Artículos de revistas sobre el tema "Probandho"
Crea una cita precisa en los estilos APA, MLA, Chicago, Harvard y otros
Consulte los 50 mejores artículos de revistas para su investigación sobre el tema "Probandho".
Junto a cada fuente en la lista de referencias hay un botón "Agregar a la bibliografía". Pulsa este botón, y generaremos automáticamente la referencia bibliográfica para la obra elegida en el estilo de cita que necesites: APA, MLA, Harvard, Vancouver, Chicago, etc.
También puede descargar el texto completo de la publicación académica en formato pdf y leer en línea su resumen siempre que esté disponible en los metadatos.
Explore artículos de revistas sobre una amplia variedad de disciplinas y organice su bibliografía correctamente.
Cotter, Philip D., Alison May, Liping Li, A. I. Al-Sabah, Edward J. Fitzsimons, Mario Cazzola y David F. Bishop. "Four New Mutations in the Erythroid-Specific 5-Aminolevulinate Synthase (ALAS2) Gene Causing X-Linked Sideroblastic Anemia: Increased Pyridoxine Responsiveness After Removal of Iron Overload by Phlebotomy and Coinheritance of Hereditary Hemochromatosis". Blood 93, n.º 5 (1 de marzo de 1999): 1757–69. http://dx.doi.org/10.1182/blood.v93.5.1757.
Texto completoCotter, Philip D., Alison May, Liping Li, A. I. Al-Sabah, Edward J. Fitzsimons, Mario Cazzola y David F. Bishop. "Four New Mutations in the Erythroid-Specific 5-Aminolevulinate Synthase (ALAS2) Gene Causing X-Linked Sideroblastic Anemia: Increased Pyridoxine Responsiveness After Removal of Iron Overload by Phlebotomy and Coinheritance of Hereditary Hemochromatosis". Blood 93, n.º 5 (1 de marzo de 1999): 1757–69. http://dx.doi.org/10.1182/blood.v93.5.1757.405a12_1757_1769.
Texto completoPujol, Pascal, Nathalie Alegre, Pierre vande Perre, Yves-Jean Bignon, Jean Chiesa, Marie Christine Picot, Virginie Galibert, Helena Bertet y Carole Corsini. "Psychosocial and clinical factors of probands impacting intrafamilial disclosure and uptake of genetic testing in families with BRCA1/2 or MMR gene mutations." Journal of Clinical Oncology 37, n.º 15_suppl (20 de mayo de 2019): e13151-e13151. http://dx.doi.org/10.1200/jco.2019.37.15_suppl.e13151.
Texto completoFisher, S. G., P. Mumby y S. Kohli. "Effect of familial breast cancer outcomes on health behaviors of relatives". Journal of Clinical Oncology 25, n.º 18_suppl (20 de junio de 2007): 1521. http://dx.doi.org/10.1200/jco.2007.25.18_suppl.1521.
Texto completoDe Paiva, Isaias Soares, Gleyson da Cruz Pinto, Fellipe Carlos Correa Batista y Caroline Graça De Paiva. "Mucopolissacaridose IIIB – relato de três casos e estimativa da incidência no município de Teresópolis - RJ". Brazilian Journal of Health Review 6, n.º 4 (29 de agosto de 2023): 19091–106. http://dx.doi.org/10.34119/bjhrv6n4-399.
Texto completoPedrazzani, Carla, Monica Aceti, Reka Schweighoffer, Andrea Kaiser-Grolimund, Nicole Bürki, Pierre O. Chappuis, Rossella Graffeo et al. "The Communication Chain of Genetic Risk: Analyses of Narrative Data Exploring Proband–Provider and Proband–Family Communication in Hereditary Breast and Ovarian Cancer". Journal of Personalized Medicine 12, n.º 8 (29 de julio de 2022): 1249. http://dx.doi.org/10.3390/jpm12081249.
Texto completoMiller, Jessica E., Kim W. Carter, Nicholas de Klerk y David P. Burgner. "The familial risk of infection-related hospitalization in children: A population-based sibling study". PLOS ONE 16, n.º 4 (28 de abril de 2021): e0250181. http://dx.doi.org/10.1371/journal.pone.0250181.
Texto completoScheftner, William A., Michael A. Young, Jean Endicott, William Coryell, Louis Fogg, David C. Clark y Jan Fawcett. "Family History and Five-year Suicide Risk". British Journal of Psychiatry 153, n.º 6 (diciembre de 1988): 805–9. http://dx.doi.org/10.1192/bjp.153.6.805.
