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Identification of a patient with Bernard-Soulier syndrome and a deletion in the DiGeorge\/velo-cardio-facial chromosomal region in 22q11.2.Hum Mol Genet. 1995; 4: 763\u2013766.","journal-title":"Hum Mol Genet"},{"key":"BF02982690_CR66","doi-asserted-by":"crossref","first-page":"2968","DOI":"10.1182\/blood.V93.9.2968","volume":"93","author":"D Kenny","year":"1999","unstructured":"Kenny D, Morateck PA, Gill JC, Montgomery RR. The critical interaction of glycoprotein (GP) Ib\u03b2 with GPIX: a genetic cause of Bernard-Soulier syndrome.Blood. 1999; 93: 2968\u20132975.","journal-title":"Blood"},{"key":"BF02982690_CR67","doi-asserted-by":"crossref","first-page":"286","DOI":"10.1002\/1096-8628(2001)9999:9999<::AID-AJMG1176>3.0.CO;2-T","volume":"99","author":"M Nakagawa","year":"2001","unstructured":"Nakagawa M, Okuno M, Okamoto N, Fujino H, Kato H. Bernard- Soulier syndrome associated with 22q11.2 microdeletion.Am J Med Genet. 2001; 99: 286\u2013288.","journal-title":"Am J Med Genet"},{"key":"BF02982690_CR68","first-page":"475","volume":"2","author":"MR Lascone","year":"2001","unstructured":"Lascone MR, Sacchelli M, Vittorini S, Giusti S. Complex conotruncal heart defect, severe bleeding disorder and 22q11 deletion: a new case of Bernard-Soulier syndrome and of 22q11 deletion syndrome?Ital Heart J. 2001; 2: 475\u2013477.","journal-title":"Ital Heart J."},{"key":"BF02982690_CR69","doi-asserted-by":"crossref","first-page":"25","DOI":"10.1172\/JCI114692","volume":"86","author":"L Marco De","year":"1990","unstructured":"De Marco L, Mazzucato M, Fabris F, et al. Variant Bernard-Soulier syndrome type bolzano: a congenital bleeding disorder due to a structural and functional abnormality of the platelet glycoprotein Ib-IX complex.J Clin Invest. 1990; 86: 25\u201331.","journal-title":"J Clin Invest."},{"key":"BF02982690_CR70","doi-asserted-by":"crossref","first-page":"386","DOI":"10.1111\/j.1365-2141.1995.tb03316.x","volume":"89","author":"C Salle de la","year":"1995","unstructured":"de la Salle C, Baas MJ, Lanza F, et al. A three-base deletion remov ing a leucine residue in a leucine-rich repeat of platelet glycoprotein Ib\u03b1 associated with a variant of Bernard-Soulier syndrome (Nancy I).Br J Haematol. 1995; 89: 386\u2013396.","journal-title":"Br J Haematol"},{"key":"BF02982690_CR71","doi-asserted-by":"crossref","first-page":"104","DOI":"10.1055\/s-0037-1613976","volume":"84","author":"P Ulsemer","year":"2000","unstructured":"Ulsemer P, Lanza F, Baas MJ, et al. Role of the leucine-rich domain of platelet GPIb\u03b1 in correct post-translational processing: the Nancy I Bernard-Soulier mutation expressed on CHO cells.Thromb Haemost. 2000; 84: 104\u2013111.","journal-title":"Thromb Haemost"},{"key":"BF02982690_CR72","doi-asserted-by":"crossref","first-page":"520","DOI":"10.1055\/s-0038-1642471","volume":"71","author":"JE Sadler","year":"1994","unstructured":"Sadler JE. A revised classification of von Willebrand disease.Thromb Haemost. 