Title: Parkinson's disease variant detection and disclosure: PD GENEration, a North American study.
    Article Snippet: Lola Cook, Jennifer Verbrugge, Tae-Hwi Schwantes-An, Jeanine Schulze, Tatiana Foroud, Anne Hall, Karen S. Marder, Ignacio F. Mata, Niccolò E. Mencacci, Martha A. Nance, Michael A. Schwarzschild, Tanya Simuni, Susan Bressman, Anne-Marie Wills, Hubert H. Fernandez, Irene Litvan, Kelly E. Lyons, Holly A. Shill, Carlos Singer, Thomas F. Tropea, Nora Vanegas Arroyave, Janfreisy Carbonell, Rossy Cruz Vicioso, Linn Katus, Joseph F. Quinn, Priscila D. Hodges, Yan Meng, Samuel P. Strom, Cornelis Blauwendraat, Katja Lohmann, Cynthia Casaceli, Shilpa C. Rao, Kamalini Ghosh Galvelis, Anna Naito, James C. Beck and Roy N. Alcalay on behalf of the Parkinson’s Foundation and Parkinson Study Group PD GENEration investigators

    Article Title: Extended panel testing in ovarian cancer reveals BRIP1 as the third most important predisposition gene.
    Article Snippet: This is a PDF file of an article that has undergone enhancements after acceptance, such as the addition of a cover page and metadata, and formatting for readability, but it is not yet the definitive version of record.. This version will undergo additional copyediting, typesetting and review before it is published in its final form, but we are providing this version to give early visibility of the article.. Please note that, during the production process, errors may be discovered which could affect the content, and all legal disclaimers that apply to the journal pertain.

    Fluorescence:

    Article Title: High Incidence of CPLANE1 -Related Joubert Syndrome in the Products of Conceptions from Early Pregnancy Losses
    Article Snippet: To rule out chromosomal abnormalities and maternal DNA contamination, a quantitative fluorescence-polymerase chain reaction (QF-PCR) method using Short Tandem Repeats markers on chromosomes 13, 18, and 21 and sex chromosomes and subtelomere Multiplex Ligation Probe dependent Amplification (MLPA) (MRC-Holland) was used.

    Article Title: Genotype-phenotype analyses of Iranian patients with hemophilia B (Leyden -) and hemophilia B (Leyden +): A single-center study.
    Article Snippet: Background: There is a high prevalence of inherited bleeding disorders in Iran, such as hemophilia A (HA) and hemophilia B (HB).. This study aimed to analyze the molecular and clinical profiles of patients with HB.. Methods: A single-center study was conducted among patients with severe HB between March 20, 2000, and June 31, 2023.

    Article Title: Microdeletion in distal PLP1 enhancers causes hereditary spastic paraplegia 2.
    Article Snippet: The multiplex ligation-dependent probe amplification (MLPA) kit (SALSA MLPA probemix P165 and P213, MRC-Holland) was used to detect the extent of large deletions or duplications of several spastic paraplegia associated genes, including SPAST, ATL1, REEP1, and SPG7.

    Article Title: Retinitis Pigmentosa Associated with EYS Gene Mutations: Disease Severity Staging and Central Retina Atrophy
    Article Snippet: Multiplex ligation-dependent probe amplification (MLPA) ( www.mrc-holland.com , (accessed on 1 December 2017) was also performed in one patient using the Beckman Coulter CEQ 8000 sequencer, and revealed the presence of a deletion in heterozygosity (c. (2135 _2204) _ (2351_2469) del) resulting in the loss of the exons 14 and 15.

    Article Title: Genotype-phenotype analyses of Iranian patients with and without hemophilia B Leyden: A single-center study
    Article Snippet: Finally, if no mutation was found, the gene of FIX was quanti ed by multiplex ligation-dependent ampli cation (MLPA) (MRC-Holland, Amsterdam, the Netherlands) [13].

    Article Title: Relationship between mutations in severe hemophilia A and risk of inhibitor development: A large single-center study.
    Article Snippet: Background: One of the major problems for patients with severe hemophilia A (HA) is the development of neutralizing antibodies against factor VIII.. This study aimed to analyze the molecular and clinical profiles of patients with severe HA and to determine if certain genetic variants predispose to inhibitor development in these patients.. Methods: A single-center study was conducted among patients with severe HA between March 20, 2000, and June 31, 2023.

    Article Title: Parkinson's disease variant detection and disclosure: PD GENEration, a North American study.
    Article Snippet: Lola Cook, Jennifer Verbrugge, Tae-Hwi Schwantes-An, Jeanine Schulze, Tatiana Foroud, Anne Hall, Karen S. Marder, Ignacio F. Mata, Niccolò E. Mencacci, Martha A. Nance, Michael A. Schwarzschild, Tanya Simuni, Susan Bressman, Anne-Marie Wills, Hubert H. Fernandez, Irene Litvan, Kelly E. Lyons, Holly A. Shill, Carlos Singer, Thomas F. Tropea, Nora Vanegas Arroyave, Janfreisy Carbonell, Rossy Cruz Vicioso, Linn Katus, Joseph F. Quinn, Priscila D. Hodges, Yan Meng, Samuel P. Strom, Cornelis Blauwendraat, Katja Lohmann, Cynthia Casaceli, Shilpa C. Rao, Kamalini Ghosh Galvelis, Anna Naito, James C. Beck and Roy N. Alcalay on behalf of the Parkinson’s Foundation and Parkinson Study Group PD GENEration investigators

    Article Title: Extended panel testing in ovarian cancer reveals BRIP1 as the third most important predisposition gene.
    Article Snippet: This is a PDF file of an article that has undergone enhancements after acceptance, such as the addition of a cover page and metadata, and formatting for readability, but it is not yet the definitive version of record.. This version will undergo additional copyediting, typesetting and review before it is published in its final form, but we are providing this version to give early visibility of the article.. Please note that, during the production process, errors may be discovered which could affect the content, and all legal disclaimers that apply to the journal pertain.



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