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Article ; Online: MYH9-related disease: Assessment of the pathogenicity of a new mutation.

Antoine, Babuty / Boisseau, Pierre / Drillaud, Nicolas / Eveillard, Marion / Fouassier, Marc

EJHaem

2023 Volume 4, Issue 3, Page(s) 869–871

Language	English
Publishing date	2023-05-17
Publishing country	United States
Document type	Journal Article
ISSN	2688-6146
ISSN (online)	2688-6146
DOI	10.1002/jha2.715
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Article ; Online: Updated overview on von Willebrand disease: focus on the interest of genotyping.

Itzhar-Baikian, Nathalie / Boisseau, Pierre / Joly, Bérangère / Veyradier, Agnès

Expert review of hematology

2019 Volume 12, Issue 12, Page(s) 1023–1036

Abstract: ... ...

Abstract	Introduction
MeSH term(s)	Genotype ; Genotyping Techniques ; Humans ; von Willebrand Diseases/diagnosis ; von Willebrand Diseases/epidemiology ; von Willebrand Diseases/genetics ; von Willebrand Diseases/therapy
Language	English
Publishing date	2019-10-06
Publishing country	England
Document type	Journal Article ; Review
ZDB-ID	2516804-6
ISSN	1747-4094 ; 1747-4086
ISSN (online)	1747-4094
ISSN	1747-4086
DOI	10.1080/17474086.2019.1670638
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Zs.A 6943: Show issues

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Article ; Online: Management and follow-up of pregnancy-onset thrombotic thrombocytopenic purpura: the French experience.

Béranger, Nicolas / Coppo, Paul / Tsatsaris, Vassilis / Boisseau, Pierre / Provôt, François / Delmas, Yahsou / Poullin, Pascale / Vanhoorelbeke, Karen / Veyradier, Agnès / Joly, Bérangère S

Blood advances

2023 Volume 8, Issue 1, Page(s) 183–193

Abstract: Abstract: Pregnancy-onset thrombotic thrombocytopenic purpura (TTP) is a rare and life-threatening disease of which diagnosis and management requires experienced multidisciplinary teams. The mechanisms responsible for a deficiency in the disintegrin and ...

Abstract	Abstract: Pregnancy-onset thrombotic thrombocytopenic purpura (TTP) is a rare and life-threatening disease of which diagnosis and management requires experienced multidisciplinary teams. The mechanisms responsible for a deficiency in the disintegrin and metalloprotease with thrombospondin type 1 repeats, member 13 (ADAMTS13) leading to pregnancy-onset TTP may be congenital or acquired, and studying ADAMTS13 conformation could be of interest. The differential diagnosis between TTP and other pregnancy-associated thrombotic microangiopathies (TMA) is often challenging. Our retrospective multicenter study highlights the significance and the challenges associated with pregnancy-onset TTP and childbirth in terms of diagnosis, obstetric management, and follow-up aspects. Among 1174 pregnancy-onset TMA enrolled in the French Registry for TMA from 2000 to 2020, we identified 108 pregnancy-onset TTP: 52 immune-mediated TTP (iTTP, 48.1%), 27 acquired TTP of unidentified mechanism (uTTP, 25%), and 29 congenital TTP (cTTP, 26.9%). Data show that maternal outcome is good (survival rate: 95%) and fetal outcome is linked to the gestational age at the onset of the disease (survival rate: 75.5%). Three distinct entities with different natural histories emerged: pregnancy-onset iTTP appears similar to idiopathic iTTP, with an open ADAMTS13 conformation, and is marked by a relapse risk independent of subsequent pregnancies; pregnancy-onset uTTP appears to have a different pathophysiology with an unexpected open ADAMTS13 conformation and a very low relapse risk independent of subsequent pregnancies; finally, pregnancy-onset cTTP is characterized by the necessity of pregnancy as a systematic and specific trigger and a need for prophylactic plasmatherapy for subsequent pregnancies. This trial was registered at www.clinicaltrials.gov as #NCT00426686, and at the Health Authority and the French Ministry of Health (P051064/PHRC AOM05012).
MeSH term(s)	Pregnancy ; Female ; Humans ; Purpura, Thrombotic Thrombocytopenic/diagnosis ; Purpura, Thrombotic Thrombocytopenic/epidemiology ; Purpura, Thrombotic Thrombocytopenic/therapy ; Follow-Up Studies ; Thrombotic Microangiopathies ; Retrospective Studies ; Recurrence
Language	English
Publishing date	2023-11-15
Publishing country	United States
Document type	Multicenter Study ; Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	2915908-8
ISSN	2473-9537 ; 2473-9529
ISSN (online)	2473-9537
ISSN	2473-9529
DOI	10.1182/bloodadvances.2023011972
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Zs.A 7153: Show issues

