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Статті в журналах з теми "Soulier"

Автор: Grafiati
Опубліковано: 13 квітня 2024

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1

Shitikova, A. S., Z. D. Fedorova, O. E. Belyazo, et al. "Bernard-Soulier disease." Kazan medical journal 68, no. 2 (1987): 124–30. http://dx.doi.org/10.17816/kazmj96033.

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Анотація:
Bernard-Soulier disease, a congenital macrocytic thrombocytopathy, was first described in 1948. Currently, this pathology has again attracted the attention of many researchers, as the study of its pathogenesis has deepened the understanding of the mechanisms of the hemostatic process concerning the interaction of platelets with the damaged vessel wall. This rare disease (70 cases were described by 1983) is inherited as an incomplete autosomal recessive trait and is observed with equal frequency in males and females. Bleeding from mucous membranes of the nose, mouth and other organs, petechiae and ecchymoses on the skin usually appear in early childhood. Hemorrhagic syndrome is usually of moderate severity, but often (in 17% of patients) is the direct cause of death due to bleeding from the gastrointestinal tract or hemorrhage in the brain and its membranes.
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2

Berndt, M. C., and R. K. Andrews. "Bernard-Soulier syndrome." Haematologica 96, no. 3 (2011): 355–59. http://dx.doi.org/10.3324/haematol.2010.039883.

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3

López, José A., Robert K. Andrews, Vahid Afshar-Kharghan, and Michael C. Berndt. "Bernard-Soulier Syndrome." Blood 91, no. 12 (1998): 4397–418. http://dx.doi.org/10.1182/blood.v91.12.4397.

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4

López, José A., Robert K. Andrews, Vahid Afshar-Kharghan, and Michael C. Berndt. "Bernard-Soulier Syndrome." Blood 91, no. 12 (1998): 4397–418. http://dx.doi.org/10.1182/blood.v91.12.4397.412k42_4397_4418.

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5

MENACHE, D. "Jean-Pierre Soulier." Revue Francaise de Transfusion et Immuno-hématologie 28, no. 6 (1985): 565–70. http://dx.doi.org/10.1016/s0338-4535(85)80001-5.

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6

SOULIER-PERKINS, ADELINE, and GERNOT KUNZ. "Revision of the malagassy endemic genus Amberana Distant (Hemiptera, Cercopidae) with description of one new genus." Zootaxa 3156, no. 1 (2012): 1. http://dx.doi.org/10.11646/zootaxa.3156.1.1.

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Анотація:
The genus Amberana Distant is revised. Three new species, A. attei Soulier-Perkins sp. n., A. ouvrardi Soulier-Perkinssp. n. and A. pascali Soulier-Perkins sp. n. are described. Lectotypes are designated for A. dimidiata (Signoret, 1960), A.fissurata Jacobi, 1917, A. noualhieri (Lallemand, 1920), A. sexguttata (Melichar, 1915) and A. uncinata Jacobi, 1917. Am-berana tripunctata var. completa Lallemand, 1949 and A. tripunctata Lallemand, 1920 are synonymised with A. bergevini(Lallemand, 1920). A new genus, Bourgoinrana Soulier-Perkins gen. n., is erected for B. perinetana (Synave, 1957),comb. n. (type species), B. rubescens (Synave, 1957), comb. n. and B. sandrangatensis (Synave, 1957), comb. n. Keysto species of Amberana and Bourgoinrana Soulier-Perkins gen. n. are provided. Drawings of the male genitalia for all species with exception of A. lemuria (Distant, 1908) are included.
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7

Louguet, Claire. "Philippe Soulier, Simplicius et." Philosophie antique, no. 15 (November 24, 2015): 291–94. http://dx.doi.org/10.4000/philosant.482.

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8

Desplanque, Gilles. "Ambleny (Aisne). Le Soulier." Archéologie médiévale, no. 42 (December 1, 2012): 176. http://dx.doi.org/10.4000/archeomed.10739.

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9

Galmiche, Thierry. "Ambleny (Aisne). Le Soulier." Archéologie médiévale, no. 41 (December 1, 2011): 183. http://dx.doi.org/10.4000/archeomed.11515.

