Статті в журналах з теми "Probandho"
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Cotter, Philip D., Alison May, Liping Li, A. I. Al-Sabah, Edward J. Fitzsimons, Mario Cazzola, and 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, no. 5 (March 1, 1999): 1757–69. http://dx.doi.org/10.1182/blood.v93.5.1757.
Повний текст джерелаCotter, Philip D., Alison May, Liping Li, A. I. Al-Sabah, Edward J. Fitzsimons, Mario Cazzola, and 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, no. 5 (March 1, 1999): 1757–69. http://dx.doi.org/10.1182/blood.v93.5.1757.405a12_1757_1769.
Повний текст джерелаPujol, Pascal, Nathalie Alegre, Pierre vande Perre, Yves-Jean Bignon, Jean Chiesa, Marie Christine Picot, Virginie Galibert, Helena Bertet, and 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, no. 15_suppl (May 20, 2019): e13151-e13151. http://dx.doi.org/10.1200/jco.2019.37.15_suppl.e13151.
Повний текст джерелаFisher, S. G., P. Mumby, and S. Kohli. "Effect of familial breast cancer outcomes on health behaviors of relatives." Journal of Clinical Oncology 25, no. 18_suppl (June 20, 2007): 1521. http://dx.doi.org/10.1200/jco.2007.25.18_suppl.1521.
Повний текст джерелаDe Paiva, Isaias Soares, Gleyson da Cruz Pinto, Fellipe Carlos Correa Batista, and 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, no. 4 (August 29, 2023): 19091–106. http://dx.doi.org/10.34119/bjhrv6n4-399.
Повний текст джерелаPedrazzani, 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, no. 8 (July 29, 2022): 1249. http://dx.doi.org/10.3390/jpm12081249.
Повний текст джерелаMiller, Jessica E., Kim W. Carter, Nicholas de Klerk, and David P. Burgner. "The familial risk of infection-related hospitalization in children: A population-based sibling study." PLOS ONE 16, no. 4 (April 28, 2021): e0250181. http://dx.doi.org/10.1371/journal.pone.0250181.
Повний текст джерелаScheftner, William A., Michael A. Young, Jean Endicott, William Coryell, Louis Fogg, David C. Clark, and Jan Fawcett. "Family History and Five-year Suicide Risk." British Journal of Psychiatry 153, no. 6 (December 1988): 805–9. http://dx.doi.org/10.1192/bjp.153.6.805.
Повний текст джерелаRice, Mabel L., Karla R. Haney, and Kenneth Wexler. "Family Histories of Children With SLI Who Show Extended Optional Infinitives." Journal of Speech, Language, and Hearing Research 41, no. 2 (April 1998): 419–32. http://dx.doi.org/10.1044/jslhr.4102.419.
Повний текст джерелаZhuang, Jianlong, Yu Zheng, Yuanbai Wang, Qianmei Zhuang, Yuying Jiang, Qingyue Xie, Shuhong Zeng та 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, № 9 (27 лютого 2020): 593–96. http://dx.doi.org/10.1136/jclinpath-2020-206426.
Повний текст джерелаMeschia, James F., Robert D. Brown, Thomas G. Brott, John Hardy, Elizabeth J. Atkinson, and Peter C. O’Brien. "Ischemic Stroke Mechanism and Likelihood of Having a Positive Family History of Stroke." Stroke 32, suppl_1 (January 2001): 361. http://dx.doi.org/10.1161/str.32.suppl_1.361-b.
Повний текст джерелаSusanti, Reka, Bhakti Karyadi, Deni Parlindungan, and 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, no. 1 (June 30, 2023): 279. http://dx.doi.org/10.33394/bioscientist.v11i1.7303.
Повний текст джерелаGrigoroiu-Serbanescu, M., and R. C. Elston. "Incongruent psychosis in bipolar i disorder: heritability and importance for genetic association studies." European Psychiatry 26, S2 (March 2011): 213. http://dx.doi.org/10.1016/s0924-9338(11)71923-x.