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Article ; Online: Biological, clinical features and modelling of heterozygous variants of glycoprotein Ib platelet subunit alpha (GP1BA) and glycoprotein Ib platelet subunit beta (GP1BB) genes responsible for constitutional thrombocytopenia.

Dib, Fatema / Quéméner, Agnès / Bayart, Sophie / Boisseau, Pierre / Babuty, Antoine / Trossaërt, Marc / Sigaud, Marianne / Ternisien, Catherine / Drillaud, Nicolas / Eveillard, Marion / Guillet, Benoit / Béné, Marie C / Fouassier, Marc

British journal of haematology

2022 Volume 199, Issue 5, Page(s) 744–753

Abstract: Constitutional thrombocytopenias are rare disorders, often difficult to discriminate from acquired thrombocytopenias. More than 80 genes have been described as being at the origin of these diseases. Among them, several variants of the glycoprotein Ib ... ...

Abstract	Constitutional thrombocytopenias are rare disorders, often difficult to discriminate from acquired thrombocytopenias. More than 80 genes have been described as being at the origin of these diseases. Among them, several variants of the glycoprotein Ib platelet subunit alpha (GP1BA) and glycoprotein Ib platelet subunit beta (GP1BB) genes, coding for the GpIb-IX-V glycoprotein complex, have been reported in the literature. The study reported here aimed at describing newly identified monoallelic anomalies affecting the GP1BA and GP1BB genes on a clinical, biological and molecular level. In a cohort of nine patients with macrothrombocytopenia, eight heterozygous variants of the GP1BA or GP1BB genes were identified. Five of them had never been described in the heterozygous state. Computer modelling disclosed structure/function relationships of these five variants.
MeSH term(s)	Humans ; Bernard-Soulier Syndrome/genetics ; Platelet Glycoprotein GPIb-IX Complex/genetics ; Thrombocytopenia/genetics ; Heterozygote ; Blood Platelets
Chemical Substances	Platelet Glycoprotein GPIb-IX Complex
Language	English
Publishing date	2022-09-29
Publishing country	England
Document type	Journal Article
ZDB-ID	80077-6
ISSN	1365-2141 ; 0007-1048
ISSN (online)	1365-2141
ISSN	0007-1048
DOI	10.1111/bjh.18462
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Uh III Zs.182: Show issues

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Article ; Online: Inherited Thrombotic Thrombocytopenic Purpura Revealed by Recurrent Strokes in a Male Adult: Case Report and Literature Review.

Beauvais, Diane / Venditti, Laura / Chassin, Olivier / Joly, Bérangère / Ameri, Alain / Boisseau, Pierre / Lambotte, Olivier / Coppo, Paul / Veyradier, Agnès / Denier, Christian

Journal of stroke and cerebrovascular diseases : the official journal of National Stroke Association

2019 Volume 28, Issue 6, Page(s) 1537–1539

Abstract: Thrombotic thrombocytopenic purpura (TTP) is a thrombotic microangiopathy related to a severe deficiency of ADAMTS13 (a disintegrin and metalloprotease with thrombospondin type 1 repeats, member 13). In this article, we describe the first case of a young ...