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10

Rouger, P. "Professor Jean Pierre Soulier." Vox Sanguinis 84, no. 3 (2003): 163. http://dx.doi.org/10.1046/j.1423-0410.2003.00309.x.

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11

Konkle, Barbara A. "The Bernard-Soulier Syndrome." Trends in Cardiovascular Medicine 7, no. 7 (1997): 239–44. http://dx.doi.org/10.1016/s1050-1738(97)00064-9.

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12

Lefrère, J. J. "Jean-Pierre Soulier écrivain." Transfusion Clinique et Biologique 11, no. 1 (2004): 71–73. http://dx.doi.org/10.1016/j.tracli.2003.12.004.

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13

Berndt, Michael C., Dominique J. Fournier, and Peter A. Castaldi. "4 Bernard-Soulier syndrome." Baillière's Clinical Haematology 2, no. 3 (1989): 585–607. http://dx.doi.org/10.1016/s0950-3536(89)80035-6.

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14

Hahn, Thomas. "noé soulier «first memory»." tanz 14, no. 1 (2023): 37. http://dx.doi.org/10.5771/1869-7720-2023-1-037.

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15

Berthier, Philippe. "Sous le soulier de Satan." Roman 20-50 54, no. 2 (2012): 99. http://dx.doi.org/10.3917/r2050.054.0099.

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16

Neuweiler, W., and Alice Hess. "Bestimmung der Prothrombinzeit nach Soulier." DMW - Deutsche Medizinische Wochenschrift 75, no. 06 (2009): 196–99. http://dx.doi.org/10.1055/s-0028-1117827.

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17

Muller, J. Y. "Jean-Pierre Soulier (1915–2003)." Transfusion Clinique et Biologique 11, no. 1 (2004): 57–64. http://dx.doi.org/10.1016/j.tracli.2003.11.005.

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18

Mant, Michael J. "DDAVP in Bernard-Soulier syndrome." Thrombosis Research 52, no. 1 (1988): 77–78. http://dx.doi.org/10.1016/0049-3848(88)90045-x.

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19

PRABU, P., and L. A. PARAPIA. "Bernard-Soulier syndrome in pregnancy." Clinical and Laboratory Haematology 28, no. 3 (2006): 198–201. http://dx.doi.org/10.1111/j.1365-2257.2006.00780.x.

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20

Andrews, Robert, and Michael Berndt. "Bernard-Soulier Syndrome: An Update." Seminars in Thrombosis and Hemostasis 39, no. 06 (2013): 656–62. http://dx.doi.org/10.1055/s-0033-1353390.

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21

Menache-Aronson, D. "Jean-Pierre Soulier, 1915-2003." Journal of Thrombosis and Haemostasis 1, no. 5 (2003): 1125–26. http://dx.doi.org/10.1046/j.1538-7836.2003.00258.x.

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22

Pires, João Victor Alcântara, Julliana Ferrari Campêlo Libório de Santana, Etienny de Brito Dias Fernandes, et al. "Tratamento cirúrgico de cisto ovariano roto em paciente com síndrome de Bernard-Soulier." Research, Society and Development 11, no. 2 (2022): e47911225366. http://dx.doi.org/10.33448/rsd-v11i2.25366.

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Анотація:
Introdução: A síndrome de Bernard-Soulier (SBS) é uma doença hematológica e hereditária rara que possui uma prevalência estimada em 1:1.000.000. Suas anormalidades são decorrentes da expressão defeituosa do complexo glicoproteico GPIb/IX/V- receptor plaquetário que é crucial para o estabelecimento da hemostasia primária. Objetivo: Relatar um caso raro de cisto ovariano roto em portador da Síndrome de Bernard-Soulier. Metodologia: estudo descritivo, transversal, que consiste na elaboração de um relato de caso, elaborado a partir de uma análise do prontuário de um paciente portador da Síndrome de Bernard-Soulier que evoluiu com cisto ovariano roto. Para embasamento teórico foram utilizados artigos indexados em português e inglês na base de dados PubMed. Foram considerados os seguintes descritores: Ovarian Cysts, Bernard-Soulier Syndrome, e Abdomen Acute. Conclusão: Considerando a frequência e a gravidade dos eventos hemorrágicos como aspectos muito variáveis entre os pacientes portadores de SBS é necessário que o cirurgião sempre tenha em mente distúrbios hematológicos subjacentes ao se deparar com um possível abdome agudo hemorrágico.
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23