Повний текст джерелаHlavatá, Lucia, Ľubica Ďuďáková, Jana Moravíková, Anna Zobanová, Bohdan Kousal, and Petra Lišková. "Molecular Genetic Cause of Achromatopsia in Two Patients of Czech Origin." Czech and Slovak Ophthalmology 75, no. 5 (October 21, 2019): 272–76. http://dx.doi.org/10.31348/2019/5/5.
Повний текст джерелаFontaine, Robert, Ping Wang, and Charles Glueck. "Interaction of Heritable and Estrogen-induced Thrombophilia: Possible Etiologies for Ischemic Optic Neuropathy and Ischemic Stroke." Thrombosis and Haemostasis 85, no. 02 (2001): 256–59. http://dx.doi.org/10.1055/s-0037-1615698.
Повний текст джерелаXian, Xiaoying, Lin Liao, Wei Shu, Hongtao Li, Yuanyuan Qin, Jie Yan, Jianming Luo, and Fa-Quan Lin. "A Novel Mutation of SLC19A2 in a Chinese Zhuang Ethnic Family with Thiamine-Responsive Megaloblastic Anemia." Cellular Physiology and Biochemistry 47, no. 5 (2018): 1989–97. http://dx.doi.org/10.1159/000491467.
Повний текст джерелаVaillant, George E., George E. Vaillant, Maren Batalden, John Orav, Diane Roston, and James E. Barrett. "Evidence for a Possibly X-Linked Trait Related to Affective Illness." Australian & New Zealand Journal of Psychiatry 39, no. 8 (August 2005): 730–35. http://dx.doi.org/10.1080/j.1440-1614.2005.01658.x.
Повний текст джерелаSmith, Maria, Kristina Hwang, Julia Anne Smith, and Bhavana Pothuri. "Evaluation of proband adherence and satisfaction with a prospective cascade testing protocol." Journal of Clinical Oncology 39, no. 15_suppl (May 20, 2021): 10593. http://dx.doi.org/10.1200/jco.2021.39.15_suppl.10593.
Повний текст джерелаFYER, ABBY J., JOSHUA D. LIPSITZ, SALVATORE MANNUZZA, BONNIE ARONOWITZ, and TIMOTHY F. CHAPMAN. "A direct interview family study of obsessive–compulsive disorder. I." Psychological Medicine 35, no. 11 (July 28, 2005): 1611–21. http://dx.doi.org/10.1017/s0033291705005441.
Повний текст джерелаKendler, 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, no. 4 (July 1995): 807–14. http://dx.doi.org/10.1017/s0033291700035054.
Повний текст джерелаSham, Pak Chung, Peter Jones, Ailsa Russell, Karyna Gilvarry, Paul Bebbington, Shôn Lewis, Brian Toone, and Robin Murray. "Age at Onset, Sex, and Familial Psychiatric Morbidity in Schizophrenia." British Journal of Psychiatry 165, no. 4 (October 1994): 466–73. http://dx.doi.org/10.1192/bjp.165.4.466.
Повний текст джерелаPulver, Ann E., Kung-Yee Liang, C. Hendricks Brown, Paula Wolyniec, John McGrath, Lawrence Adler, Doreen Tam, William T. Carpenter, and Barton Childs. "Risk Factors in Schizophrenia." British Journal of Psychiatry 160, no. 1 (January 1992): 65–71. http://dx.doi.org/10.1192/bjp.160.1.65.
Повний текст джерелаZhang, 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, and 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 (May 10, 2021): 1–12. http://dx.doi.org/10.1155/2021/9973161.
Повний текст джерелаNorero, 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, no. 20 (October 9, 2019): 4980. http://dx.doi.org/10.3390/ijms20204980.
Повний текст джерелаKinnamon, 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, no. 17 (April 25, 2023): 1281–90. http://dx.doi.org/10.1161/circulationaha.122.062507.
Повний текст джерелаAnanth, 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, no. 06 (October 3, 2018): 624–31. http://dx.doi.org/10.1055/s-0038-1672177.