Abstract	Thrombotic thrombocytopenic purpura (TTP) is a thrombotic microangiopathy related to a severe deficiency of ADAMTS13 (a disintegrin and metalloprotease with thrombospondin type 1 repeats, member 13). In this article, we describe the first case of a young male adult suffering from a hereditary TTP revealed by recurrent strokes, relapsing despite antiplatelet and anticoagulant therapy. Because of the persistent moderate thrombocytopenia, plasmatic ADAMTS13 activity was investigated and was found lower than 5% in the absence of anti-ADAMTS13 IgG. Direct sequencing of ADAMTS13 gene led to the diagnosis of Upschaw-Schulman syndrome (USS). Inherited TTP or USS is a rare autosomal recessive inherited disease leading to a severe deficiency of ADAMTS13 mostly beginning in childhood or in young female adult during pregnancy. Our patient was treated with fresh frozen plasma every 2 weeks. One year after diagnosis, he was free of neurological symptoms. Around 12 cases of inherited TTP diagnosed in adults (outside pregnancy) are described in literature. Only 4 of them exhibited a stroke. This case is the first late onset genetic TTP revealed by recurrent strokes, moderate thrombocytopenia without anemia.
MeSH term(s)	ADAMTS13 Protein/deficiency ; ADAMTS13 Protein/genetics ; Adult ; DNA Mutational Analysis ; Genetic Predisposition to Disease ; Heredity ; Humans ; Male ; Mutation ; Pedigree ; Phenotype ; Plasma ; Polymorphism, Single Nucleotide ; Purpura, Thrombotic Thrombocytopenic/complications ; Purpura, Thrombotic Thrombocytopenic/diagnosis ; Purpura, Thrombotic Thrombocytopenic/genetics ; Purpura, Thrombotic Thrombocytopenic/therapy ; Recurrence ; Risk Factors ; Stroke/diagnosis ; Stroke/etiology ; Treatment Outcome
Chemical Substances	ADAMTS13 Protein (EC 3.4.24.87) ; ADAMTS13 protein, human (EC 3.4.24.87)
Language	English
Publishing date	2019-03-28
Publishing country	United States
Document type	Case Reports ; Journal Article ; Review
ZDB-ID	1131675-5
ISSN	1532-8511 ; 1052-3057
ISSN (online)	1532-8511
ISSN	1052-3057
DOI	10.1016/j.jstrokecerebrovasdis.2019.03.011
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Zs.A 3519: Show issues

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Article ; Online: Identification of von Willebrand factor D4 domain mutations in patients of Afro-Caribbean descent: In vitro characterization.

Dubois, Marie-Daniéla / Peyron, Ivan / Pierre-Louis, Olivier-Nicolas / Pierre-Louis, Serge / Rabout, Johalène / Boisseau, Pierre / de Jong, Annika / Susen, Sophie / Goudemand, Jenny / Neviere, Rémi / Fuseau, Pascal / Christophe, Olivier D / Lenting, Peter J / Denis, Cécile V / Casari, Caterina

Research and practice in thrombosis and haemostasis

2022 Volume 6, Issue 4, Page(s) e12737

Abstract: Background: Von Willebrand disease was diagnosed in two Afro-Caribbean patients and sequencing of the VWF gene (: Objectives: Our goal was to characterize how the D4 variants p.(Pro2145Thrfs*5) and p.(Cys2216Phefs*9) influenced VWF biosynthesis/ ... ...

Abstract	Background: Von Willebrand disease was diagnosed in two Afro-Caribbean patients and sequencing of the VWF gene ( Objectives: Our goal was to characterize how the D4 variants p.(Pro2145Thrfs5) and p.(Cys2216Phefs9) influenced VWF biosynthesis/secretion and functions using in vitro assays. Methods: Recombinant VWF (rVWF), mutant or wild-type, was produced via transient transfection of the human embryonic kidney cell line 293T. The use of different tags for the wild-type and the mutant allele allowed us to distinguish between the two forms when measuring VWF antigen in medium and cell lysates. Binding of rVWF to its ligands, collagen, factor VIII, ADAMTS13, and platelet receptors was also investigated. Results: Homozygous expression of the p.(Cys2216Phefs9)-rVWF mutation resulted in an almost complete intracellular retention of the protein. Heterozygous expression led to secretion of almost exclusively wild-type-rVWF, logically capable of normal interaction with the different ligands. In contrast, the p.(Pro2145Thrfs5)-rVWF exhibited reduced binding to type III collagen and αIIbβ3 integrin compared to wild-type-rVWF. Conclusions: We report two mutations of the D4 domains that induced combined qualitative and quantitative defects.
Language	English
Publishing date	2022-06-15
Publishing country	United States
Document type	Journal Article
ISSN	2475-0379
ISSN (online)	2475-0379
DOI	10.1002/rth2.12737
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Article ; Online: Robust Detection of Somatic Mosaicism and Repeat Interruptions by Long-Read Targeted Sequencing in Myotonic Dystrophy Type 1.