Crispolon, Elorde Jr S., Eric Guilbert, Sheryl A. Yap, and Adeline Soulier-Perkins. "New genus and new species of spittlebugs (Hemiptera: Cercopidae) from the Philippines." European Journal of Taxonomy 778 (November 16, 2021): 90–135. http://dx.doi.org/10.5852/ejt.2021.778.1571.

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The following new taxa are described from the Philippines: Mioscarta nubisa Crispolon & Soulier-Perkins sp. nov., M. translucida Crispolon & Yap sp. nov. and Trigonoschema Crispolon & Soulier-Perkins gen. nov. with three new species: T. manoborum Crispolon & Soulier-Perkins sp. nov. (as type species), T. negrosensis Crispolon & Yap sp. nov and T. rubercella Crispolon & Guilbert sp. nov. Trigonoschema pallida (Lallemand, 1927) comb. nov. is transferred from Mioscarta Breddin, 1901. Descriptions of male genitalia are illustrated and keys to species of Philippine Mioscarta and Trigonoschema gen. nov. are provided. Although phylogenetic results confirm the monophyly of all genera and Trigonoschema being a distinct genus from Mioscarta, relationships between genera remain uncertain. A checklist of the genera and species of Cercopidae found in the Philippines is included.
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24

Devine, DV, MS Currie, WF Rosse, and CS Greenberg. "Pseudo-Bernard-Soulier syndrome: thrombocytopenia caused by autoantibody to platelet glycoprotein Ib." Blood 70, no. 2 (1987): 428–31. http://dx.doi.org/10.1182/blood.v70.2.428.428.

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Анотація:
Abstract The Bernard-Soulier syndrome is an inherited bleeding disorder that is due to a deficiency in platelet glycoprotein Ib. Bernard-Soulier platelets fail to agglutinate in response to ristocetin despite normal levels of factor VIII:von Willebrand factor. We report a patient who developed severe refractory thrombocytopenia postsurgically while receiving procainamide therapy. Thrombocytopenia was immune mediated since the patient's platelets bore high levels of antiplatelet antibody. Radioimmunoprecipitation studies demonstrated that the autoantibodies had specificity for platelet glycoproteins Ib and V as well as platelet HLA. The patient's plasma as well as purified immunoglobulin G completely inhibited the ristocetin-induced aggregation of normal platelets but did not inhibit adenosine diphosphate-induced aggregation. The laboratory studies revealed that this patient suffered from antibody-mediated thrombocytopenia with unusual characteristics that we have called pseudo-Bernard-Soulier syndrome.
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25

Devine, DV, MS Currie, WF Rosse, and CS Greenberg. "Pseudo-Bernard-Soulier syndrome: thrombocytopenia caused by autoantibody to platelet glycoprotein Ib." Blood 70, no. 2 (1987): 428–31. http://dx.doi.org/10.1182/blood.v70.2.428.bloodjournal702428.

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Анотація:
The Bernard-Soulier syndrome is an inherited bleeding disorder that is due to a deficiency in platelet glycoprotein Ib. Bernard-Soulier platelets fail to agglutinate in response to ristocetin despite normal levels of factor VIII:von Willebrand factor. We report a patient who developed severe refractory thrombocytopenia postsurgically while receiving procainamide therapy. Thrombocytopenia was immune mediated since the patient's platelets bore high levels of antiplatelet antibody. Radioimmunoprecipitation studies demonstrated that the autoantibodies had specificity for platelet glycoproteins Ib and V as well as platelet HLA. The patient's plasma as well as purified immunoglobulin G completely inhibited the ristocetin-induced aggregation of normal platelets but did not inhibit adenosine diphosphate-induced aggregation. The laboratory studies revealed that this patient suffered from antibody-mediated thrombocytopenia with unusual characteristics that we have called pseudo-Bernard-Soulier syndrome.
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26

KUNISHIMA, Shinji. "Molecular Basis of Bernard-Soulier Syndrome." Japanese Journal of Thrombosis and Hemostasis 6, no. 2 (1995): 56–65. http://dx.doi.org/10.2491/jjsth.6.56.

