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Could the interaction between LMX1B and PAX2 influence the severity of renal symptoms?

European journal of human genetics : EJHG, 2018-11, Vol.26 (11), p.1708-1712

2018

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Expanding the mutation spectrum in 130 probands with ARPKD: identification of 62 novel PKHD1 mutations by sanger sequencing and MLPA analysis

Journal of human genetics, 2016-09, Vol.61 (9), p.811-821

2016

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Patient affected by neurofibromatosis type 1 and thyroid C-cell hyperplasia harboring pathogenic germ-line mutations in both NF1 and RET genes

Gene, 2014-02, Vol.536 (2), p.332-335

2014

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Connexin-26 mutations in sporadic and inherited sensorineural deafness

The Lancet (British edition), 1998-02, Vol.351 (9100), p.394-398

1998

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Compound Heterozygosity for OTOA Truncating Variant and Genomic Rearrangement Cause Autosomal Recessive Sensorineural Hearing Loss in an Italian Family

Audiology research (Pavia, Italy), 2021-09, Vol.11 (3), p.443-451

2021

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Mutations in GJB6 cause nonsyndromic autosomal dominant deafness at DFNA3 locus

Nature genetics, 1999-09, Vol.23 (1), p.16-18

1999

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High carrier frequency of the 35delG deafness mutation in European populations

European journal of human genetics : EJHG, 2000-01, Vol.8 (1), p.19-23

2000

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MYO6, the Human Homologue of the Gene Responsible for Deafness in Snell’s Waltzer Mice, Is Mutated in Autosomal Dominant Nonsyndromic Hearing Loss

American journal of human genetics, 2001-09, Vol.69 (3), p.635-640

2001

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Nonmuscle Myosin Heavy-Chain Gene MYH14 Is Expressed in Cochlea and Mutated in Patients Affected by Autosomal Dominant Hearing Impairment (DFNA4)

American journal of human genetics, 2004-04, Vol.74 (4), p.770-776

2004

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Pathogenetic role of the deafness-related M34T mutation of Cx26

Human molecular genetics, 2006-09, Vol.15 (17), p.2569-2587

2006

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Hearing loss: frequency and functional studies of the most common connexin26 alleles

Biochemical and biophysical research communications, 2002-08, Vol.296 (3), p.685-691

2002

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5542 THE ITALIAN REGISTRY OF POLYCYSTIC KIDNEY DISEASE (RIRP): DESIGN, PATIENT CHARACTERISTICS AND INITIAL RESULTS

Nephrology, dialysis, transplantation, 2023-06, Vol.38 (Supplement_1)

2023

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Putative TMPRSS3/GJB2 digenic inheritance of hearing loss detected by targeted resequencing

Molecular and cellular probes, 2017-06, Vol.33, p.24-27

2017

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EYA1 -related disorders: Two clinical cases and a literature review

International journal of pediatric otorhinolaryngology, 2014-08, Vol.78 (8), p.1201-1210

2014

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Connexin26 Mutations Associated with the Most Common Form of Non-Syndromic Neurosensory Autosomal Recessive Deafness (DFNB1) in Mediterraneans

Human molecular genetics, 1997-09, Vol.6 (9), p.1605-1609

1997

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Multiple Mutations ofMYO1A, a Cochlear-Expressed Gene, in Sensorineural Hearing Loss

American journal of human genetics, 2003-06, Vol.72 (6), p.1571-1577

2003

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Molecular basis of childhood deafness resulting from mutations in the GJB2 (connexin 26) gene

Human genetics, 2000-01, Vol.106 (1), p.40-44

2000

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Hearing loss features in GJB2 biallelic mutations and GJB2/GJB6 digenic inheritance in a large Italian cohort

International journal of audiology, 2009, Vol.48 (1), p.12-17

2009

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Mitochondrial DNA mutations in patients with postlingual, nonsyndromic hearing impairment

European journal of human genetics : EJHG, 2005-01, Vol.13 (1), p.26-33

2005

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Multiple Mutations of MYO1A, a Cochlear-Expressed Gene, in Sensorineural Hearing Loss

American journal of human genetics, 2003-06, Vol.72 (6), p.1571-1577

2003

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Are MYO1C and MYO1F associated with hearing loss?

