Non-Mendelian inheritance in Bardet-Biedl syndrome: triallelism

被引：0

作者：

Perea-Romero, I. ^{[1
,2
]}

Blanco-Kelly, F. ^{[1
,2
]}

Lorda-Sanchez, I. ^{[1
]}

Sanchez-Navarro, I. ^{[3
]}

Zurita, O. ^{[1
,2
]}

Riveiro-Alvarez, R. ^{[1
,2
]}

Trujillo-Tiebas, M. ^{[1
,2
]}

Avila-Fernandez, A. ^{[1
,2
]}

Corton, M. ^{[1
,2
]}

Valverde, D. ^{[4
,5
]}

Ayuso, C. ^{[1
,2
]}

机构：

[1] Univ Autonoma Madrid IIS FJD, Inst Invest Sanitaria, Fdn Jimenez Diaz Univ Hosp, Dept Genet,UAM, Madrid, Spain

[2] ISCIII, Ctr Biomed Network Res Rare Dis CIBERER, Madrid, Spain

[3] NIMGenetics, Med Dept, Madrid, Spain

[4] Vigo Univ, Dept Biochem Genet & Immunol, Fac Biol, Pontevedra, Spain

[5] ISCIII, Ctr Biomed Network Res Rare Dis CIBERER, Pontevedra, Spain

来源：

EUROPEAN JOURNAL OF HUMAN GENETICS | 2020年 / 28卷 / SUPPL 1期

关键词：

D O I：

暂无

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

P02.05.A

引用

页码：183 / 184

页数：2

共 50 条

[21] Update on Bardet-Biedl syndrome
Dollfus, H
Verloes, A
Bonneau, D
Cossée, M
Perrin-Schmitt, F
Brandt, C
Flament, J
Mandel, JL
JOURNAL FRANCAIS D OPHTALMOLOGIE, 2005, 28 (01): : 106 - 112
[22] BARDET-BIEDL SYNDROME NEPHROPATHY
FRANCOIS, B
CAHEN, R
TROLLIET, P
CALEMARD, E
GILLY, J
DUMONTEL, C
NEPHROLOGIE, 1987, 8 (04): : 189 - 192
[23] BARDET-BIEDL SYNDROME AND KERATOCONUS
FRANCOIS, J
NEETENS, A
OPHTHALMIC PAEDIATRICS AND GENETICS, 1983, 2 (02): : 119 - 122
[24] BARDET-BIEDL SYNDROME AND CYSTINURIA
DEMARCHI, S
CECCHIN, E
BARTOLI, E
RENAL FAILURE, 1992, 14 (04) : 587 - 590
[25] Bardet-Biedl Syndrome in an Ethiopian
Tsegaw, Asamere
Teshome, Tiliksew
INTERNATIONAL MEDICAL CASE REPORTS JOURNAL, 2021, 14 : 177 - 181
[26] The Bardet-Biedl Syndrome (2024)
Cetiner, M.
Pape, L.
Koenig, J.
Oh, J.
V. Schnurbein, J.
Wiegand, S.
Grueters, A.
Kuehnen, P.
MONATSSCHRIFT KINDERHEILKUNDE, 2024,
[27] RENAL DYSPLASIA IN BARDET-BIEDL SYNDROME
Tasic, Velibor
Spahiu, Lidvana
Ristoska-Bojkovska, Nadica
Jancevska, Aleksandra
Lozanovski, Vladimir J.
Gucev, Zoran
PEDIATRIC NEPHROLOGY, 2012, 27 (09) : 1651 - 1652
[28] BARDET-BIEDL SYNDROME IN A PRETERM NEWBORN
Guzoglu, V.
Tandircioglu, A.
Aliefendioglu, D.
GENETIC COUNSELING, 2015, 26 (01): : 85 - 86
[29] A DISORDER RELATED TO BARDET-BIEDL SYNDROME
PACIUC, M
TUEME, L
ARCHIVES OF OPHTHALMOLOGY, 1982, 100 (08) : 1354 - 1354
[30] Kidney failure in Bardet-Biedl syndrome
Meyer, Jennifer R.
Krentz, Anthony D.
Berg, Richard L.
Richardson, Jesse G.
Pomeroy, Jeremy
Hebbring, Scott J.
Haws, Robert M.
CLINICAL GENETICS, 2022, 101 (04) : 429 - 441

← 1 2 3 4 5 →