Works matching AU Friedman, Eitan


Results: 237
    1
    2
    3
    4
    5

    Re‐evaluating the pathogenicity of the c.783+2T>C BAP1 germline variant.

    Published in:
    Human Mutation, 2021, v. 42, n. 5, p. 592, doi. 10.1002/humu.24189
    By:
    • Goldberg, Yael;
    • Laitman, Yael;
    • Ben David, Merav;
    • Bazak, Lily;
    • Lidzbarsky, Gabriel;
    • Salmon, Lina B.;
    • Shkedi‐Rafid, Shiri;
    • Barshack, Iris;
    • Avivi, Camila;
    • Darawshe, Malak;
    • Shomron, Noam;
    • Bruchim, Revital;
    • Vinkler, Chana;
    • Yannoukakos, Drakoulis;
    • Fostira, Florentia;
    • Bernstein‐Molho, Rinat;
    • Friedman, Eitan
    Publication type:
    Article
    6

    Mutational spectrum in a worldwide study of 29,700 families with <italic>BRCA1</italic> or <italic>BRCA2</italic> mutations.

    Published in:
    Human Mutation, 2018, v. 39, n. 5, p. 593, doi. 10.1002/humu.23406
    By:
    • Rebbeck, Timothy R.;
    • Friebel, Tara M.;
    • Friedman, Eitan;
    • Hamann, Ute;
    • Huo, Dezheng;
    • Kwong, Ava;
    • Olah, Edith;
    • Olopade, Olufunmilayo I.;
    • Solano, Angela R.;
    • Teo, Soo‐Hwang;
    • Thomassen, Mads;
    • Weitzel, Jeffrey N.;
    • Chan, T. L.;
    • Couch, Fergus J.;
    • Goldgar, David E.;
    • Kruse, Torben A.;
    • Palmero, Edenir Inêz;
    • Park, Sue Kyung;
    • Torres, Diana;
    • van Rensburg, Elizabeth J.
    Publication type:
    Article
    7
    8
    9
    10
    11
    12
    13

    Mutational analyses of BRCA1 and BRCA2 in Ashkenazi and non-Ashkenazi Jewish women with familial breast and ovarian cancer.

    Published in:
    Human Mutation, 2000, v. 16, n. 6, p. 491, doi. 10.1002/1098-1004(200012)16:6&lt;491::AID-HUMU6&gt;3.0.CO;2-J
    By:
    • Shiri-Sverdlov, Ronit;
    • Oefner, Peter;
    • Green, Limor;
    • Baruch, Ruth Gershoni;
    • Wagner, Teresa;
    • Kruglikova, Anna;
    • Haitchick, Samario;
    • Hofstra, Robert M.W.;
    • Papa, Moshe Z.;
    • Mulder, Inge;
    • Rizel, Shulamit;
    • Bar Sade, Revital Bruchim;
    • Dagan, Efrat;
    • Abdeen, Ziad;
    • Goldman, Boleslaw;
    • Friedman, Eitan
    Publication type:
    Article
    14
    15

    CYP2A6 genetic variation and dexmedetomidine disposition.

    Published in:
    European Journal of Clinical Pharmacology, 2012, v. 68, n. 6, p. 937, doi. 10.1007/s00228-011-1208-z
    By:
    • Kohli, Utkarsh;
    • Pandharipande, Pratik;
    • Muszkat, Mordechai;
    • Sofowora, Gbenga;
    • Friedman, Eitan;
    • Scheinin, Mika;
    • Wood, Alastair;
    • Ely, E.;
    • Tyndale, Rachel;
    • Choi, Leena;
    • Stein, C.;
    • Kurnik, Daniel
    Publication type:
    Article
    16
    17
    18
    19
    20
    21
    22
    23
    24

    Clinical Characteristics and Prognosis of Gastric Cancer Patients with BRCA 1/2 Germline Mutations: Report of Ten Cases and a Literature Review.

    Published in:
    OncoTargets & Therapy, 2020, v. 13, p. 11637, doi. 10.2147/OTT.S276814
    By:
    • Halpern, Naama;
    • Grinshpun, Albert;
    • Boursi, Ben;
    • Golan, Talia;
    • Margalit, Ofer;
    • Aderka, Dan;
    • Friedman, Eitan;
    • Laitman, Yael;
    • Hubert, Ayala;
    • Kadouri, Luna;
    • Hamburger, Tamar;
    • Barnes-Kedar, Inbal;
    • Levi, Zohar;
    • Ben-Aharon, Irit;
    • Brenner, Baruch;
    • Goldberg, Yael;
    • Peretz, Tamar;
    • Shacham-Shmueli, Einat
    Publication type:
    Article
    25
    26

    Two p16 (CDKN2A) germline mutations in 30 Israeli melanoma families.