Biochimica et biophysica acta, 2009-01, Vol.1792 (1), p.27-32

2009

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Functional characterization of a novel Cx26 (T55N) mutation associated to non-syndromic hearing loss

Biochemical and biophysical research communications, 2005-11, Vol.337 (3), p.799-805

2005

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Identification of a novel mutation in the SLC26A4 gene in an Italian with fluctuating sensorineural hearing loss

International journal of pediatric otorhinolaryngology, 2009-10, Vol.73 (10), p.1458-1463

2009

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A novel missense mutation in the Connexin 26 gene associated with autosomal recessive nonsyndromic sensorineural hearing loss in a consanguineous Tunisian family

International journal of pediatric otorhinolaryngology, 2009-01, Vol.73 (1), p.127-131

2009

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Localization, by linkage analysis, of the cystinuria type III gene to chromosome 19q13.1

American journal of human genetics, 1997-03, Vol.60 (3), p.611-616

1997

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Could the interaction between LMX1B and PAX2 influence the severity of renal symptoms?

Expanding the mutation spectrum in 130 probands with ARPKD: identification of 62 novel PKHD1 mutations by sanger sequencing and MLPA analysis

Patient affected by neurofibromatosis type 1 and thyroid C-cell hyperplasia harboring pathogenic germ-line mutations in both NF1 and RET genes

Connexin-26 mutations in sporadic and inherited sensorineural deafness

Compound Heterozygosity for OTOA Truncating Variant and Genomic Rearrangement Cause Autosomal Recessive Sensorineural Hearing Loss in an Italian Family

Mutations in GJB6 cause nonsyndromic autosomal dominant deafness at DFNA3 locus

High carrier frequency of the 35delG deafness mutation in European populations

MYO6, the Human Homologue of the Gene Responsible for Deafness in Snell’s Waltzer Mice, Is Mutated in Autosomal Dominant Nonsyndromic Hearing Loss

Nonmuscle Myosin Heavy-Chain Gene MYH14 Is Expressed in Cochlea and Mutated in Patients Affected by Autosomal Dominant Hearing Impairment (DFNA4)

Pathogenetic role of the deafness-related M34T mutation of Cx26

Hearing loss: frequency and functional studies of the most common connexin26 alleles

5542 THE ITALIAN REGISTRY OF POLYCYSTIC KIDNEY DISEASE (RIRP): DESIGN, PATIENT CHARACTERISTICS AND INITIAL RESULTS

Putative TMPRSS3/GJB2 digenic inheritance of hearing loss detected by targeted resequencing

EYA1 -related disorders: Two clinical cases and a literature review

Connexin26 Mutations Associated with the Most Common Form of Non-Syndromic Neurosensory Autosomal Recessive Deafness (DFNB1) in Mediterraneans

Multiple Mutations ofMYO1A, a Cochlear-Expressed Gene, in Sensorineural Hearing Loss

Molecular basis of childhood deafness resulting from mutations in the GJB2 (connexin 26) gene

Hearing loss features in GJB2 biallelic mutations and GJB2/GJB6 digenic inheritance in a large Italian cohort

Mitochondrial DNA mutations in patients with postlingual, nonsyndromic hearing impairment

Multiple Mutations of MYO1A, a Cochlear-Expressed Gene, in Sensorineural Hearing Loss

Are MYO1C and MYO1F associated with hearing loss?

Functional characterization of a novel Cx26 (T55N) mutation associated to non-syndromic hearing loss

Identification of a novel mutation in the SLC26A4 gene in an Italian with fluctuating sensorineural hearing loss

A novel missense mutation in the Connexin 26 gene associated with autosomal recessive nonsyndromic sensorineural hearing loss in a consanguineous Tunisian family

Localization, by linkage analysis, of the cystinuria type III gene to chromosome 19q13.1

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