Clinical and Genetic Findings of Autosomal Recessive Bestrophinopathy (ARB) (vol 10, 953, 2019)

被引：0

作者：

Habibi, Imen ^{[1
]}

Falfoul, Yosra ^{[2
]}

Todorova, Margarita G. ^{[3
,4
]}

Wyrsch, Stefan ^{[5
]}

Vaclavik, Veronika ^{[6
]}

Helfenstein, Maria ^{[5
]}

Turki, Ahmed ^{[2
]}

El Matri, Khaled ^{[2
]}

El Matri, Leila ^{[2
]}

Schorderet, Daniel F. ^{[1
,7
,8
]}

机构：

[1] IRO Inst Res Ophthalmol, CH-1950 Sion, Switzerland

[2] Hedi Rais Inst Ophthalmol, Oculogenet Lab LR14SP01, Dept B, Tunis 1007, Tunisia

[3] Cantonal Hosp St Gallen, Dept Ophthalmol, CH-9000 St Gallen, Switzerland

[4] Univ Basel, Dept Ophthalmol, CH-4000 Basel, Switzerland

[5] Lucerne Cantonal Hosp, Eye Clin, CH-6000 Luzern, Switzerland

[6] Jules Gonin Eye Hosp, CH-1004 Lausanne, Switzerland

[7] Univ Lausanne, Dept Ophthalmol, CH-1004 Lausanne, Switzerland

[8] Ecole Polytech Fed Lausanne, Fac Life Sci, CH-1004 Lausanne, Switzerland

来源：

GENES | 2020年 / 11卷 / 05期

关键词：

D O I：

10.3390/genes11050503

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

引用

页数：1

共 50 条

[31] Clinical and genetic heterogeneity in autosomal recessive nemaline myopathy
Wallgren-Pettersson, C
Pelin, K
Hilpelä, P
Donner, K
Porfirio, B
Graziano, C
Swoboda, KJ
Fardeau, M
Urtizberea, JA
Muntoni, F
Sewry, C
Dubowitz, V
Iannaccone, S
Minetti, C
Pedemonte, M
Seri, M
Cusano, R
Lammens, M
Castagna-Sloane, A
Beggs, AH
Laing, NG
de la Chapelle, A
NEUROMUSCULAR DISORDERS, 1999, 9 (08) : 564 - 572
[32] Clinical features and genetic analysis of autosomal recessive hypercholesterolemia
Harada-Shiba, M
Takagi, A
Miyamoto, Y
Tsushima, M
Ikeda, Y
Yokoyama, S
Yamamoto, A
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 2003, 88 (06): : 2541 - 2547
[33] Clinical and genetic description of autosomal recessive pacrygyria.
Ramirez, D
JOURNAL OF INVESTIGATIVE MEDICINE, 2003, 51 : S150 - S150
[34] Novel Clinical and Radiological Findings in a Family with Autosomal Recessive Omodysplasia
Bayat, Allan
Duno, Morton
Kirchhoff, Maria
Jorgensen, Finn S.
Nishimura, Gen
Hove, Hanne B.
MOLECULAR SYNDROMOLOGY, 2020, 11 (02) : 83 - 89
[35] Clinical and genetic findings of a Japanese patient with RP1-related autosomal recessive retinitis pigmentosa
Kurata, Kentaro
Hosono, Katsuhiro
Hotta, Yoshihiro
DOCUMENTA OPHTHALMOLOGICA, 2018, 137 (01) : 47 - 56
[36] Clinical and genetic findings of a Japanese patient with RP1-related autosomal recessive retinitis pigmentosa
Kentaro Kurata
Katsuhiro Hosono
Yoshihiro Hotta
Documenta Ophthalmologica, 2018, 137 : 47 - 56
[37] Induced Pluripotent Stem Cell Modeling of Best Disease and Autosomal Recessive Bestrophinopathy (vol 61, pg 816, 2020)
Lee, J. H.
YONSEI MEDICAL JOURNAL, 2020, 61 (11) : 989 - 989
[38] Autosomal recessive Bethlem myopathy: A clinical, genetic and functional study
Caria, Filomena
Cescon, Matilde
Gualandi, Francesca
Pichiecchio, Anna
Rossi, Rachele
Rimessi, Paola
Piccinelli, Stefano Cotti
Cassarino, Serena Gallo
Gregorio, Ilaria
Galvagni, Anna
Ferlini, Alessandra
Padovani, Alessandro
Bonaldo, Paolo
Filosto, Massimiliano
NEUROMUSCULAR DISORDERS, 2019, 29 (09) : 657 - 663
[39] Autosomal recessive microcephaly with neonatal myoclonic seizures: Clinical and MRI findings
Straussberg, R
Kornreich, L
Harel, L
Varsano, I
AMERICAN JOURNAL OF MEDICAL GENETICS, 1998, 80 (02): : 136 - 139
[40] Autosomal recessive congenital ichthyosis in Sweden and Estonia:: Clinical, genetic and ultrastructural findings in eighty-three patients
Gånemo, A
Pigg, M
Virtanen, M
Kukk, T
Raudsepp, H
Rossman-Ringdahl, I
Westermark, P
Niemi, KM
Dahl, N
Vahlquist, A
ACTA DERMATO-VENEREOLOGICA, 2003, 83 (01) : 24 - 30

← 1 2 3 4 5 →