1994; 71: 520\u2013525.","journal-title":"Thromb Haemost"},{"key":"BF02982690_CR73","doi-asserted-by":"crossref","first-page":"4761","DOI":"10.1073\/pnas.88.11.4761","volume":"88","author":"JL Miller","year":"1991","unstructured":"Miller JL, Cunningham D, Lyle VA, Finch CN. Mutation in the gene encoding the a chain of platelet glycoprotein Ib in platelet- type von Willebrand disease.Proc Natl Acad Sci U S A. 1991; 88: 4761\u20134765.","journal-title":"Proc Natl Acad Sci U S A"},{"key":"BF02982690_CR74","doi-asserted-by":"crossref","first-page":"1787","DOI":"10.1182\/blood.V81.7.1787.1787","volume":"81","author":"SD Russell","year":"1993","unstructured":"Russell SD, Roth GJ. Pseudo-von Willebrand disease: a mutation in the platelet glycoprotein Ib\u03b1 gene associated with a hyperactive surface receptor.Blood. 1993; 81: 1787\u20131791.","journal-title":"Blood"},{"key":"BF02982690_CR75","doi-asserted-by":"crossref","first-page":"727","DOI":"10.1182\/blood.V85.3.727.bloodjournal853727","volume":"85","author":"H Takahashi","year":"1995","unstructured":"Takahashi H, Murata M, Moriki T, et al. Substitution of Val for Met at residue 239 of platelet glycoprotein Ib\u03b1 in Japanese patients with platelet-type von Willebrand disease.Blood. 1995; 85: 727\u2013733.","journal-title":"Blood"},{"key":"BF02982690_CR76","doi-asserted-by":"crossref","first-page":"311","DOI":"10.1097\/00001721-199707000-00009","volume":"8","author":"S Kunishima","year":"1997","unstructured":"Kunishima S, Heaton DC, Naoe T, et al. De novo mutation of the platelet glycoprotein Ib\u03b1 gene in a patient with pseudo-von Willebrand disease.Blood Coagul Fibrinolysis. 1997; 8: 311\u2013315.","journal-title":"Blood Coagul Fibrinolysis"},{"key":"BF02982690_CR77","doi-asserted-by":"crossref","first-page":"312","DOI":"10.1046\/j.1365-2141.1997.582706.x","volume":"97","author":"P Noris","year":"1997","unstructured":"Noris P, Simsek S, Stibbe J, von dem Borne AE. A phenylalanine- 55 to serine amino-acid substitution in the human glycoprotein IX leucine-rich repeat is associated with Bernard-Soulier syndrome.Br J Haematol. 1997; 97: 312\u2013320.","journal-title":"Br J Haematol"},{"key":"BF02982690_CR78","doi-asserted-by":"crossref","first-page":"794","DOI":"10.1046\/j.1365-2141.1997.4753275.x","volume":"99","author":"K Suzuki","year":"1997","unstructured":"Suzuki K, Hayashi T, Yahagi A, et al. Novel point mutation in the leucine-rich motif of the platelet glycoprotein IX associated with Bernard-Soulier syndrome.Br J Haematol. 1997; 99: 794\u2013800.","journal-title":"Br J Haematol"},{"key":"BF02982690_CR79","doi-asserted-by":"crossref","first-page":"874","DOI":"10.1055\/s-0038-1650678","volume":"76","author":"M Noda","year":"1996","unstructured":"Noda M, Fujimura K, Takafuta T, et al. A point mutation in glycoprotein IX coding sequence (Cys73 (TGT) to Tyr(TAT)) causes impaired surface expression of GPIb\/IX\/V complex in two families with Bernard-Soulier syndrome.Thromb Haemost. 1996; 76: 874\u2013878.","journal-title":"Thromb Haemost"},{"key":"BF02982690_CR80","doi-asserted-by":"crossref","first-page":"1055","DOI":"10.1055\/s-0038-1656111","volume":"77","author":"T Kanaji","year":"1997","unstructured":"Kanaji T, Okamura T, Kurolwa M, et al. Molecular and genetic analysis of two patients with Bernard-Soulier syndrome: identification of new mutations in glycoprotein Ib\u03b1 gene.Thromb Haemost. 1997; 77: 1055\u20131061.","journal-title":"Thromb Haemost"},{"key":"BF02982690_CR81","doi-asserted-by":"crossref","first-page":"246","DOI":"10.1097\/00043426-199805000-00011","volume":"20","author":"T Mitsui","year":"1998","unstructured":"Mitsui T, Yokoyama S, Yazaki N, et al. Severe bleeding tendency in a patient with Bernard-Soulier syndrome associated with a homozygous single base pair deletion in the gene coding for the human platelet glycoprotein Ib\u03b1.J Pediatr Hematol Oncol. 