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27

Hayashi, Tomohiro, and Keijiroh Suzuki. "Molecular Pathogenesis of Bernard-Soulier Syndrome." Seminars in Thrombosis and Hemostasis Volume 26, Number 01 (2000): 053–60. http://dx.doi.org/10.1055/s-2000-9804.

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28

Sandrock, Kirstin, Ralf Knöfler, Andreas Greinacher, et al. "Novel Mutation in Bernard-Soulier Syndrome." Transfusion Medicine and Hemotherapy 37, no. 5 (2010): 7. http://dx.doi.org/10.1159/000320255.

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29

Kunishima, Shinji, Tadashi Kamiya, and Hidehiko Saito. "Genetic Abnormalities of Bernard-Soulier Syndrome." International Journal of Hematology 76, no. 4 (2002): 319–27. http://dx.doi.org/10.1007/bf02982690.

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30

OKI, Yumiko, Kayo YOSHIOKA, Masato KONISHI, et al. "A case of Bernard-Soulier syndrome." Nihon Naika Gakkai Zasshi 76, no. 9 (1987): 1414–18. http://dx.doi.org/10.2169/naika.76.1414.

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31

Millet-Gérard, Dominique. "Beauté théologique du Soulier de Satin." Revue d'histoire littéraire de la France o 100, no. 6 (2000): 1547–58. http://dx.doi.org/10.3917/rhlf.g2000.100n6.1547.

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Анотація:
Résumé Les occurrences des mots «beau» et «beauté» dans Le Soulier de Satin sont étrangement conventionnelles.: il ne faut évidemment pas se laisser prendre à cette apparence, et le texte renferme aussi une réflexion, une méditation même sur le concept théologique du Beau, qui fait le lien entre nature et surnature ; aussi le terme de Beauté est-il relayé par l’imagerie lumineuse qui s’intensifie tout au long du drame, et concerne bien sûr aussi la mise en scène : c’est la splendeur de la Grâce qui doit ici être rendue, à travers une conception elle aussi très théolôgique — et baroque -— du théâtre qu’illustre Claudel dans son opus mirandum.
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32

SOULIER-PERKINS, ADELINE, MARIO NAVASERO, SHERYL YAP, and MICHAEL R. WILSON. "New species for Virgilia Stål, 1870 (Hemiptera, Lophopidae), genus review and key to species." Zootaxa 4415, no. 1 (2018): 135. http://dx.doi.org/10.11646/zootaxa.4415.1.6.

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Анотація:
Two new species of the lophopid genus Virgilia Stål 1866, are described and illustrated, V. cocovora Soulier-Perkins sp. nov. and V. imuganensis Soulier-Perkins sp. nov. A key to the species of the genus is provided. Photos for the four Virgilia species are presented and the male terminalia illustrations are given. A comment on the potential pest status of one of the described species, V. cocovora, is given.
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33

Bouteille, Emilien, Maxime Le Cesne, and Adeline Soulier-Perkins. "Cercopidae spittle-bugs (Hemiptera, Cicadomorpha) of Madagascar: a new species of Bourgoinrana and revision of the Locris species." ZooKeys 1023 (March 10, 2021): 29–47. http://dx.doi.org/10.3897/zookeys.1023.58733.

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The Locris species and subspecies from Madagascar are revised and a new combination is proposed: Locris johannae var. nigrolimbata Lallemand, 1910 to L. nigrolimbatacomb. nov. Illustrations and description of male terminalia are given for the first time for the three Locris species and an identification key is provided. A new species of the Malagasy endemic genus Bourgoinrana Soulier-Perkins, 2012 is described: B. beondrokaensis Le Cesne & Soulier-Perkins sp. nov. An updated identification key to the species of Bourgoinrana is provided.
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34

Drouin, J., JL McGregor, S. Parmentier, CA Izaguirre, and KJ Clemetson. "Residual amounts of glycoprotein Ib concomitant with near-absence of glycoprotein IX in platelets of Bernard-Soulier patients." Blood 72, no. 3 (1988): 1086–88. http://dx.doi.org/10.1182/blood.v72.3.1086.1086.