Повний текст джерелаSzulik, Marta W., Miguel Reyes-Múgica, Daniel F. Marker, Ana M. Gomez, Matthew D. Zinn, Leslie K. Walsh, Juan Pablo Ochoa, Sarah Franklin, and Lina Ghaloul-Gonzalez. "Identification of Two Homozygous Variants in MYBPC3 and SMYD1 Genes Associated with Severe Infantile Cardiomyopathy." Genes 14, no. 3 (March 6, 2023): 659. http://dx.doi.org/10.3390/genes14030659.
Повний текст джерелаShi, Xiao, Hao Geng, Hui Yu, Xiaolong Hu, Guanxiong Wang, Jin Yang, and Hui Zhao. "Biallelic Variants in CCDC39 Gene Lead to Primary Ciliary Dyskinesia and Kartagener Syndrome." BioMed Research International 2022 (June 26, 2022): 1–8. http://dx.doi.org/10.1155/2022/7130555.
Повний текст джерелаLi, Qian, Yongpeng Zhang, Liyun Jia, and Xiaoyan Peng. "A novel nonsense mutation in BBS4 gene identified in a Chinese family with Bardet-Biedl syndrome." Chinese Medical Journal 127, no. 24 (December 20, 2014): 4190–96. http://dx.doi.org/10.3760/cma.j.issn.0366-6999.20141359.
Повний текст джерелаQuee, P. J., B. Z. Alizadeh, A. Aleman, and 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, no. 2 (May 9, 2013): 395–405. http://dx.doi.org/10.1017/s0033291713000809.
Повний текст джерелаShigekiyo, Toshio, Hidemasa Yoshida, Kazuya Matsumoto, Hiroyuki Azuma, Sadao Wakabayashi, Shiro Saito, Kazuo Fujikawa, and Takehiko Koide. "HRG Tokushima: Molecular and Cellular Characterization of Histidine-Rich Glycoprotein (HRG) Deficiency." Blood 91, no. 1 (January 1, 1998): 128–33. http://dx.doi.org/10.1182/blood.v91.1.128.
Повний текст джерелаShigekiyo, Toshio, Hidemasa Yoshida, Kazuya Matsumoto, Hiroyuki Azuma, Sadao Wakabayashi, Shiro Saito, Kazuo Fujikawa, and Takehiko Koide. "HRG Tokushima: Molecular and Cellular Characterization of Histidine-Rich Glycoprotein (HRG) Deficiency." Blood 91, no. 1 (January 1, 1998): 128–33. http://dx.doi.org/10.1182/blood.v91.1.128.128_128_133.
Повний текст джерелаVančová, Dominika, Ľudmila Jančoková, Júlia Palovičová, and Pavol Pivovarniček. "Identifikácia chronotypov vysokoškolských študentiek." Studia sportiva 7, no. 2 (December 2, 2013): 79–84. http://dx.doi.org/10.5817/sts2013-2-9.
Повний текст джерелаRussell, MB, S. Østergaard, L. Bendtsen, and J. Olesen. "Familial Occurrence of Chronic Tension-Type Headache." Cephalalgia 19, no. 4 (May 1999): 207–10. http://dx.doi.org/10.1046/j.1468-2982.1999.019004207.x.
Повний текст джерелаNEWMAN, STEPHEN C., and ROGER C. BLAND. "A population-based family study of DSM-III generalized anxiety disorder." Psychological Medicine 36, no. 9 (May 15, 2006): 1275–81. http://dx.doi.org/10.1017/s0033291706007732.
Повний текст джерелаCardot 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, no. 10 (October 2020): 1042–50. http://dx.doi.org/10.1530/ec-20-0460.
Повний текст джерелаIreland, H., E. Thompson, and D. A. Lane. "Gene Mutations in 21 Unrelated Cases of Phenotypic Heterozygous Protein C Deficiency and Thrombosis." Thrombosis and Haemostasis 76, no. 06 (1996): 0867–73. http://dx.doi.org/10.1055/s-0038-1650677.