1998; 20: 246\u2013251.","journal-title":"J Pediatr Hematol Oncol"},{"key":"BF02982690_CR82","doi-asserted-by":"crossref","first-page":"1411","DOI":"10.1055\/s-0038-1649956","volume":"74","author":"M Noda","year":"1995","unstructured":"Noda M, Fujimura K, Takafuta T, et al. Heterogeneous expression of glycoprotein Ib, IX and V in platelets from two patients with Bernard-Soulier syndrome caused by different genetic abnormalities.Thromb Haemost. 1995; 74: 1411\u20131415.","journal-title":"Thromb Haemost"},{"key":"BF02982690_CR83","doi-asserted-by":"crossref","first-page":"264","DOI":"10.1111\/j.1600-0609.1998.tb01035.x","volume":"60","author":"M Iwanaga","year":"1998","unstructured":"Iwanaga M, Kunishima S, Ikeda S, Tomonaga M, Naoe T. Vulnerable mutation Trp126\u2014>stop of glycoprotein IX in Japanese Bernard-Soulier syndrome.Eur J Haematol. 1998; 60: 264\u2013266.","journal-title":"Eur J Haematol"},{"key":"BF02982690_CR84","doi-asserted-by":"crossref","first-page":"1249","DOI":"10.1055\/s-0037-1616058","volume":"86","author":"Y Kurokawa","year":"2001","unstructured":"Kurokawa Y, Ishida F, Kamijo T, et al. A missense mutation (Tyr88 to Cys) in the platelet membrane glycoprotein Ib\u03b2 gene affects GPIb\/IX complex expression: Bernard-Soulier syndrome in the homozygous form and giant platelets in the heterozygous form.Thromb Haemost. 2001; 86: 1249\u20131256.","journal-title":"Thromb Haemost"},{"key":"BF02982690_CR85","doi-asserted-by":"crossref","first-page":"539","DOI":"10.1046\/j.1365-2141.1999.01733.x","volume":"107","author":"S Kunishima","year":"1999","unstructured":"Kunishima S, Tomiyama Y, Honda S, et al. Cys97\u2014>Tyr mutation in the glycoprotein IX gene associated with Bernard-Soulier syndrome.Br J Haematol. 1999; 107: 539\u2013545.","journal-title":"Br J Haematol"},{"key":"BF02982690_CR86","doi-asserted-by":"crossref","first-page":"112","DOI":"10.1055\/s-0037-1613977","volume":"84","author":"S Kunishima","year":"2000","unstructured":"Kunishima S, Tomiyama Y, Honda S, et al. Homozygous Pro74\u2014>Arg mutation in the platelet glycoprotein Ib\u03b2 gene associated with Bernard-Soulier syndrome.Thromb Haemost. 2000; 84: 112\u2013117.","journal-title":"Thromb Haemost"},{"key":"BF02982690_CR87","doi-asserted-by":"crossref","first-page":"1330","DOI":"10.1182\/blood.V97.5.1330","volume":"97","author":"A Savoia","year":"2001","unstructured":"Savoia A, Balduini CL, Savino M, et al. 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Molecular characterization of two mutations in platelet glycoprotein (GP) Ib\u03b1 in two Finnish Bernard-Soulier syndrome families.Eur J Haematol. 1999; 62: 160\u2013168.","journal-title":"Eur J Haematol"},{"key":"BF02982690_CR90","doi-asserted-by":"crossref","first-page":"141","DOI":"10.1002\/1096-8652(200010)65:2<141::AID-AJH9>3.0.CO;2-H","volume":"65","author":"JV Antonucci","year":"2000","unstructured":"Antonucci JV, Martin ES, Hulick PJ, Joseph A, Martin SE. Bernard-Soulier syndrome: common ancestry in two African American families with the GPIb\u03b1 Leu129Pro mutation.Am J Hematol. 2000; 65: 141\u2013148.","journal-title":"Am J Hematol"},{"key":"BF02982690_CR91","doi-asserted-by":"crossref","first-page":"2634","DOI":"10.1182\/blood.V90.7.2634","volume":"90","author":"V Afshar-Kharghan","year":"1997","unstructured":"Afshar-Kharghan V, Lopez JA. Bernard-Soulier syndrome caused by a dinucleotide deletion and reading frameshift in the region encoding the glycoprotein Ib\u03b1 transmembrane domain.Blood. 