user

Deletion of the region containing the short stature homeobox-containing gene (SHOX) in a derived Xp22.3 translocation patient with short stature by FISH.

被引：0
|
作者：
Rao, PN
Rao, E
Weiss, B
Schwartz, R
Rahi, S
Stewart, W
Garcia-Heras, J
Pettenati, MJ
Rappold, GA
机构：
[1] Wake Forest Univ, Bowman Gray Sch Med, Winston Salem, NC USA
[2] Genet Screening & Counseling Serv, Denton, TX USA
[3] Inst Humangenet, Heidelberg, Germany
来源：
AMERICAN JOURNAL OF HUMAN GENETICS | 1997年 / 61卷 / 04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：
787
引用
收藏
页码：A138 / A138
页数：1
相关论文
共 39 条
  • [1] Combined achondroplasia and short stature homeobox-containing (SHOX) gene deletion in a Danish infant
    Seiersen, Kasper, V
    Henriksen, Tine B.
    Andelius, Ted C. K.
    Andreasen, Lotte
    Diemer, Tue
    Gudmundsdottir, Gudrun
    Vogel, Ida
    Gjorup, Vibike
    Gregersen, Pernille A.
    [J]. EUROPEAN JOURNAL OF MEDICAL GENETICS, 2024, 67
  • [2] Trisomy of the Short Stature Homeobox-Containing Gene (SHOX) due to Duplication/Deletion of the X Chomosome: Clinical Implications on the Stature
    del Rey, Graciela
    Jasper, Hector
    Viviana Bengolea, Sonia
    Boywitt, Adriana
    De Bellis, Rodolfo
    Jorge Heinrich, Juan
    [J]. HORMONE RESEARCH IN PAEDIATRICS, 2010, 74 (04): : 297 - 304
  • [3] Short stature homeobox-containing gene deletion screening by fluorescence in situ hybridisation in patients with short stature
    Müsebeck, J
    Mohnike, K
    Beye, P
    Tönnies, H
    Neitzel, H
    Schnabel, D
    Grüters, A
    Wieacker, PF
    Stumm, M
    [J]. EUROPEAN JOURNAL OF PEDIATRICS, 2001, 160 (09) : 561 - 565
  • [4] Short stature homeobox-containing gene deletion screening by fluorescence in situ hybridisation in patients with short stature
    Jörg Müsebeck
    Klaus Mohnike
    Petra Beye
    Holger Tönnies
    Heidemarie Neitzel
    Dirk Schnabel
    Anette Grüters
    Peter F. Wieacker
    Markus Stumm
    [J]. European Journal of Pediatrics, 2001, 160 : 561 - 565
  • [5] Localisation of the familial short stature gene on Xp22.3
    Raymond, FL
    Ross, BJ
    MackieOgilvie, CM
    [J]. JOURNAL OF MEDICAL GENETICS, 1997, 34 : 1205 - 1205
  • [6] Short stature in a mother and daughter with terminal deletion of Xp22.3
    Schwinger, E
    Kirschstein, M
    Greiwe, M
    Konermann, T
    Orth, U
    Gal, A
    [J]. AMERICAN JOURNAL OF MEDICAL GENETICS, 1996, 63 (01): : 239 - 242
  • [7] Trisomy of the short stature homeobox-containing gene (SHOX), resulting from a duplication-deletion of the X chromosome
    Adamson, KA
    Cross, I
    Batch, JA
    Rappold, GA
    Glass, IA
    Ball, SG
    [J]. CLINICAL ENDOCRINOLOGY, 2002, 56 (05) : 671 - 675
  • [8] SHOX:: pseudoautosomal homeobox containing gene for short stature and dyschondrosteosis
    Ogata, T
    [J]. GROWTH HORMONE & IGF RESEARCH, 1999, 9 : 53 - 57
  • [9] Two Different Variants of Short Stature Homeobox-Containing Gene (SHOX) Mutation in the Same Family
    Graf, Stefanie
    Santi, Maristella
    Losekoot, Monique
    Flueck, Christa E.
    [J]. HORMONE RESEARCH IN PAEDIATRICS, 2018, 90 : 444 - 444
  • [10] Mutations in short stature homeobox containing gene (SHOX) in dyschondrosteosis but not in hypochondroplasia
    Grigelioniene, G
    Eklöf, O
    Ivarsson, SA
    Westphal, O
    Neumeyer, L
    Kedra, D
    Dumanski, J
    Hagenäs, L
    [J]. HUMAN GENETICS, 2000, 107 (02) : 145 - 149
1234