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Анотація:
Abstract A study of the Bernard-Soulier syndrome in two unrelated families using different polyclonal antibodies in a sensitive immunoblot assay showed residual amounts of platelet membrane glycoprotein (GP) lb in the eight homozygotes, as well as the near-absence of GPlb beta and GPIX. The eight heterozygotes studied showed a double band pattern for GPlb and about half the normal level of GPlb beta and GPIX. Therefore, we conclude that the Bernard-Soulier syndrome is heterogeneous and is probably not due to gene deletions.
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35

Drouin, J., JL McGregor, S. Parmentier, CA Izaguirre, and KJ Clemetson. "Residual amounts of glycoprotein Ib concomitant with near-absence of glycoprotein IX in platelets of Bernard-Soulier patients." Blood 72, no. 3 (1988): 1086–88. http://dx.doi.org/10.1182/blood.v72.3.1086.bloodjournal7231086.

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Анотація:
A study of the Bernard-Soulier syndrome in two unrelated families using different polyclonal antibodies in a sensitive immunoblot assay showed residual amounts of platelet membrane glycoprotein (GP) lb in the eight homozygotes, as well as the near-absence of GPlb beta and GPIX. The eight heterozygotes studied showed a double band pattern for GPlb and about half the normal level of GPlb beta and GPIX. Therefore, we conclude that the Bernard-Soulier syndrome is heterogeneous and is probably not due to gene deletions.
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36

Pham, Angie, and Jun Wang. "Bernard-Soulier Syndrome: An Inherited Platelet Disorder." Archives of Pathology & Laboratory Medicine 131, no. 12 (2007): 1834–36. http://dx.doi.org/10.5858/2007-131-1834-bsaipd.

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Анотація:
Abstract Bernard-Soulier syndrome is an inherited platelet disorder, which is transmitted in an autosomal recessive manner. This syndrome is characterized by variable thrombocytopenia and large defective platelets. Bernard-Soulier syndrome often presents early with bleeding symptoms, such as epistaxis, ecchymosis, menometrorrhagia, and gingival or gastrointestinal bleeding. Diagnosis can be confirmed by platelet aggregation studies and flow cytometry. The differential diagnosis includes the other inherited giant platelet disorders, as well as von Willebrand disease and immune thrombocytopenia purpura. Treatment is generally supportive with platelet transfusions when absolutely necessary and avoidance of antiplatelet medications. Recombinant activated factor VII and desmopressin have been used in attempts to shorten bleeding times; however, no definitive studies regarding their effectiveness have been reported.
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37

Tripathi, Preeti, Karthika K. V., H. P. Pati, and Seema Tyagi. "Bernard Soulier Syndrome; A Rare Bleeding Disorder." International Journal of Medical and Dental Sciences 7, no. 1 (2018): 1642. http://dx.doi.org/10.18311/ijmds/2018/18917.

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Анотація:
Bleeding syndromes in the newborn are rare, but they may be life-threatening and demand immediate attention. Congenital bleeding disorders especially pose a diagnostic challenge to the clinician because of their rarity and the need to be differentiated from the other common causes of bleeding in children. We present a case of an infant presenting with bleeding symptoms early in his life (since 5 months of age) which was initially thought to be immune thrombocytopenic purpura (ITP) with low platelet count. No response to steroids and further evaluation by platelet aggregometry and flowcytometry led to the correct diagnosis – Bernard soulier syndrome(BSS). Though, there is no specific treatment available for this rare bleeding disorder, however it is imperative to have arrived at correct diagnosis in order to save unnecessary therapy and to take due precautions for prevention of bleeding.
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38

Chakraborty, Somajita, and Debasmita Bhadra. "Bernard–Soulier syndrome (BSS) with uncontrollable menorrhagia." Asian Journal of Transfusion Science 14, no. 1 (2020): 93. http://dx.doi.org/10.4103/ajts.ajts_61_18.