Повний текст джерелаVachon, Celine M., Robert Kyle, Terry Therneau, Dirk R. Larson, Colin Colby, Barbara J. Foreman, Angela Dispenzieri, Shaji Kumar, Jerry Katzmann, and 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, no. 11 (November 16, 2008): 1672. http://dx.doi.org/10.1182/blood.v112.11.1672.1672.
Повний текст джерелаPandelache, Alison, David Francis, Ralph Oertel, Rebecca Dickson, Rani Sachdev, Ling Ling, Dinusha Gamage, and 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, no. 6 (May 24, 2021): 798. http://dx.doi.org/10.3390/genes12060798.
Повний текст джерелаGraziani, Ludovico, Stefania Zampatti, Miriam Lucia Carriero, Chiara Minotti, Cristina Peconi, Mario Bengala, Emiliano Giardina, and 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, no. 8 (August 6, 2023): 1589. http://dx.doi.org/10.3390/genes14081589.
Повний текст джерелаVähäsalo, Paula, Mikael Knip, Jukka Karjalainen, Eva Tuomilehto-Wolf, Raisa Lounamaa, Hans K. Åkerblom, and _. _. "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, no. 6 (December 1996): 689–95. http://dx.doi.org/10.1530/eje.0.1350689.
Повний текст джерелаLui, 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, no. 1 (May 20, 2014): 97–108. http://dx.doi.org/10.1017/s003329171400110x.
Повний текст джерелаJacobs, 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, no. 3 (June 26, 2008): 451–61. http://dx.doi.org/10.1017/s0033291708003826.
Повний текст джерелаCapellini, Simone Aparecida, Niura Aparecida de Mouro Ribeiro Padula, Lara Cristina Antunes dos Santos, Maria Dalva Lourenceti, Erika Hasse Carrenho, and Lucilene Arilho Ribeiro. "Desempenho em consciência fonológica, memória operacional, leitura e escrita na dislexia familial." Pró-Fono Revista de Atualização Científica 19, no. 4 (December 2007): 374–80. http://dx.doi.org/10.1590/s0104-56872007000400009.
Повний текст джерелаRadecki Breitkopf, Carmen, Susan M. Wolf, Kari G. Chaffee, Marguerite E. Robinson, Noralane M. Lindor, Deborah R. Gordon, Barbara A. Koenig, and 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, no. 3 (April 27, 2018): 295–304. http://dx.doi.org/10.1177/1556264618769165.
Повний текст джерелаGoldstein, Jill M., Stephen V. Faraone, Wei J. Chen, and Ming T. Tsuang. "The Role of Gender in Understanding the Familial Transmission of Schizoaffective Disorder." British Journal of Psychiatry 163, no. 6 (December 1993): 763–68. http://dx.doi.org/10.1192/bjp.163.6.763.
Повний текст джерелаBonaventure, J., L. Cohen-Solal, P. Ritvaniemi, L. Van Maldergem, N. Kadhom, A. L. Delezoide, P. Maroteaux, D. J. Prockop, and 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, no. 3 (May 1, 1995): 823–30. http://dx.doi.org/10.1042/bj3070823.
Повний текст джерелаGrant, Robert C., Spring Holter, Ayelet Borgida, Melania Pintile, Mohammad R. Akbari, George Zogopoulos, and 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, no. 15_suppl (May 20, 2017): e15784-e15784. http://dx.doi.org/10.1200/jco.2017.35.15_suppl.e15784.
Повний текст джерелаGriffin, 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, no. 6 (June 2020): 530–41. http://dx.doi.org/10.1530/ec-20-0150.
Повний текст джерелаMoniruzzaman, Mohammad, Pallab Kumar Das, Mhabuba Akter, Jasmin Nur, Zeenat Farzana Rahman, Md Sohrab Alam, Mansura Khan, and 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, no. 2 (August 1, 2023): 143–47. http://dx.doi.org/10.3329/bmrcb.v49i2.62712.
Повний текст джерела