Characterization of new arylsulfatase A gene mutations reinforces genotype-phenotype correlation in metachromatic leukodystrophy

Identification of 12 novel mutations and two new polymorphisms in the arylsulfatase A gene: Haplotype and genotype-phenotype correlation studies in spanish metachromatic leukodystrophy patients

Human Mutation ◽

10.1002/(sici)1098-1004(1999)14:3<240::aid-humu7>3.0.co;2-l ◽

1999 ◽

Vol 14 (3) ◽

pp. 240-248 ◽

Cited By ~ 30

Author(s):

Laura Gort ◽

M. Josep Coll ◽

Amparo Chab�s

Keyword(s):

Metachromatic Leukodystrophy ◽

Arylsulfatase A ◽

Phenotype Correlation ◽

Novel Mutations ◽

Correlation Studies ◽

Gene Haplotype

A bioinformatics framework for genotype–phenotype correlation in humans with Marfan syndrome caused by FBN1 gene mutations

Journal of Biomedical Informatics ◽

10.1016/j.jbi.2005.06.001 ◽

2006 ◽

Vol 39 (2) ◽

pp. 171-183 ◽

Cited By ~ 8

Author(s):

Christian Baumgartner ◽

Gábor Mátyás ◽

Beat Steinmann ◽

Martin Eberle ◽

Jörg I. Stein ◽

...

Keyword(s):

Marfan Syndrome ◽

Gene Mutations ◽

Phenotype Correlation ◽

Fbn1 Gene ◽

Genotype–phenotype correlation of PAX6 gene mutations in aniridia

Human Genome Variation ◽

10.1038/hgv.2015.52 ◽

2016 ◽

Vol 3 (1) ◽

Cited By ~ 25

Author(s):

Tadashi Yokoi ◽

Sachiko Nishina ◽

Maki Fukami ◽

Tsutomu Ogata ◽

Katsuhiro Hosono ◽

...

Keyword(s):

Gene Mutations ◽

Pax6 Gene ◽

Phenotype Correlation ◽

Molecular characterization of myophosphorylase deficiency (McArdle disease) in 34 patients from Southern France: Identification of 10 new mutations. Absence of genotype–phenotype correlation

Neuromuscular Disorders ◽

10.1016/j.nmd.2006.12.014 ◽

2007 ◽

Vol 17 (3) ◽

pp. 235-241 ◽

Cited By ~ 30

Author(s):

Robert Aquaron ◽

Jean-louis Bergé-Lefranc ◽

Jean-Francois Pellissier ◽

Marie-France Montfort ◽

Michèle Mayan ◽

...

Keyword(s):

Molecular Characterization ◽

Phenotype Correlation ◽

Southern France ◽

Mcardle Disease ◽

New Mutations

Functional and structural characterization of novel mutations and genotype-phenotype correlation in 51 phenylalanine hydroxylase deficient families from Southern Italy

FEBS Journal ◽

10.1111/j.1742-4658.2009.06940.x ◽

2009 ◽

Vol 276 (7) ◽

pp. 2048-2059 ◽

Cited By ~ 26

Author(s):

Aurora Daniele ◽

Iris Scala ◽

Giuseppe Cardillo ◽

Cinzia Pennino ◽

Carla Ungaro ◽

...

Keyword(s):

Structural Characterization ◽

Southern Italy ◽

Phenylalanine Hydroxylase ◽

Phenotype Correlation ◽

Novel Mutations ◽

Frequency of three common card15/Nod 2 gene mutations and genotype/ phenotype correlation in a single center german IBD cohort

Gastroenterology ◽

10.1016/s0016-5085(03)81905-4 ◽

2003 ◽

Vol 124 (4) ◽

pp. A376

Author(s):

Fabian Schnitzler ◽

Peter Lohse ◽

Michael Sackmann ◽

Burkhard Goeke ◽

Thomas Ochsenkuhn

Keyword(s):

Gene Mutations ◽

Single Center ◽

Phenotype Correlation ◽

Functional Characterization of PHEX Gene Variants in Children With X ‐Linked Hypophosphatemic Rickets Shows No Evidence of Genotype–Phenotype Correlation

Journal of Bone and Mineral Research ◽

10.1002/jbmr.4035 ◽

2020 ◽

Vol 35 (9) ◽

pp. 1718-1725

Author(s):

Bixia Zheng ◽

Chunli Wang ◽

Qiuxia Chen ◽

Ruochen Che ◽

Yugen Sha ◽

...

Keyword(s):

Functional Characterization ◽

Hypophosphatemic Rickets ◽

Gene Variants ◽

Phenotype Correlation ◽

Phex Gene

Characterization of four arylsulfatase A missense mutations G86D, Y201C, D255H, and E312D causing metachromatic leukodystrophy

American Journal of Medical Genetics ◽

10.1002/(sici)1096-8628(20000306)91:1<68::aid-ajmg13>3.0.co;2-g ◽

2000 ◽

Vol 91 (1) ◽

pp. 68-73 ◽

Cited By ~ 13

Author(s):

Stefanie Hermann ◽

Frank Schestag ◽

Andreas Polten ◽

Sabine Kafert ◽

Johann Penzien ◽

...

Keyword(s):

Metachromatic Leukodystrophy ◽

Arylsulfatase A ◽

Missense Mutations

Genotype-phenotype correlation in 9 patients with tropical pancreatitis and identified gene mutations

Indian Journal of Gastroenterology ◽

10.1007/s12664-009-0022-3 ◽

2009 ◽

Vol 28 (2) ◽

pp. 68-71 ◽

Cited By ~ 3

Author(s):

G. Rajesh ◽

E. M. Elango ◽

V. Vidya ◽

V. Balakrishnan

Keyword(s):

Gene Mutations ◽

Phenotype Correlation ◽

Tropical Pancreatitis ◽

Clinical and molecular characterization of Brazilian families with von Hippel-Lindau disease: a need for delineating genotype-phenotype correlation

Familial Cancer ◽

10.1007/s10689-010-9357-2 ◽

2010 ◽

Vol 9 (4) ◽

pp. 635-642 ◽

Cited By ~ 10

Author(s):

Israel Gomy ◽

Greice Andreotti Molfetta ◽

Ester de Andrade Barreto ◽

Cristiane Ayres Ferreira ◽

Dalila Luciola Zanette ◽

...

Keyword(s):

Molecular Characterization ◽

Phenotype Correlation ◽

Von Hippel Lindau ◽

Von Hippel Lindau Disease