Texto completoRice, Mabel L., Karla R. Haney y Kenneth Wexler. "Family Histories of Children With SLI Who Show Extended Optional Infinitives". Journal of Speech, Language, and Hearing Research 41, n.º 2 (abril de 1998): 419–32. http://dx.doi.org/10.1044/jslhr.4102.419.
Texto completoZhuang, Jianlong, Yu Zheng, Yuanbai Wang, Qianmei Zhuang, Yuying Jiang, Qingyue Xie, Shuhong Zeng y Jianxing Zeng. "Identification of a new β-thalassaemia variant Term CD+32(HBB: c.32A>C) in two Chinese families". Journal of Clinical Pathology 73, n.º 9 (27 de febrero de 2020): 593–96. http://dx.doi.org/10.1136/jclinpath-2020-206426.
Texto completoMeschia, James F., Robert D. Brown, Thomas G. Brott, John Hardy, Elizabeth J. Atkinson y Peter C. O’Brien. "Ischemic Stroke Mechanism and Likelihood of Having a Positive Family History of Stroke". Stroke 32, suppl_1 (enero de 2001): 361. http://dx.doi.org/10.1161/str.32.suppl_1.361-b.
Texto completoSusanti, Reka, Bhakti Karyadi, Deni Parlindungan y Aceng Ruyani. "Pengaruh Minuman Segar Buah Etlingera hemisphaerica (MSBE) terhadap Kadar Asam Urat dan Kolesterol Warga Kabupaten Lebong dan Kepahiang". Bioscientist : Jurnal Ilmiah Biologi 11, n.º 1 (30 de junio de 2023): 279. http://dx.doi.org/10.33394/bioscientist.v11i1.7303.
Texto completoGrigoroiu-Serbanescu, M. y R. C. Elston. "Incongruent psychosis in bipolar i disorder: heritability and importance for genetic association studies". European Psychiatry 26, S2 (marzo de 2011): 213. http://dx.doi.org/10.1016/s0924-9338(11)71923-x.
Texto completoHlavatá, Lucia, Ľubica Ďuďáková, Jana Moravíková, Anna Zobanová, Bohdan Kousal y Petra Lišková. "Molecular Genetic Cause of Achromatopsia in Two Patients of Czech Origin". Czech and Slovak Ophthalmology 75, n.º 5 (21 de octubre de 2019): 272–76. http://dx.doi.org/10.31348/2019/5/5.
Texto completoFontaine, Robert, Ping Wang y Charles Glueck. "Interaction of Heritable and Estrogen-induced Thrombophilia: Possible Etiologies for Ischemic Optic Neuropathy and Ischemic Stroke". Thrombosis and Haemostasis 85, n.º 02 (2001): 256–59. http://dx.doi.org/10.1055/s-0037-1615698.
Texto completoXian, Xiaoying, Lin Liao, Wei Shu, Hongtao Li, Yuanyuan Qin, Jie Yan, Jianming Luo y Fa-Quan Lin. "A Novel Mutation of SLC19A2 in a Chinese Zhuang Ethnic Family with Thiamine-Responsive Megaloblastic Anemia". Cellular Physiology and Biochemistry 47, n.º 5 (2018): 1989–97. http://dx.doi.org/10.1159/000491467.
Texto completoVaillant, George E., George E. Vaillant, Maren Batalden, John Orav, Diane Roston y James E. Barrett. "Evidence for a Possibly X-Linked Trait Related to Affective Illness". Australian & New Zealand Journal of Psychiatry 39, n.º 8 (agosto de 2005): 730–35. http://dx.doi.org/10.1080/j.1440-1614.2005.01658.x.
Texto completoSmith, Maria, Kristina Hwang, Julia Anne Smith y Bhavana Pothuri. "Evaluation of proband adherence and satisfaction with a prospective cascade testing protocol." Journal of Clinical Oncology 39, n.º 15_suppl (20 de mayo de 2021): 10593. http://dx.doi.org/10.1200/jco.2021.39.15_suppl.10593.
Texto completoFYER, ABBY J., JOSHUA D. LIPSITZ, SALVATORE MANNUZZA, BONNIE ARONOWITZ y TIMOTHY F. CHAPMAN. "A direct interview family study of obsessive–compulsive disorder. I". Psychological Medicine 35, n.º 11 (28 de julio de 2005): 1611–21. http://dx.doi.org/10.1017/s0033291705005441.
Texto completoKendler, Kenneth S. "Is seeking treatment for depression predicted by a history of depression in relatives? Implications for family studies of affective disorder". Psychological Medicine 25, n.º 4 (julio de 1995): 807–14. http://dx.doi.org/10.1017/s0033291700035054.
