Genotype/phenotype correlations in split hand foot malformation (SHFM)

被引：0
|
作者：
Elliott, AM
Reed, MH
Evans, JA
机构：
[1] Univ Manitoba, Dept Biochem & Med Genet, Winnipeg, MB, Canada
[2] Childrens Hosp, Dept Radiol, Winnipeg, MB R3A 1S1, Canada
[3] Childrens Hosp, Dept Pediat & Child Hlth, Winnipeg, MB R3A 1S1, Canada
来源：
AMERICAN JOURNAL OF HUMAN GENETICS | 2003年 / 73卷 / 05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：
686
引用
收藏
页码：287 / 287
页数：1
相关论文
共 50 条
  • [31] Homozygous Nonsense Mutation in WNT10B and Sporadic Split-Hand/Foot Malformation (SHFM) With Autosomal Recessive Inheritance
    Blattner, Ariane
    Huber, Andreas R.
    Roethlisberger, Benno
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2010, 152A (08) : 2053 - 2056
  • [32] A genomic rearrangement resulting in a tandem duplication is associated with split hand-split foot malformation 3 (SHFM3) at 10q24
    de Mollerat, XJ
    Gurrieri, F
    Morgan, CT
    Sangiorgi, E
    Everman, DB
    Gaspari, P
    Amiel, J
    Bamshad, MJ
    Lyle, R
    Blouin, JL
    Allanson, JE
    Le Marec, B
    Wilson, M
    Braverman, NE
    Radhakrishna, U
    Delozier-Blanchet, C
    Abbott, A
    Elghouzzi, V
    Antonarakis, S
    Stevenson, RE
    Munnich, A
    Neri, G
    Schwartz, CE
    HUMAN MOLECULAR GENETICS, 2003, 12 (16) : 1959 - 1971
  • [33] The 10q24-linked split hand/split foot syndrome (SHFM3): Narrowing of the critical region and confirmation of the clinical phenotype
    Roscioli, T
    Taylor, PJ
    Bohlken, A
    Donald, JA
    Masel, J
    Glass, IA
    Buckley, MF
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2004, 124A (02) : 136 - 141
  • [34] Critical Role of Split Hand/Foot Malformation Type 1 (SHFM1) in Homologous Recombination and Cell Survival in Multiple Myeloma (MM)
    Nanjappa, Purushothama
    Kumar, Subodh
    Talluri, Srikanth
    Ahmad, Humza
    Bajwa, Ahsun
    Shi, Jialan
    Gonzalez, Gabriel
    Magrangeas, Florence
    Minvielle, Stephane
    Anderson, Kenneth C.
    Avet-Loiseau, Herve
    Shammas, Masood
    Munshi, Nikhil C.
    BLOOD, 2015, 126 (23)
  • [35] HETEROGENEITY OF THE AUTOSOMAL-DOMINANT SPLIT HAND SPLIT FOOT MALFORMATION - REPLY
    EVANS, JP
    PALMER, S
    SCHERER, SW
    KUKOLICH, M
    WIJSMAN, EM
    TSUI, LC
    STEPHENS, K
    AMERICAN JOURNAL OF HUMAN GENETICS, 1995, 56 (01) : 342 - 343
  • [36] Split hand and foot malformation: ultrasound detection in the first trimester
    Lapaire, O
    Schiesser, M
    Peukert, R
    Holzgreve, W
    Tercanli, S
    ULTRASOUND IN OBSTETRICS & GYNECOLOGY, 2002, 20 (05) : 511 - 512
  • [37] Mouse model of split hand/foot malformation type I
    Merlo, GR
    Paleari, L
    Mantero, S
    Genova, F
    Beverdam, A
    Palmisano, GL
    Barbieri, O
    Levi, G
    GENESIS, 2002, 33 (02) : 97 - 101
  • [38] Bilateral split hand foot malformation in siblings: Case series
    Ashi, Mohammed
    Assur, Rehab
    Awan, Basim
    Aljaaly, Hattan
    INTERNATIONAL JOURNAL OF SURGERY CASE REPORTS, 2018, 44 : 114 - 117
  • [39] Split Hand/Foot Malformation: A Case Report and Review of Literature
    Chauhan, Divya
    Singh, Alpana
    JOURNAL OF CLINICAL AND DIAGNOSTIC RESEARCH, 2019, 13 (01) : QD5 - QD6
  • [40] Genetic regulatory pathways of split-hand/foot malformation
    Kantaputra, Piranit N.
    Carlson, Bruce M.
    CLINICAL GENETICS, 2019, 95 (01) : 132 - 139
12345