共 6 条
[1]
Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis
[J].
Krakow, D
;
Robertson, SP
;
King, LM
;
Morgan, T
;
Sebald, ET
;
Bertolotto, C
;
Wachsmann-Hogiu, S
;
Acuna, D
;
Shapiro, SS
;
Takafuta, T
;
Aftimos, S
;
Kim, CA
;
Firth, H
;
Steiner, CE
;
Cormier-Daire, V
;
Superti-Furga, A
;
Bonafe, L
;
Graham, JM
;
Grix, A
;
Bacino, CA
;
Allanson, J
;
Bialer, MG
;
Lachman, RS
;
Rimoin, DL
;
Cohn, DH
.
NATURE GENETICS,
2004, 36 (04)
:405-410

Krakow, D
论文数: 0 引用数: 0
h-index: 0
机构: Cedars Sinai Res Inst, Dept Obstet & Gynecol, Los Angeles, CA 90048 USA

Robertson, SP
论文数: 0 引用数: 0
h-index: 0
机构: Cedars Sinai Res Inst, Dept Obstet & Gynecol, Los Angeles, CA 90048 USA

King, LM
论文数: 0 引用数: 0
h-index: 0
机构: Cedars Sinai Res Inst, Dept Obstet & Gynecol, Los Angeles, CA 90048 USA

Morgan, T
论文数: 0 引用数: 0
h-index: 0
机构: Cedars Sinai Res Inst, Dept Obstet & Gynecol, Los Angeles, CA 90048 USA

Sebald, ET
论文数: 0 引用数: 0
h-index: 0
机构: Cedars Sinai Res Inst, Dept Obstet & Gynecol, Los Angeles, CA 90048 USA

Bertolotto, C
论文数: 0 引用数: 0
h-index: 0
机构: Cedars Sinai Res Inst, Dept Obstet & Gynecol, Los Angeles, CA 90048 USA

Wachsmann-Hogiu, S
论文数: 0 引用数: 0
h-index: 0
机构: Cedars Sinai Res Inst, Dept Obstet & Gynecol, Los Angeles, CA 90048 USA

Acuna, D
论文数: 0 引用数: 0
h-index: 0
机构: Cedars Sinai Res Inst, Dept Obstet & Gynecol, Los Angeles, CA 90048 USA

Shapiro, SS
论文数: 0 引用数: 0
h-index: 0
机构: Cedars Sinai Res Inst, Dept Obstet & Gynecol, Los Angeles, CA 90048 USA

Takafuta, T
论文数: 0 引用数: 0
h-index: 0
机构: Cedars Sinai Res Inst, Dept Obstet & Gynecol, Los Angeles, CA 90048 USA

Aftimos, S
论文数: 0 引用数: 0
h-index: 0
机构: Cedars Sinai Res Inst, Dept Obstet & Gynecol, Los Angeles, CA 90048 USA

Kim, CA
论文数: 0 引用数: 0
h-index: 0
机构: Cedars Sinai Res Inst, Dept Obstet & Gynecol, Los Angeles, CA 90048 USA

Firth, H
论文数: 0 引用数: 0
h-index: 0
机构: Cedars Sinai Res Inst, Dept Obstet & Gynecol, Los Angeles, CA 90048 USA

Steiner, CE
论文数: 0 引用数: 0
h-index: 0
机构: Cedars Sinai Res Inst, Dept Obstet & Gynecol, Los Angeles, CA 90048 USA

Cormier-Daire, V
论文数: 0 引用数: 0
h-index: 0
机构: Cedars Sinai Res Inst, Dept Obstet & Gynecol, Los Angeles, CA 90048 USA

Superti-Furga, A
论文数: 0 引用数: 0
h-index: 0
机构: Cedars Sinai Res Inst, Dept Obstet & Gynecol, Los Angeles, CA 90048 USA

Bonafe, L
论文数: 0 引用数: 0
h-index: 0
机构: Cedars Sinai Res Inst, Dept Obstet & Gynecol, Los Angeles, CA 90048 USA

Graham, JM
论文数: 0 引用数: 0
h-index: 0
机构: Cedars Sinai Res Inst, Dept Obstet & Gynecol, Los Angeles, CA 90048 USA

Grix, A
论文数: 0 引用数: 0
h-index: 0
机构: Cedars Sinai Res Inst, Dept Obstet & Gynecol, Los Angeles, CA 90048 USA

Bacino, CA
论文数: 0 引用数: 0
h-index: 0
机构: Cedars Sinai Res Inst, Dept Obstet & Gynecol, Los Angeles, CA 90048 USA

Allanson, J
论文数: 0 引用数: 0
h-index: 0
机构: Cedars Sinai Res Inst, Dept Obstet & Gynecol, Los Angeles, CA 90048 USA