Texto completoSham, Pak Chung, Peter Jones, Ailsa Russell, Karyna Gilvarry, Paul Bebbington, Shôn Lewis, Brian Toone y Robin Murray. "Age at Onset, Sex, and Familial Psychiatric Morbidity in Schizophrenia". British Journal of Psychiatry 165, n.º 4 (octubre de 1994): 466–73. http://dx.doi.org/10.1192/bjp.165.4.466.
Texto completoPulver, Ann E., Kung-Yee Liang, C. Hendricks Brown, Paula Wolyniec, John McGrath, Lawrence Adler, Doreen Tam, William T. Carpenter y Barton Childs. "Risk Factors in Schizophrenia". British Journal of Psychiatry 160, n.º 1 (enero de 1992): 65–71. http://dx.doi.org/10.1192/bjp.160.1.65.
Texto completoZhang, Jian-hui, Dan-dan Ruan, Ya-nan Hu, Xing-lin Ruan, Yao-bin Zhu, Xiao Yang, Jia-bin Wu, Xin-fu Lin, Jie-wei Luo y Fa-qiang Tang. "Review and Analysis of Two Gitelman Syndrome Pedigrees Complicated with Proteinuria or Hashimoto’s Thyroiditis Caused by Compound Heterozygous SLC12A3 Mutations". BioMed Research International 2021 (10 de mayo de 2021): 1–12. http://dx.doi.org/10.1155/2021/9973161.
Texto completoNorero, Enrique, M. Alejandra Alarcon, Christopher Hakkaart, Tomas de Mayo, Cecilia Mellado, Marcelo Garrido, Gloria Aguayo et al. "Identification of c.1531C>T Pathogenic Variant in the CDH1 Gene as a Novel Germline Mutation of Hereditary Diffuse Gastric Cancer". International Journal of Molecular Sciences 20, n.º 20 (9 de octubre de 2019): 4980. http://dx.doi.org/10.3390/ijms20204980.
Texto completoKinnamon, Daniel D., Elizabeth Jordan, Garrie J. Haas, Mark Hofmeyer, Evan Kransdorf, Gregory A. Ewald, Alanna A. Morris et al. "Effectiveness of the Family Heart Talk Communication Tool in Improving Family Member Screening for Dilated Cardiomyopathy: Results of a Randomized Trial". Circulation 147, n.º 17 (25 de abril de 2023): 1281–90. http://dx.doi.org/10.1161/circulationaha.122.062507.
Texto completoAnanth, Cande, Kathleen Jablonski, Leslie Myatt, James Roberts, Alan Tita, Kenneth Leveno, Uma Reddy et al. "Risk of Ischemic Placental Disease in Relation to Family History of Preeclampsia". American Journal of Perinatology 36, n.º 06 (3 de octubre de 2018): 624–31. http://dx.doi.org/10.1055/s-0038-1672177.
Texto completoSzulik, Marta W., Miguel Reyes-Múgica, Daniel F. Marker, Ana M. Gomez, Matthew D. Zinn, Leslie K. Walsh, Juan Pablo Ochoa, Sarah Franklin y Lina Ghaloul-Gonzalez. "Identification of Two Homozygous Variants in MYBPC3 and SMYD1 Genes Associated with Severe Infantile Cardiomyopathy". Genes 14, n.º 3 (6 de marzo de 2023): 659. http://dx.doi.org/10.3390/genes14030659.
Texto completoShi, Xiao, Hao Geng, Hui Yu, Xiaolong Hu, Guanxiong Wang, Jin Yang y Hui Zhao. "Biallelic Variants in CCDC39 Gene Lead to Primary Ciliary Dyskinesia and Kartagener Syndrome". BioMed Research International 2022 (26 de junio de 2022): 1–8. http://dx.doi.org/10.1155/2022/7130555.
Texto completoLi, Qian, Yongpeng Zhang, Liyun Jia y Xiaoyan Peng. "A novel nonsense mutation in BBS4 gene identified in a Chinese family with Bardet-Biedl syndrome". Chinese Medical Journal 127, n.º 24 (20 de diciembre de 2014): 4190–96. http://dx.doi.org/10.3760/cma.j.issn.0366-6999.20141359.
Texto completoQuee, P. J., B. Z. Alizadeh, A. Aleman y E. R. van den Heuvel. "Cognitive subtypes in non-affected siblings of schizophrenia patients: characteristics and profile congruency with affected family members". Psychological Medicine 44, n.º 2 (9 de mayo de 2013): 395–405. http://dx.doi.org/10.1017/s0033291713000809.
