BECKWITH-WIEDEMANN SYNDROME - CLINICAL COMPARISON BETWEEN PATIENTS WITH AND WITHOUT 11P15 TRISOMY

被引：0
|
作者：
TURLEAU, C
DEGROUCHY, J
机构：
来源：
ANNALES DE GENETIQUE | 1985年 / 28卷 / 02期
关键词：
D O I：
暂无
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
引用
收藏
页码：93 / 96
页数：4
相关论文
共 50 条
  • [21] Congenital hyperinsulinism in an infant with paternal uniparental disomy on chromosome 11p15: Few clinical features suggestive of Beckwith-Wiedemann syndrome
    Adachi, Hiroyuki
    Takahashi, Ikuko
    Higashimoto, Ken
    Tsuchida, Satoko
    Noguchi, Atsuko
    Tamura, Hiroaki
    Arai, Hirokazu
    Ito, Tomoo
    Masue, Michiya
    Nishibori, Hironori
    Takahashi, Tsutomu
    Soejima, Hidenobu
    ENDOCRINE JOURNAL, 2013, 60 (04) : 403 - 408
  • [22] The epigenetic imprinting defect of patients with Beckwith-Wiedemann syndrome born after assisted reproductive technology is not restricted to the 11p15 region
    Rossignol, S.
    Steunou, V.
    Chalas, C.
    Kerjean, A.
    Rigolet, M.
    Viegas-Pequignot, E.
    Jouannet, P.
    Le Bouc, Y.
    Gicquel, C.
    JOURNAL OF MEDICAL GENETICS, 2006, 43 (12) : 902 - 907
  • [23] 11p15 duplication and 13q34 deletion with Beckwith-Wiedemann syndrome and factor VII deficiency
    Jurkiewicz, Dorota
    Kugaudo, Monika
    Tanska, Anna
    Wawrzkiewicz-Witkowska, Angelika
    Tomaszewska, Agnieszka
    Kucharczyk, Marzena
    Cieslikowska, Agata
    Ciara, Elzbieta
    Krajewska-Walasek, Malgorzata
    PEDIATRICS INTERNATIONAL, 2015, 57 (03) : 486 - 491
  • [24] Monozygotic twins discordant for the Beckwith-Wiedemann syndrome exhibit the same epigenetic defect at the 11p15 locus.
    Gicquel, C
    Gaston, V
    Sarda, P
    Soupre, V
    Vazquez, MP
    Le Bouc, Y
    AMERICAN JOURNAL OF HUMAN GENETICS, 2001, 69 (04) : 570 - 570
  • [25] Severe presentation of Beckwith-Wiedemann syndrome associated with high levels of constitutional paternal uniparental disomy for chromosome 11p15
    Smith, Adam C.
    Shuman, Cheryl
    Chitayat, David
    Steele, Leslie
    Ray, Peter N.
    Bourgeois, Jaqueline
    Weksberg, Rosanna
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2007, 143A (24) : 3010 - 3015
  • [26] Nonimmune fetal hydrops and placentomegaly: Diagnosis of familial Wiedemann-Beckwith syndrome with trisomy 11p15 using FISH
    Drut, RM
    Drut, R
    AMERICAN JOURNAL OF MEDICAL GENETICS, 1996, 62 (02): : 145 - 149
  • [27] Multiple genetic loci within 11p15 defined by Beckwith-Wiedemann syndrome rearrangement breakpoints and subchromosomal transferable fragments
    Hoovers, J. M. N.
    Kalikin, L. M.
    Johnson, L. A.
    Alders, M.
    Proceedings of the National Academy of Sciences of the United States of America, 92 (26):
  • [28] Multiple genetic loci within 11p15 defined by Beckwith-Wiedemann syndrome rearrangement breakpoints and subchromosomal transferable fragments
    Hoovers, JMN
    Kalikin, LM
    Johnson, LA
    Alders, M
    Redeker, B
    Law, DJ
    Bliek, J
    Steenman, M
    Benedict, M
    Wiegant, J
    Lengauer, C
    TaillonMiller, P
    Schlessinger, D
    Edwards, MC
    Elledge, SJ
    Ivens, A
    Westerveld, A
    Little, P
    Mannens, M
    Feinberg, AP
    PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1995, 92 (26) : 12456 - 12460
  • [29] Silver-Russell and Beckwith-Wiedemann Syndromes: Opposite (Epi)Mutations in 11p15 Result in Opposite Clinical Pictures
    Eggermann, Thomas
    HORMONE RESEARCH, 2009, 71 : 30 - 35
  • [30] A case of Beckwith-Wiedemann syndrome caused by a cryptic 11p15 deletion encompassing the centromeric imprinted domain of the BWS locus
    Zollino, Marcella
    Orteschi, Daniela
    Marangi, Giuseppe
    De Crescenzo, Agostina
    Pecile, Vanna
    Riccio, Andrea
    Neri, Giovanni
    JOURNAL OF MEDICAL GENETICS, 2010, 47 (06) : 429 - 432
12345