1997; 90: 2634\u20132643.","journal-title":"Blood"},{"key":"BF02982690_CR92","doi-asserted-by":"crossref","first-page":"919","DOI":"10.1046\/j.1365-2141.2000.02261.x","volume":"110","author":"V Afshar-Kharghan","year":"2000","unstructured":"Afshar-Kharghan V, Craig FE, Lopez JA. Bernard-Soulier syndrome in a patient doubly heterozygous for two frameshift mutations in the glycoprotein Ib\u03b1 gene.Br J Haematol. 2000; 110: 919\u2013924.","journal-title":"Br J Haematol"},{"key":"BF02982690_CR93","doi-asserted-by":"crossref","first-page":"178","DOI":"10.1111\/j.1600-0609.1996.tb01357.x","volume":"57","author":"M Donner","year":"1996","unstructured":"Donner M, Karpman D, Kristoffersson AC, Winqvist I, Holmberg L. Recurrent mutation Asn45\u2014>Ser of glycoprotein IX in Bernard-Soulier syndrome.Eur J Haematol. 1996; 57: 178\u2013179.","journal-title":"Eur J Haematol"},{"key":"BF02982690_CR94","doi-asserted-by":"crossref","first-page":"256","DOI":"10.1111\/j.1600-0609.1999.tb01755.x","volume":"62","author":"S Koskela","year":"1999","unstructured":"Koskela S, Javela K, Jouppila J, et al. Variant Bernard-Soulier syndrome due to homozygous Asn45Ser mutation in the platelet glycoprotein (GP) IX in seven patients of five unrelated Finnish families.Eur J Haematol. 1999; 62: 256\u2013264.","journal-title":"Eur J Haematol"},{"key":"BF02982690_CR95","doi-asserted-by":"crossref","first-page":"114","DOI":"10.1080\/09537100020047101","volume":"12","author":"K Vanhoorelbeke","year":"2001","unstructured":"Vanhoorelbeke K, Schlammadinger A, Delville JP, et al. Occurrence of the Asn45Ser mutation in the GPIX gene in a Belgian patient with Bernard Soulier syndrome.Platelets. 2001; 12: 114\u2013120.","journal-title":"Platelets"},{"key":"BF02982690_CR96","doi-asserted-by":"crossref","first-page":"670","DOI":"10.1055\/s-0038-1650640","volume":"76","author":"C Li","year":"1996","unstructured":"Li C, Pasquale DN, Roth GJ. Bernard-Soulier syndrome with severe bleeding: absent platelet glycoprotein Ib\u03b1 due to a homozygous one-base deletion.Thromb Haemost. 1996; 76: 670\u2013674.","journal-title":"Thromb Haemost"},{"key":"BF02982690_CR97","doi-asserted-by":"crossref","first-page":"175","DOI":"10.1182\/blood.V92.1.175.413a36_175_183","volume":"92","author":"D Kenny","year":"1998","unstructured":"Kenny D, Jonsson OG, Morateck PA, Montgomery RR. Naturally occurring mutations in glycoprotein Ib\u03b1 that result in defective ligand binding and synthesis of a truncated protein.Blood. 1998; 92: 175\u2013183.","journal-title":"Blood"},{"key":"BF02982690_CR98","doi-asserted-by":"crossref","first-page":"444","DOI":"10.1055\/s-0038-1648887","volume":"72","author":"S Simsek","year":"1994","unstructured":"Simsek S, Admiraal LG, Modderman PW, van-der-Schoot CE, von-dem-Borne AE. Identification of a homozygous single base pair deletion in the gene coding for the human platelet glycoprotein Ib\u03b1 causing Bernard-Soulier syndrome.Thromb Haemost. 1994; 72: 444\u2013449.","journal-title":"Thromb Haemost"},{"key":"BF02982690_CR99","doi-asserted-by":"crossref","first-page":"486","DOI":"10.1055\/s-0037-1614475","volume":"81","author":"M Margaglione","year":"1999","unstructured":"Margaglione M, DAndrea G, Grandone E, Brancaccio V, Amoriello A, Di Minno G. Compound heterozygosity (554-589 del, C515-T transition) in the platelet glycoprotein Ib\u03b1 gene in a patient with a severe bleeding tendency.Thromb Haemost. 