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Clinical utility of genetic testing in early-onset kidney disease: seven genes are the main players

Nephrology, dialysis, transplantation, 2022-03, Vol.37 (4), p.687-696

2022

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Prenatal and foetal autopsy findings in glutaric aciduria type II

Birth defects research, 2020-11, Vol.112 (19), p.1738-1749

2020

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High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype-Phenotype Correlation

Human mutation, 2015-11, Vol.36 (11), p.1052-1063

2015

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Incidental finding at methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA): how to proceed?

Frontiers in genetics, 2023-10, Vol.14, p.1274056-1274056

2023

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Interaction between a Domain of the Negative Regulator of the Ras-ERK Pathway, SPRED1 Protein, and the GTPase-activating Protein-related Domain of Neurofibromin Is Implicated in Legius Syndrome and Neurofibromatosis Type 1

The Journal of biological chemistry, 2016-02, Vol.291 (7), p.3124-3134

2016

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In‐frame deletion in FLNA causing familial periventricular heterotopia with skeletal dysplasia in males

American journal of medical genetics. Part A, 2011-05, Vol.155 (5), p.1140-1146

2011

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Novel Variant in PLAG1 in a Familial Case with Silver-Russell Syndrome Suspicion

Genes, 2020-12, Vol.11 (12), p.1461

2020

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RNA Analysis and Clinical Characterization of a Novel Splice Variant in the NSD1 Gene Causing Familial Sotos Syndrome

Frontiers in pediatrics, 2022-02, Vol.10, p.827802-827802

2022

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Exome sequencing identifies CTSK mutations in patients originally diagnosed as intermediate osteopetrosis

Bone (New York, N.Y.), 2014-02, Vol.59, p.122-126

2014

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Uncommon nucleotide excision repair phenotypes revealed by targeted high-throughput sequencing

Orphanet journal of rare diseases, 2016-03, Vol.11 (1), p.26-26, Article 26

2016

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Cri-du-chat syndrome mimics Silver-Russell syndrome depending on the size of the deletion: a case report

BMC medical genomics, 2018-12, Vol.11 (1), p.124-7, Article 124

2018

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Delineation of the clinically recognizable 17q22 contiguous gene deletion syndrome in a patient carrying the smallest microdeletion known to date

American journal of medical genetics. Part A, 2015-09, Vol.167A (9), p.2034-2041

2015

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A novel mutation in the IRF6 gene associated with facial asymmetry in a family affected with Van der Woude Syndrome

Pediatric dermatology, 2012-11, Vol.29 (6), p.768-770

2012

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A kidney-disease gene panel allows a comprehensive genetic diagnosis of cystic and glomerular inherited kidney diseases

Kidney international, 2018-08, Vol.94 (2), p.363-371

2018

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El síndrome CHARGE

Archivos argentinos de pediatría, 2010-02, Vol.108 (1), p.e9-e12

2010

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Novel APOB mutation in familial hypobetalipoproteinemia

Journal of clinical lipidology, 2022-01, Vol.16 (1), p.28-32

2022

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Ampliando el diagnóstico de las manchas café con leche

Piel, 2022-01, Vol.37 (1), p.59-60

2022

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P87-F Severe congenital myopathy related to a novel mutation in the titin gene. A case report

Clinical neurophysiology, 2019-07, Vol.130 (7), p.e92-e93

2019

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Clinical and Molecular Description of 16 Families With Heterozygous IHH Variants

The journal of clinical endocrinology and metabolism, 2020-08, Vol.105 (8), p.1-2666

2020

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Analysis of germline variants in pediatric patients diagnosed with desmoid tumors and nuchal-type fibromas

Translational pediatrics, 2023-09, Vol.12 (9), p.1715-1724

2023

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Microtia: A Clinical and Genetic Study at the National Institute of Pediatrics in Mexico City

Archives of medical research, 1999-03, Vol.30 (2), p.120-124

1999

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EDA, EDAR, EDARADD and WNT10A allelic variants in patients with ectodermal derivative impairment in the Spanish population

Orphanet journal of rare diseases, 2019-12, Vol.14 (1), p.281-281, Article 281

2019

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CHARGE syndrome

Archivos argentinos de pediatría, 2010-02, Vol.108 (1), p.e9-e12

2010

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Novel Variant in PLAG1 in a Familial Case with Silver-Russell Syndrome Suspicion

Genes, 2020, Vol.11 (12)

2020

Volltextzugriff (PDF)

Microtia

Archives of medical research, 1999-03, Vol.30 (2), p.120-124

1999

Volltextzugriff (PDF)

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Clinical utility of genetic testing in early-onset kidney disease: seven genes are the main players

Prenatal and foetal autopsy findings in glutaric aciduria type II

High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype-Phenotype Correlation

Incidental finding at methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA): how to proceed?

Interaction between a Domain of the Negative Regulator of the Ras-ERK Pathway, SPRED1 Protein, and the GTPase-activating Protein-related Domain of Neurofibromin Is Implicated in Legius Syndrome and Neurofibromatosis Type 1

In‐frame deletion in FLNA causing familial periventricular heterotopia with skeletal dysplasia in males

Novel Variant in PLAG1 in a Familial Case with Silver-Russell Syndrome Suspicion

RNA Analysis and Clinical Characterization of a Novel Splice Variant in the NSD1 Gene Causing Familial Sotos Syndrome

Exome sequencing identifies CTSK mutations in patients originally diagnosed as intermediate osteopetrosis

Uncommon nucleotide excision repair phenotypes revealed by targeted high-throughput sequencing

Cri-du-chat syndrome mimics Silver-Russell syndrome depending on the size of the deletion: a case report

Delineation of the clinically recognizable 17q22 contiguous gene deletion syndrome in a patient carrying the smallest microdeletion known to date

A novel mutation in the IRF6 gene associated with facial asymmetry in a family affected with Van der Woude Syndrome

A kidney-disease gene panel allows a comprehensive genetic diagnosis of cystic and glomerular inherited kidney diseases

El síndrome CHARGE

Novel APOB mutation in familial hypobetalipoproteinemia

Ampliando el diagnóstico de las manchas café con leche

P87-F Severe congenital myopathy related to a novel mutation in the titin gene. A case report

Clinical and Molecular Description of 16 Families With Heterozygous IHH Variants

Analysis of germline variants in pediatric patients diagnosed with desmoid tumors and nuchal-type fibromas

Microtia: A Clinical and Genetic Study at the National Institute of Pediatrics in Mexico City

EDA, EDAR, EDARADD and WNT10A allelic variants in patients with ectodermal derivative impairment in the Spanish population

CHARGE syndrome

Novel Variant in PLAG1 in a Familial Case with Silver-Russell Syndrome Suspicion

Microtia

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