Texto completoShigekiyo, Toshio, Hidemasa Yoshida, Kazuya Matsumoto, Hiroyuki Azuma, Sadao Wakabayashi, Shiro Saito, Kazuo Fujikawa y Takehiko Koide. "HRG Tokushima: Molecular and Cellular Characterization of Histidine-Rich Glycoprotein (HRG) Deficiency". Blood 91, n.º 1 (1 de enero de 1998): 128–33. http://dx.doi.org/10.1182/blood.v91.1.128.
Texto completoShigekiyo, Toshio, Hidemasa Yoshida, Kazuya Matsumoto, Hiroyuki Azuma, Sadao Wakabayashi, Shiro Saito, Kazuo Fujikawa y Takehiko Koide. "HRG Tokushima: Molecular and Cellular Characterization of Histidine-Rich Glycoprotein (HRG) Deficiency". Blood 91, n.º 1 (1 de enero de 1998): 128–33. http://dx.doi.org/10.1182/blood.v91.1.128.128_128_133.
Texto completoVančová, Dominika, Ľudmila Jančoková, Júlia Palovičová y Pavol Pivovarniček. "Identifikácia chronotypov vysokoškolských študentiek". Studia sportiva 7, n.º 2 (2 de diciembre de 2013): 79–84. http://dx.doi.org/10.5817/sts2013-2-9.
Texto completoRussell, MB, S. Østergaard, L. Bendtsen y J. Olesen. "Familial Occurrence of Chronic Tension-Type Headache". Cephalalgia 19, n.º 4 (mayo de 1999): 207–10. http://dx.doi.org/10.1046/j.1468-2982.1999.019004207.x.
Texto completoNEWMAN, STEPHEN C. y ROGER C. BLAND. "A population-based family study of DSM-III generalized anxiety disorder". Psychological Medicine 36, n.º 9 (15 de mayo de 2006): 1275–81. http://dx.doi.org/10.1017/s0033291706007732.
Texto completoCardot Bauters, Catherine, Emmanuelle Leteurtre, Bruno Carnaille, Christine Do Cao, Stéphanie Espiard, Malo Penven, Evelyne Destailleur et al. "Genetic predisposition to neural crest-derived tumors: revisiting the role of KIF1B". Endocrine Connections 9, n.º 10 (octubre de 2020): 1042–50. http://dx.doi.org/10.1530/ec-20-0460.
Texto completoIreland, H., E. Thompson y D. A. Lane. "Gene Mutations in 21 Unrelated Cases of Phenotypic Heterozygous Protein C Deficiency and Thrombosis". Thrombosis and Haemostasis 76, n.º 06 (1996): 0867–73. http://dx.doi.org/10.1055/s-0038-1650677.
Texto completoVachon, Celine M., Robert Kyle, Terry Therneau, Dirk R. Larson, Colin Colby, Barbara J. Foreman, Angela Dispenzieri, Shaji Kumar, Jerry Katzmann y S. Vincent Rajkumar. "Increased Risk of Monoclonal Gammopathy in First-Degree Relatives of Patients with Multiple Myeloma or Monoclonal Gammopathy of Undetermined Significance." Blood 112, n.º 11 (16 de noviembre de 2008): 1672. http://dx.doi.org/10.1182/blood.v112.11.1672.1672.
Texto completoPandelache, Alison, David Francis, Ralph Oertel, Rebecca Dickson, Rani Sachdev, Ling Ling, Dinusha Gamage y David E. Godler. "Detection of Cryptic Fragile X Full Mutation Alleles by Southern Blot in a Female and Her Foetal DNA via Chorionic Villus Sampling, Complicated by Mosaicism for 45,X0/46,XX/47,XXX". Genes 12, n.º 6 (24 de mayo de 2021): 798. http://dx.doi.org/10.3390/genes12060798.
Texto completoGraziani, Ludovico, Stefania Zampatti, Miriam Lucia Carriero, Chiara Minotti, Cristina Peconi, Mario Bengala, Emiliano Giardina y Giuseppe Novelli. "Co-Inheritance of Pathogenic Variants in PKD1 and PKD2 Genes Determined by Parental Segregation and De Novo Origin: A Case Report". Genes 14, n.º 8 (6 de agosto de 2023): 1589. http://dx.doi.org/10.3390/genes14081589.
Texto completoVähäsalo, Paula, Mikael Knip, Jukka Karjalainen, Eva Tuomilehto-Wolf, Raisa Lounamaa, Hans K. Åkerblom y _. _. "Islet cell-specific autoantibodies in children with insulin-dependent diabetes mellitus and their siblings at clinical manifestation of the disease". European Journal of Endocrinology 135, n.º 6 (diciembre de 1996): 689–95. http://dx.doi.org/10.1530/eje.0.1350689.