1999; 81: 486\u2013492.","journal-title":"Thromb Haemost"},{"key":"BF02982690_CR100","doi-asserted-by":"crossref","first-page":"839","DOI":"10.1111\/j.1365-2141.1994.tb05125.x","volume":"88","author":"S Simsek","year":"1994","unstructured":"Simsek S, Noris P, Lozano M, et al. Cys209 Ser mutation in the platelet membrane glycoprotein Ib\u03b1 gene is associated with Bernard-Soulier syndrome.Br J Haematol. 1994; 88: 839\u2013844.","journal-title":"Br J Haematol"},{"key":"BF02982690_CR101","doi-asserted-by":"crossref","first-page":"1385","DOI":"10.1055\/s-0037-1616740","volume":"86","author":"C Gonzalez-Manchon","year":"2001","unstructured":"Gonzalez-Manchon C, Larrucea S, Pastor AL, et al. Compound heterozygosity of the GPIb\u03b1 gene associated with Bernard-Soulier syndrome.Thromb Haemost. 2001; 86: 1385\u20131391.","journal-title":"Thromb Haemost"},{"key":"BF02982690_CR102","doi-asserted-by":"crossref","first-page":"2026","DOI":"10.1073\/pnas.87.5.2026","volume":"87","author":"J Ware","year":"1990","unstructured":"Ware J, Russell SR, Vicente V, et al. Nonsense mutation in the glycoprotein Ib\u03b1 coding sequence associated with Bernard-Soulier syndrome.Proc Natl Acad Sci U S A. 1990; 87: 2026\u20132030.","journal-title":"Proc Natl Acad Sci U S A"},{"key":"BF02982690_CR103","doi-asserted-by":"crossref","first-page":"57","DOI":"10.1046\/j.1365-2141.1997.1772993.x","volume":"98","author":"L Holmberg","year":"1997","unstructured":"Holmberg L, Karpman D, Nilsson I, Olofsson T. Bernard-Soulier syndrome Karlstad: Trp 498\u2014>Stop mutation resulting in a truncated glycoprotein Ib\u03b1 that contains part of the transmembranous domain.Br J Haematol. 1997; 98: 57\u201363.","journal-title":"Br J Haematol"},{"key":"BF02982690_CR104","doi-asserted-by":"crossref","first-page":"532","DOI":"10.1182\/blood.V96.2.532","volume":"96","author":"N Moran","year":"2000","unstructured":"Moran N, Morateck PA, Deering A, et al. Surface expression of glycoprotein Ib\u03b1 is dependent on glycoprotein Ib\u03b2: evidence from a novel mutation causing Bernard-Soulier syndrome.Blood. 2000; 96: 532\u2013539.","journal-title":"Blood"},{"key":"BF02982690_CR105","doi-asserted-by":"crossref","first-page":"105","DOI":"10.1046\/j.1365-2141.2001.02529.x","volume":"112","author":"CE Rivera","year":"2001","unstructured":"Rivera CE, Villagra J, Riordan M, Williams S, Lindstrom KJ, Rick ME. Identification of a new mutation in platelet glycoprotein IX (GPIX) in a patient with Bernard-Soulier syndrome.Br J Haematol. 2001; 112: 105\u2013108.","journal-title":"Br J Haematol"},{"key":"BF02982690_CR106","doi-asserted-by":"crossref","first-page":"1004","DOI":"10.1046\/j.1365-2141.1998.01100.x","volume":"103","author":"P Noris","year":"1998","unstructured":"Noris P, Arbustini E, Spedini P, Belletti S, Balduini CL. A new variant of Bernard-Soulier syndrome characterized by dysfunctional glycoprotein (GP) Ib and severely reduced amounts of GPIX and GPV.Br J Haematol. 1998; 103: 1004\u20131013.","journal-title":"Br J Haematol"},{"key":"BF02982690_CR107","doi-asserted-by":"crossref","first-page":"185","DOI":"10.1111\/j.1365-2141.1994.tb04889.x","volume":"87","author":"M Arai","year":"1994","unstructured":"Arai M, Yamamoto N, Akamatsu N, et al. 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