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39

Kriplani, Alka, Bhawna Malhotra Singh, Ramamurti Sowbernika, and Ved Prakash Choudhry. "Successful pregnancy outcome in Bernard-Soulier syndrome." Journal of Obstetrics and Gynaecology Research 31, no. 1 (2005): 52–56. http://dx.doi.org/10.1111/j.1447-0756.2005.00240.x.

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40

Nurden, AT, V. Jallu, and P. Hourdille. "GP Ib and Bernard-Soulier platelets [letter]." Blood 73, no. 8 (1989): 2225–27. http://dx.doi.org/10.1182/blood.v73.8.2225.2225.

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41

Nurden, AT, V. Jallu, and P. Hourdille. "GP Ib and Bernard-Soulier platelets [letter]." Blood 73, no. 8 (1989): 2225–27. http://dx.doi.org/10.1182/blood.v73.8.2225.bloodjournal7382225.

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42

Ruiz-Roca, JA, RE Oñate-Sánchez, MC Cabrerizo-Merino, and FJ Rodríguez-Lozano. "Dental Extractions Management in Bernard–Soulier Syndrome." Journal of Craniofacial Surgery 26, no. 6 (2015): 2018. http://dx.doi.org/10.1097/scs.0000000000001895.

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43

Sengupta, Sivajee. "Bernard–Soulier Syndrome: An Inherited Platelet Disorder." International Journal of Human Genetics 2, no. 3 (2002): 205–7. http://dx.doi.org/10.1080/09723757.2002.11885807.

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44

Pitarch, G., A. Torrijos, T. Martínez-Menchón, J. L. Sánchez-Carazo, and J. M. Fortea. "Familial Aquagenic Urticaria and Bernard-Soulier Syndrome." Dermatology 212, no. 1 (2006): 96–97. http://dx.doi.org/10.1159/000089035.

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45

Nakagawa, Masao, Masahiko Okuno, Nobuhiko Okamoto, Hidetoshi Fujino, and Hirofumi Kato. "Bernard-Soulier syndrome associated with 22q11.2 microdeletion." American Journal of Medical Genetics 99, no. 4 (2001): 286–88. http://dx.doi.org/10.1002/1096-8628(2001)9999:9999<::aid-ajmg1176>3.0.co;2-t.

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46

Okan, V., M. Araz, C. Camci, et al. "BERNARD‐SOULIER SYNDROME IN A TURKISH FAMILY." International Journal of Clinical Practice 56, no. 7 (2002): 546–48. http://dx.doi.org/10.1111/j.1742-1241.2002.tb11316.x.

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47

CRISPOLON, ELORDE JR S., SHERYL A. YAP, and ADELINE SOULIER-PERKINS. "Revision of the endemic Philippine Poeciloterpa Stål (Hemiptera: Cercopidae) with description of four new species." Zootaxa 4608, no. 2 (2019): 291. http://dx.doi.org/10.11646/zootaxa.4608.2.6.

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Анотація:
The genus Poeciloterpa Stål endemic to the Philippines with 9 known species is reviewed. Four new species are described and illustrated: P. altissima Crispolon et Soulier-Perkins sp. nov., P. conica Crispolon et Soulier-Perkins sp. nov., P. gapudi Crispolon et Yap sp. nov. and P. mangkas Crispolon et Yap sp. nov. Illustrations and descriptions for the male genitalia are given for the first time for all the species except for P. nigrolimbata Stål known only by two female specimens. A key to species is provided. The type of habitats where the species are found is discussed and new host-plants listed.
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48

Kanaji, Taisuke, Susan Russell, and Jerry Ware. "Amelioration of the macrothrombocytopenia associated with the murine Bernard-Soulier syndrome." Blood 100, no. 6 (2002): 2102–7. http://dx.doi.org/10.1182/blood-2002-03-0997.

