Jagged1 (JAG1) Mutations in Alagille Syndrome: Increasing the Mutation Detection Rate (vol 27, pg 436, 2006)

被引：0
|
作者：
Warthen, D. M.
Moore, E. C.
Kamath, B. M.
Morrissette, J. J. D.
Sanchez-Lara, P. A.
Piccoli, D. A.
Krantz, I. D.
Spinner, N. B.
机构：
来源：
HUMAN MUTATION | 2013年 / 34卷 / 02期
关键词：
D O I：
10.1002/humu.22255
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
引用
收藏
页码：408 / 408
页数：1
相关论文
共 50 条
  • [21] Spectrum of JAG1 gene mutations in Polish patients with Alagille syndrome
    Dorota Jurkiewicz
    Dorota Gliwicz
    Elżbieta Ciara
    Jennifer Gerfen
    Magdalena Pelc
    Dorota Piekutowska-Abramczuk
    Monika Kugaudo
    Krystyna Chrzanowska
    Nancy B. Spinner
    Małgorzata Krajewska-Walasek
    Journal of Applied Genetics, 2014, 55 : 329 - 336
  • [22] Parental mosaicism of JAG1 mutations in families with Alagille syndrome.
    Kujat, A
    Röpke, A
    Hansmann, I
    Giannakudis, I
    AMERICAN JOURNAL OF HUMAN GENETICS, 1999, 65 (04) : A155 - A155
  • [23] Alagille syndrome in a 4 week old infant with JAG1 mutation
    Udoete, I. O.
    Nizami, Z.
    Altun, O.
    AMERICAN JOURNAL OF THE MEDICAL SCIENCES, 2024, 367 : S139 - S139
  • [24] Spectrum of JAG1 gene mutations in Polish patients with Alagille syndrome
    Jurkiewicz, Dorota
    Gliwicz, Dorota
    Ciara, Elzbieta
    Gerfen, Jennifer
    Pelc, Magdalena
    Piekutowska-Abramczuk, Dorota
    Kugaudo, Monika
    Chrzanowska, Krystyna
    Spinner, Nancy B.
    Krajewska-Walasek, Magorzata
    JOURNAL OF APPLIED GENETICS, 2014, 55 (03) : 329 - 336
  • [25] Erratum: Parental mosaicism of JAG1 mutations in families with Alagille syndrome
    Joannis Giannakudis
    Albrecht Röpke
    Annegret Kujat
    Malgorzata Krajewska-Walasek
    Helen Hughes
    Jean-Pierre Fryns
    Agnes Bankier
    David Amor
    Mike Schlicker
    Ingo Hansmann
    European Journal of Human Genetics, 2001, 9 : 559 - 559
  • [26] JAG1 MUTATION SPECTRUM IN CASES WITH ALAGILLE SYNDROME FROM TURKIYE
    Aslanger, Ayca Dilruba
    Yildirim, Behiye Tugce
    Kalayci, Tugba
    Senturk, Leyli
    Avci, Sahin
    Altunoglu, Umut
    Gulec, Cagri
    Karaman, Volkan
    Dogan, Guzide
    Onal, Zerrin
    Durmaz, Ozlem
    Karaman, Birsen
    Uyguner, Zehra Oya
    JOURNAL OF ISTANBUL FACULTY OF MEDICINE-ISTANBUL TIP FAKULTESI DERGISI, 2023, 86 (04): : 327 - 335
  • [27] Renal failure and hypertension in Alagille syndrome with a novel JAG1 mutation
    Harendza, S
    Hübner, CA
    Gläser, C
    Burdelski, M
    Thaiss, F
    Hansmann, I
    Gal, A
    Stahl, RAK
    JOURNAL OF NEPHROLOGY, 2005, 18 (03) : 312 - 317
  • [28] Mutation spectrum within the human JAG1 gene in Alagille syndrome
    Roepke, A
    Kujat, A
    Graeber, M
    Hansmann, I
    Giannakudis, J
    AMERICAN JOURNAL OF HUMAN GENETICS, 2000, 67 (04) : 379 - 379
  • [29] Mouse Model of Alagille Syndrome and Mechanisms of Jagged1 Missense Mutations
    Andersson, Emma R.
    Chivukula, Indira V.
    Hankeova, Simona
    Sjoqvist, Marika
    Tsoi, Yat Long
    Ramskold, Daniel
    Masek, Jan
    Elmansuri, Aiman
    Hoogendoorn, Anita
    Vazquez, Elenae
    Storvall, Helena
    Netusilova, Julie
    Huch, Meritxell
    Fischler, Bjorn
    Ellis, Ewa
    Contreras, Adriana
    Nemeth, Antal
    Chien, Kenneth C.
    Clevers, Hans
    Sandberg, Rickard
    Bryja, Vitezslav
    Lendahl, Urban
    GASTROENTEROLOGY, 2018, 154 (04) : 1080 - 1095
  • [30] Fifteen Novel Mutations in the JAGGED1 Gene of Patients With Alagille Syndrome
    Crosnier, Cecile
    Driancourt, Catherine
    Raynaud, Nicole
    Hadchouel, Michelle
    Meunier-Rotival, Michele
    HUMAN MUTATION, 2001, 17 (01) : 72 - 73
12345