Mangin, Antoine / de Pontual, Laure / Tsai, Yu-Chih / Monteil, Laetitia / Nizon, Mathilde / Boisseau, Pierre / Mercier, Sandra / Ziegle, Janet / Harting, John / Heiner, Cheryl / Gourdon, Geneviève / Tomé, Stéphanie

International journal of molecular sciences

2021 Volume 22, Issue 5

Abstract: Myotonic dystrophy type 1 (DM1) is the most complex and variable trinucleotide repeat disorder caused by an unstable CTG repeat expansion, reaching up to 4000 CTG in the most severe cases. The genetic and clinical variability of DM1 depend on the sex and ...

Abstract	Myotonic dystrophy type 1 (DM1) is the most complex and variable trinucleotide repeat disorder caused by an unstable CTG repeat expansion, reaching up to 4000 CTG in the most severe cases. The genetic and clinical variability of DM1 depend on the sex and age of the transmitting parent, but also on the CTG repeat number, presence of repeat interruptions and/or on the degree of somatic instability. Currently, it is difficult to simultaneously and accurately determine these contributing factors in DM1 patients due to the limitations of gold standard methods used in molecular diagnostics and research laboratories. Our study showed the efficiency of the latest PacBio long-read sequencing technology to sequence large CTG trinucleotides, detect multiple and single repeat interruptions and estimate the levels of somatic mosaicism in DM1 patients carrying complex CTG repeat expansions inaccessible to most methods. Using this innovative approach, we revealed the existence of de novo CCG interruptions associated with CTG stabilization/contraction across generations in a new DM1 family. We also demonstrated that our method is suitable to sequence the DM1 locus and measure somatic mosaicism in DM1 families carrying more than 1000 pure CTG repeats. Better characterization of expanded alleles in DM1 patients can significantly improve prognosis and genetic counseling, not only in DM1 but also for other tandem DNA repeat disorders.
MeSH term(s)	Adult ; Female ; High-Throughput Nucleotide Sequencing ; Humans ; Male ; Middle Aged ; Mosaicism ; Myotonic Dystrophy/genetics ; Trinucleotide Repeat Expansion
Language	English
Publishing date	2021-03-05
Publishing country	Switzerland
Document type	Journal Article
ZDB-ID	2019364-6
ISSN	1422-0067 ; 1422-0067 ; 1661-6596
ISSN (online)	1422-0067
ISSN	1422-0067 ; 1661-6596
DOI	10.3390/ijms22052616
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Article ; Online: The homozygous variant p.Gln1311* in exon 28 of VWF is associated with the development of alloantibodies in 3 unrelated patients with type 3 VWD.

Lassalle, Fanny / Zawadzki, Christophe / Harroche, Annie / Biron-Andréani, Christine / Falaise, Céline / Boisseau, Pierre / Duployez, Nicolas / Jeanpierre, Emmanuelle / Rauch, Antoine / Paris, Camille / Susen, Sophie / Goudemand, Jenny

Haemophilia : the official journal of the World Federation of Hemophilia

2021 Volume 27, Issue 4, Page(s) e491–e494

MeSH term(s)	Adolescent ; Child ; Exons/genetics ; Female ; Humans ; Isoantibodies ; Male ; von Willebrand Disease, Type 3 ; von Willebrand Diseases/genetics ; von Willebrand Factor/genetics
Chemical Substances	Isoantibodies ; von Willebrand Factor
Language	English
Publishing date	2021-01-06
Publishing country	England
Document type	Letter
ZDB-ID	1229713-6
ISSN	1365-2516 ; 1351-8216 ; 1355-0691
ISSN (online)	1365-2516
ISSN	1351-8216 ; 1355-0691
DOI	10.1111/hae.14207
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Zs.A 4249: Show issues			Location: Je nach Verfügbarkeit (siehe Angabe bei Bestand) bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular Jg. 1995 - 2021: Lesesall (2.OG) ab Jg. 2022: Lesesaal (EG)
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Article ; Online: Identification of new F8 deep intronic variations in patients with haemophilia A.

