Clinical and molecular characterization of individuals with 18p deletion: A genotype–phenotype correlation

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):

Phenotype Correlation ◽

Southern France ◽

Mcardle Disease ◽

New Mutations

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):

Phenotype Correlation ◽

Von Hippel Lindau ◽

Von Hippel Lindau Disease

Molecular Characterization of Glucose-6-phosphate Dehydrogenase Deficiency in Families from the Republic of Macedonia and Genotype-phenotype Correlation

Medical Archives ◽

10.5455/medarh.2015.69.284-288 ◽

2015 ◽

Vol 69 (5) ◽

pp. 284

Author(s):

Anet Cherepnalkovski ◽

Tatijana Zemunik ◽

Sofijanka Glamocanin ◽

Katica Piperkova ◽

Ivana Gunjaca ◽

...

Keyword(s):

Phenotype Correlation ◽

Republic Of Macedonia ◽

The Republic ◽

Glucose 6 Phosphate Dehydrogenase

The clinical, cytogenetics and molecular characterization of inverted duplication/deletion of chromosome 8p in a boy with mental and motor retardation: Genotype-phenotype correlation in a case report

Egyptian Journal of Medical Human Genetics ◽

10.1016/j.ejmhg.2018.04.001 ◽

2018 ◽

Vol 19 (4) ◽

pp. 437-441

Author(s):

Fatma Silan ◽

Romyla Bourouba ◽

Taner Karakaya ◽

Onur Yildiz ◽

Baris Paksoy ◽

...

Keyword(s):

Case Report ◽

Phenotype Correlation ◽

Inverted Duplication ◽

Clinical Cytogenetics ◽

Motor Retardation ◽

Chromosome 8P

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 ◽

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

Human Mutation ◽

10.1002/humu.21093 ◽

2009 ◽

Vol 30 (10) ◽

pp. E936-E945 ◽

Cited By ~ 17

Author(s):

Martina Cesani ◽

Alessia Capotondo ◽

Tiziana Plati ◽

Lucia Sergi Sergi ◽

Francesca Fumagalli ◽

...

Keyword(s):

Metachromatic Leukodystrophy ◽

Gene Mutations ◽

Arylsulfatase A ◽

Phenotype Correlation ◽

Genotype-Phenotype Correlation for DFNA22: Characterization of Non-Syndromic, Autosomal Dominant, Progressive Sensorineural Hearing Loss due to MYO6 Mutations

Audiology and Neurotology ◽

10.1159/000255339 ◽

2010 ◽

Vol 15 (4) ◽

pp. 211-220 ◽

Cited By ~ 10

Author(s):

Vedat Topsakal ◽

Nele Hilgert ◽

Joost van Dinther ◽

Lisbeth Tranebjærg ◽

Nanna D. Rendtorff ◽

...

Keyword(s):

Hearing Loss ◽

Sensorineural Hearing Loss ◽

Autosomal Dominant ◽

Sensorineural Hearing ◽

Phenotype Correlation ◽

Mutational characterization of HBV reverse transcriptase gene and the genotype-phenotype correlation of antiviral resistance among Chinese chronic hepatitis B patients

Emerging Microbes & Infections ◽

10.1080/22221751.2020.1835446 ◽

2020 ◽

Vol 9 (1) ◽

pp. 2381-2393

Author(s):

Ya Fu ◽

Songhang Wu ◽

Yuhai Hu ◽

Tianbin Chen ◽

Yongbin Zeng ◽

...

Keyword(s):

Chronic Hepatitis ◽

Hepatitis B ◽

Reverse Transcriptase ◽

Chronic Hepatitis B ◽

Antiviral Resistance ◽

Reverse Transcriptase Gene ◽

Phenotype Correlation ◽

Characterization of Spectrum, de novo Rate and Genotype-Phenotype Correlation of Dominant GJB2 Mutations in Chinese Hans

PLoS ONE ◽

10.1371/journal.pone.0100483 ◽

2014 ◽

Vol 9 (6) ◽

pp. e100483 ◽

Cited By ~ 6

Author(s):

Xiuhong Pang ◽

Yongchuan Chai ◽

Lianhua Sun ◽

Dongye Chen ◽

Ying Chen ◽

...

Keyword(s):

De Novo ◽

Phenotype Correlation ◽

Gjb2 Mutations