Bialer, MG
论文数: 0 引用数: 0
h-index: 0
机构: Cedars Sinai Res Inst, Dept Obstet & Gynecol, Los Angeles, CA 90048 USA

Lachman, RS
论文数: 0 引用数: 0
h-index: 0
机构: Cedars Sinai Res Inst, Dept Obstet & Gynecol, Los Angeles, CA 90048 USA

Rimoin, DL
论文数: 0 引用数: 0
h-index: 0
机构: Cedars Sinai Res Inst, Dept Obstet & Gynecol, Los Angeles, CA 90048 USA

Cohn, DH
论文数: 0 引用数: 0
h-index: 0
机构: Cedars Sinai Res Inst, Dept Obstet & Gynecol, Los Angeles, CA 90048 USA
[2]
Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans
[J].
Robertson, SP
;
Twigg, SRF
;
Sutherland-Smith, AJ
;
Biancalana, V
;
Gorlin, RJ
;
Horn, D
;
Kenwrick, SJ
;
Kim, CA
;
Morava, E
;
Newbury-Ecob, R
;
Orstavik, KH
;
Quarrell, OWJ
;
Schwartz, CE
;
Shears, DJ
;
Suri, M
;
Kendrick-Jones, J
;
Wilkie, AOM
.
NATURE GENETICS,
2003, 33 (04)
:487-491

Robertson, SP
论文数: 0 引用数: 0
h-index: 0
机构: City Hosp, Clin Genet Serv, Nottingham NG5 1PB, England

Twigg, SRF
论文数: 0 引用数: 0
h-index: 0
机构: City Hosp, Clin Genet Serv, Nottingham NG5 1PB, England

Sutherland-Smith, AJ
论文数: 0 引用数: 0
h-index: 0
机构: City Hosp, Clin Genet Serv, Nottingham NG5 1PB, England

Biancalana, V
论文数: 0 引用数: 0
h-index: 0
机构: City Hosp, Clin Genet Serv, Nottingham NG5 1PB, England

论文数: 引用数:
h-index:
机构:

Horn, D
论文数: 0 引用数: 0
h-index: 0
机构: City Hosp, Clin Genet Serv, Nottingham NG5 1PB, England

Kenwrick, SJ
论文数: 0 引用数: 0
h-index: 0
机构: City Hosp, Clin Genet Serv, Nottingham NG5 1PB, England

Kim, CA
论文数: 0 引用数: 0
h-index: 0
机构: City Hosp, Clin Genet Serv, Nottingham NG5 1PB, England

Morava, E
论文数: 0 引用数: 0
h-index: 0
机构: City Hosp, Clin Genet Serv, Nottingham NG5 1PB, England

Newbury-Ecob, R
论文数: 0 引用数: 0
h-index: 0
机构: City Hosp, Clin Genet Serv, Nottingham NG5 1PB, England

Orstavik, KH
论文数: 0 引用数: 0
h-index: 0
机构: City Hosp, Clin Genet Serv, Nottingham NG5 1PB, England

Quarrell, OWJ
论文数: 0 引用数: 0
h-index: 0
机构: City Hosp, Clin Genet Serv, Nottingham NG5 1PB, England

Schwartz, CE
论文数: 0 引用数: 0
h-index: 0
机构: City Hosp, Clin Genet Serv, Nottingham NG5 1PB, England

Shears, DJ
论文数: 0 引用数: 0
h-index: 0
机构: City Hosp, Clin Genet Serv, Nottingham NG5 1PB, England

Suri, M
论文数: 0 引用数: 0
h-index: 0
机构: City Hosp, Clin Genet Serv, Nottingham NG5 1PB, England

Kendrick-Jones, J
论文数: 0 引用数: 0
h-index: 0
机构: City Hosp, Clin Genet Serv, Nottingham NG5 1PB, England

Wilkie, AOM
论文数: 0 引用数: 0
h-index: 0
机构: City Hosp, Clin Genet Serv, Nottingham NG5 1PB, England
[3]
Considerations for a multiaxis nomenclature system for medical genetics
[J].
Robin, NH
;
Biesecker, LG
.
GENETICS IN MEDICINE,
2001, 3 (04)
:290-293

Robin, NH
论文数: 0 引用数: 0
h-index: 0
机构: Case Western Reserve Univ, Univ Hosp Cleveland, Sch Med, Dept Genet, Cleveland, OH 44106 USA

Biesecker, LG
论文数: 0 引用数: 0
h-index: 0
机构: Case Western Reserve Univ, Univ Hosp Cleveland, Sch Med, Dept Genet, Cleveland, OH 44106 USA
[4]
Smith, 1997, SMITHS RECOGNIZABLE
[5]
Spranger J., 2002, BONE DYSPLASIAS ATLA, V2nd
[6]
Taybi H, 1996, RADIOLOGY SYNDROMES