Texto completoLui, S., L. Yao, Y. Xiao, S. K. Keedy, J. L. Reilly, R. S. Keefe, C. A. Tamminga et al. "Resting-state brain function in schizophrenia and psychotic bipolar probands and their first-degree relatives". Psychological Medicine 45, n.º 1 (20 de mayo de 2014): 97–108. http://dx.doi.org/10.1017/s003329171400110x.
Texto completoJacobs, M. J., S. Roesch, S. A. Wonderlich, R. Crosby, L. Thornton, D. E. Wilfley, W. H. Berrettini et al. "Anorexia nervosa trios: behavioral profiles of individuals with anorexia nervosa and their parents". Psychological Medicine 39, n.º 3 (26 de junio de 2008): 451–61. http://dx.doi.org/10.1017/s0033291708003826.
Texto completoCapellini, Simone Aparecida, Niura Aparecida de Mouro Ribeiro Padula, Lara Cristina Antunes dos Santos, Maria Dalva Lourenceti, Erika Hasse Carrenho y Lucilene Arilho Ribeiro. "Desempenho em consciência fonológica, memória operacional, leitura e escrita na dislexia familial". Pró-Fono Revista de Atualização Científica 19, n.º 4 (diciembre de 2007): 374–80. http://dx.doi.org/10.1590/s0104-56872007000400009.
Texto completoRadecki Breitkopf, Carmen, Susan M. Wolf, Kari G. Chaffee, Marguerite E. Robinson, Noralane M. Lindor, Deborah R. Gordon, Barbara A. Koenig y Gloria M. Petersen. "Attitudes Toward Return of Genetic Research Results to Relatives, Including After Death: Comparison of Cancer Probands, Blood Relatives, and Spouse/Partners". Journal of Empirical Research on Human Research Ethics 13, n.º 3 (27 de abril de 2018): 295–304. http://dx.doi.org/10.1177/1556264618769165.
Texto completoGoldstein, Jill M., Stephen V. Faraone, Wei J. Chen y Ming T. Tsuang. "The Role of Gender in Understanding the Familial Transmission of Schizoaffective Disorder". British Journal of Psychiatry 163, n.º 6 (diciembre de 1993): 763–68. http://dx.doi.org/10.1192/bjp.163.6.763.
Texto completoBonaventure, J., L. Cohen-Solal, P. Ritvaniemi, L. Van Maldergem, N. Kadhom, A. L. Delezoide, P. Maroteaux, D. J. Prockop y L. Ala-Kokko. "Substitution of aspartic acid for glycine at position 310 in type II collagen produces achondrogenesis II, and substitution of serine at position 805 produces hypochondrogenesis: analysis of genotype-phenotype relationships". Biochemical Journal 307, n.º 3 (1 de mayo de 1995): 823–30. http://dx.doi.org/10.1042/bj3070823.
Texto completoGrant, Robert C., Spring Holter, Ayelet Borgida, Melania Pintile, Mohammad R. Akbari, George Zogopoulos y Steven Gallinger. "Comparison of guidelines, BRCAPRO, and genetic counsellors estimates for the identification of BRCA1 and BRCA2 mutations in pancreatic cancer." Journal of Clinical Oncology 35, n.º 15_suppl (20 de mayo de 2017): e15784-e15784. http://dx.doi.org/10.1200/jco.2017.35.15_suppl.e15784.
Texto completoGriffin, Tomás P., Caroline M. Joyce, Sumaya Alkanderi, Liam M. Blake, Derek T. O’Keeffe, Delia Bogdanet, Md Nahidul Islam et al. "Biallelic CYP24A1 variants presenting during pregnancy: clinical and biochemical phenotypes". Endocrine Connections 9, n.º 6 (junio de 2020): 530–41. http://dx.doi.org/10.1530/ec-20-0150.
Texto completoMoniruzzaman, Mohammad, Pallab Kumar Das, Mhabuba Akter, Jasmin Nur, Zeenat Farzana Rahman, Md Sohrab Alam, Mansura Khan y M. Sawkat Hasan. "Down’s Syndrome Presented with Transmission of Maternal Translocation of 2; 21 Chromosomes. A Case Report". Bangladesh Medical Research Council Bulletin 49, n.º 2 (1 de agosto de 2023): 143–47. http://dx.doi.org/10.3329/bmrcb.v49i2.62712.
Texto completo