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Abstract An absent platelet glycoprotein (GP) Ib-IX receptor results in the Bernard-Soulier syndrome and is characterized by severe bleeding and the laboratory presentation of macrothrombocytopenia. Although the macrothrombocytopenic phenotype is directly linked to an absent GP Ib-IX complex, the disrupted molecular mechanisms that produce the macrothrombocytopenia are unknown. We have utilized a mouse model of the Bernard-Soulier syndrome to engineer platelets expressing an α-subunit of GP Ib (GP Ibα) in which most of the extracytoplasmic sequence has been replaced by an isolated domain of the α-subunit of the human interleukin-4 receptor (IL-4Rα). The IL-4Rα/GP Ibα fusion is membrane expressed in Chinese hamster ovary (CHO) cells, and its expression is facilitated by the presence of human GP IX and the β-subunit of GP Ib. Transgenic animals expressing a chimeric receptor were generated and bred into the murine Bernard-Soulier syndrome–producing animals devoid of mouse GP Ibα but expressing the IL-4Rα/GP Ibα fusion sequence. The characterization of these mice revealed a 2-fold increase in circulating platelet count and a 50% reduction in platelet size when compared with platelets from the mouse model of the Bernard-Soulier syndrome. Immunoprecipitation confirmed that the IL-4Rα/GP Ibα subunit interacts with filamin-1 and 14-3-3ζ, known binding proteins to the GP Ibα cytoplasmic tail. Mice expressing the chimeric receptor retain a severe bleeding phenotype, confirming a critical role for the GP Ibα extracytoplasmic domain in hemostasis. These results provide in vivo insights into the structural elements of the GP Ibα subunit that contribute to normal megakaryocyte maturation and thrombopoiesis.
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49

Kenny, Dermot, Ólafur G. Jónsson, Patricia A. Morateck та Robert R. Montgomery. "Naturally Occurring Mutations in Glycoprotein Ibα That Result in Defective Ligand Binding and Synthesis of a Truncated Protein". Blood 92, № 1 (1998): 175–83. http://dx.doi.org/10.1182/blood.v92.1.175.413a36_175_183.

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The platelet GPIb-V-IX complex is the receptor for the initial binding of von Willebrand factor (vWF) mediating platelet adhesion. The complex is composed of four membrane-spanning glycoproteins (GP): GPIbα, GPIbβ, GPIX, and GPV. Bernard-Soulier syndrome results from a qualitative or quantitative defect in one or more components of the platelet membrane GPIb-V-IX complex. We describe the molecular basis of a novel Bernard-Soulier syndrome variant in two siblings in whom GPIbα was not detected on the platelet surface but that was present in a soluble form in plasma. DNA sequence analysis showed that the affected individuals were compound heterozygotes for two mutations. One, inherited from a maternal allele, a T777 → C point mutation in GPIbα converting Cys65 → Arg within the second leucine rich repeat, the other, a single nucleotide substitution (G2078 → A) for the tryptophan codon (TGG) causing a nonsense codon (TGA) at residue 498 within the transmembrane region of GPIbα, inherited from a mutant paternal allele. The Bernard-Soulier phenotype was observed in siblings who were compound heterozygotes for these two mutations. Although GPIbα was not detected on the surface of the patient's platelets, soluble GPIbα could be immunoprecipitated from plasma. When plasmids encoding GPIbα containing the Cys65 → Arg mutation were transiently transfected into Chinese hamster ovary (CHO) cells stably expressing the GPβ-IX complex (CHOβIX), the expression of GPIbα was similar to the wild-type (WT) GPIbα, but did not bind vWF. When plasmids encoding GPIbα containing the Trp498 → stop were transiently transfected into CHOβIX, the surface expression of GPIbα was barely detectable compared with the WT GPIbα. Thus, this newly described compound heterozygous defect produces Bernard-Soulier syndrome by a combination of synthesis of a nonfunctional protein and of a truncated protein that fails to insert into the platelet membrane and is found circulating in plasma.
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50

Perez, Amanda Vilaverde, Cilomar Martins de Oliveira Filho, Tássia Cividanes Pazinato, et al. "Bernard-Soulier Syndrome in Pregnancy: A Case Report." Open Journal of Obstetrics and Gynecology 09, no. 06 (2019): 838–44. http://dx.doi.org/10.4236/ojog.2019.96082.

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