    Published in:
    European Journal of Human Genetics, 2000, v. 8, n. 8, p. 590, doi. 10.1038/sj.ejhg.5200505
    By:
    • Yakobson, Emanuel;
    • Shemesh, Pnina;
    • Azizi, Esther;
    • Winkler, Eyal;
    • Lassam, Norman;
    • Hogg, David;
    • Brookes, Sharon;
    • Peters, Gordon;
    • Lotem, Michal;
    • Zlotogorski, Abraham;
    • Landau, Marina;
    • Safro, Mark;
    • Shafir, Raphael;
    • Friedman, Eitan;
    • Peretz, Hava
    Publication type:
    Article
    27
    28

    Germline mutational analysis of presenilin 1 and APP genes in Jewish-Israeli individuals with familial or early-onset Alzheimer disease using denaturing gradient gel electrophoresis (DGGE).

    Published in:
    European Journal of Human Genetics, 1998, v. 6, n. 2, p. 176, doi. 10.1038/sj.ejhg.5200160
    By:
    • Reznik-Wolf, Haike;
    • Treves, Therese A;
    • Shabtai, Herzel;
    • Aharon-Peretz, Judith;
    • Chapman, Joab;
    • Davidson, Michael;
    • Barkai, Gad;
    • St George Hyslop, Peter H;
    • Goldman, Boleslaw;
    • Korczyn, Amos D;
    • Friedman, Eitan
    Publication type:
    Article
    29
    30
    31

    Bilateral Peters' anomaly, aniridia and Wilms tumour (WAGR syndrome) in monozygotic twins.

    Published in:
    Acta Paediatrica, 2024, v. 113, n. 6, p. 1420, doi. 10.1111/apa.17160
    By:
    • Cronemberger, Sebastião;
    • Albuquerque, Anna L. B.;
    • Simões e. Silva, Ana Cristina;
    • Soares Santos Zanini, Jovita Lane;
    • Gonçalves da Silva, Alexandre Higino;
    • Barbosa, Luciana F.;
    • Rubião, Francine da Cunha;
    • de Lima, Felipe L.;
    • Fonseca Casimiro, Rossana;
    • Placedino Martins, Márcio;
    • Diniz-Filho, Alberto;
    • Bastos Rodrigues, Luciana;
    • Friedman, Eitan;
    • De Marco, Luiz
    Publication type:
    Article
    32

    Genome-wide association study identifies a common variant in RAD51B associated with male breast cancer risk.

    Published in:
    Nature Genetics, 2012, v. 44, n. 11, p. 1182, doi. 10.1038/ng.2417
    By:
    • Orr, Nick;
    • Lemnrau, Alina;
    • Cooke, Rosie;
    • Fletcher, Olivia;
    • Tomczyk, Katarzyna;
    • Jones, Michael;
    • Johnson, Nichola;
    • Lord, Christopher J;
    • Mitsopoulos, Costas;
    • Zvelebil, Marketa;
    • McDade, Simon S;
    • Buck, Gemma;
    • Blancher, Christine;
    • Trainer, Alison H;
    • James, Paul A;
    • Bojesen, Stig E;
    • Bokmand, Susanne;
    • Nevanlinna, Heli;
    • Mattson, Johanna;
    • Friedman, Eitan
    Publication type:
    Article
    33
    34

    Microsatellite Instability in Sporadic Parathyroid Adenoma.

    Published in:
    Journal of Clinical Endocrinology & Metabolism, 2000, v. 85, n. 1, p. 250, doi. 10.1210/jc.85.1.250
    By:
    • SARQUIS, MARTA;
    • FRIEDMAN, EITAN;
    • BOSON, WOLFANGA L.;
    • GOMEZ, RICARDO S.;
    • DIAS, ADALBERTO F.;
    • DE MARCO, LUIZ
    Publication type:
    Article
    35
    36
    37
    38
    39
    40
    41
    42
    43
    44
    45
    46
    47
    48

    Whole-exome identifies germline variants in families with obstructive sleep apnea syndrome.

    Published in:
    Frontiers in Genetics, 2023, p. 1, doi. 10.3389/fgene.2023.1137817
    By:
    • Guimarães de Azevedo, Pedro;
    • Rabelo Guimarães, Maria de Lourdes;
    • Braga Albuquerque, Anna Luiza;
    • Benfica Alves, Rayane;
    • Gomes Fernandes, Bianca;
    • Marques de Melo, Flavia;
    • Do Carmo Lisboa Cardenas, Raony Guimaraes Corrêa;
    • Friedman, Eitan;
    • De Marco, Luiz;
    • Bastos-Rodrigues, Luciana
    Publication type:
    Article
    49
    50