Dericquebourg, Amy / Jourdy, Yohann / Fretigny, Mathilde / Lienhart, Anne / Claeyssens, Ségolène / Ternisien, Catherine / Boisseau, Pierre / Rohrlich, Pierre-Simon / Négrier, Claude / Vinciguerra, Christine

Haemophilia : the official journal of the World Federation of Hemophilia

2020 Volume 26, Issue 5, Page(s) 847–854

Abstract: Introduction: With current molecular diagnosis, about 1 to 5% of haemophilia A (HA) patients remain genetically unresolved. In these cases, deep intronic variation or structural variation disrupting the F8 gene could be causal.: Aim: To identify the ... ...

Abstract	Introduction: With current molecular diagnosis, about 1 to 5% of haemophilia A (HA) patients remain genetically unresolved. In these cases, deep intronic variation or structural variation disrupting the F8 gene could be causal. Aim: To identify the causal variation in four genetically unresolved mild-to-severe HA patients using an F8 mRNA analysis approach. Methods: Ectopic F8 mRNA analysis was performed in four unrelated HA patients. An in vitro minigene assay was performed in order to confirm the deleterious splicing impact of each variation identified. Results: In all probands, mRNA analysis revealed an aberrant splicing pattern, and sequencing of the corresponding intronic region found a deep intronic substitution. Two of these were new variations: c.2113+601G>A and c.1443+602A>G, while the c.143+1567A>G, found in two patients, has previously been reported. The c.1443+602A>G and the c.143+1567A>G variants both led to the creation of a de novo acceptor or donor splice site, respectively. Moreover, the c.143+1567A>G was found in 3/6 patients with genetically unresolved moderate HA registered in our laboratory. Haplotype analysis performed in all patients carrying the c.143+1567A>G variation suggests that this variation could be a recurrent variation. The c.2113+601G>A led to the exonization of a 122-bp antisense AluY element by increasing the strength of a pre-existing cryptic 5' splice site. For each point variation, in vitro splicing analysis confirmed its deleterious impact on splicing of the F8 transcript. Conclusion: We identified three deep intronic variations, leading to an aberrant mRNA splicing process as HA causing variation.
MeSH term(s)	Female ; Genetic Predisposition to Disease/genetics ; Hemophilia A/genetics ; Humans ; Introns/genetics ; Male
Language	English
Publishing date	2020-08-18
Publishing country	England
Document type	Journal Article
ZDB-ID	1229713-6
ISSN	1365-2516 ; 1351-8216 ; 1355-0691
ISSN (online)	1365-2516
ISSN	1351-8216 ; 1355-0691
DOI	10.1111/hae.14134
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Zs.A 4249: Show issues			Location: Je nach Verfügbarkeit (siehe Angabe bei Bestand) bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular Jg. 1995 - 2021: Lesesall (2.OG) ab Jg. 2022: Lesesaal (EG)
Zs.MO 450: Show issues

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Article ; Online: A Combination of Two Variants p. (Val510 =) and p. (Pro2145Thrfs * 5), Responsible for von Willebrand Disease Type 3 in a Caribbean Patient.

Dubois, Marie Daniela / Pierre-Louis, Serge / Rabout, Johalène / Denis, Cécile V / Christophe, Olivier / Susen, Sophie / Goudemand, Jenny / Boisseau, Pierre / Neviere, Rémi / Pierre-Louis, Olivier

TH open : companion journal to thrombosis and haemostasis

2020 Volume 4, Issue 4, Page(s) e318–e321

Language	English
Publishing date	2020-10-27
Publishing country	Germany
Document type	Journal Article
ZDB-ID	2901738-5
ISSN	2512-9465 ; 2567-3459
ISSN (online)	2512-9465
ISSN	2567-3459
DOI	10.1055/s-0040-1718703
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