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Molecular characterization of the new clinical entity associated with congenital adrenal hyperplasia: the CAH-X syndrome in the Spanish population

Advances in laboratory medicine, 2023-09, Vol.4 (3), p.258-267

2023

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Molecular Diagnosis of Steroid 21-Hydroxylase Deficiency: A Practical Approach

Frontiers in endocrinology (Lausanne), 2022-03, Vol.13, p.834549-834549

2022

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A new synonymous variant involving an mRNA splicing site in CYP21A2 detected in 12 unrelated patients with deficiency of 21‐hydroxylase

Clinical genetics, 2021-11, Vol.100 (5), p.634-636

2021

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LEOPARD syndrome and multiple granular cell tumors: An underreported association?

Indian journal of dermatology, venereology, and leprology, 2016-01, Vol.82 (1), p.77-79

2016

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GENOTIPADO CYP21A2 y CYP11B1 EN UNA NEONATA VIRILIZADA CON HIPERPLASIA SUPRARRENAL CONGÉNITA

Medicina clínica, 2023-11, Vol.161 (10), p.448-449

2023

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Genotypic Findings in Noonan and Non-Noonan RASopathies and Patient Eligibility for Growth Hormone Treatment

Journal of clinical medicine, 2023-07, Vol.12 (15), p.5003

2023

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LEOPARD syndrome (PTPN11, T468M) in three boys fulfilling neurofibromatosis type 1 clinical criteria

European journal of pediatrics, 2011-08, Vol.170 (8), p.1069-1074

2011

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Cardiofaciocutaneous syndrome, a Noonan syndrome related disorder: clinical and molecular findings in 11 patients

Medicina clinica, 2015-01, Vol.144 (2), p.67

2015

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Disorder of sex development as a diagnostic clue in the first Spanish known newborn with P450 oxidoreductase deficiency

BMJ case reports, 2013-07, Vol.2013, p.bcr2013010251

2013

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An XX male with an intratubular undifferentiated germ cell neoplasia

Fertility and sterility, 2008-11, Vol.90 (5), p.2005.e3-2005.e5

2008

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Myeloproliferative disorder in Noonan syndrome

Journal of pediatric hematology/oncology, 2011-01, Vol.33 (1), p.e43-e45

2011

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LEOPARD Syndrome: A Variant of Noonan Syndrome Strongly Associated With Hypertrophic Cardiomyopathy

Revista española de cardiología (English ed.), 2013-05, Vol.66 (5), p.350-356

2013

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Identification of a Gypsy SHOX mutation (p.A170P) in Léri-Weill dyschondrosteosis and Langer mesomelic dysplasia

European journal of human genetics : EJHG, 2011-12, Vol.19 (12), p.1218-1225

2011

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Síndrome de Noonan: actualización genética, clínica y de opciones terapéuticas

Anales de pediatría (Barcelona, Spain : 2003), 2020-07, Vol.93 (1), p.61.e1-61.e14

2020

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Should 21-hydroxylase deficiency genotyping be considered in assisted reproductive technology programs?

Fertility and sterility, 2007-11, Vol.88 (5), p.1437.e5-1437.e11

2007

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Usefulness of molecular analysis in the differential diagnosis of congenital 21-hidroxylase deficiency detected in neonatal screening

Medicina clinica, 2011-03, Vol.136 (7), p.313

2011

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Caracterización molecular de la nueva entidad clínica relacionada con la hiperplasia suprarrenal congénita, síndrome CAH-X en población española

Advances in laboratory medicine, 2023-09, Vol.4 (3), p.268-278

2023

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Carrier detection and prenatal diagnosis of congenital adrenal hyperplasia must identify 'apparently mild' CYP21A2 alleles which associate neonatal salt-wasting disease

Prenatal diagnosis, 2010-08, Vol.30 (8), p.758-763

2010

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Neonatal screening for congenital adrenal hyperplasia: transitory elevation of 17-hydroxyprogesterone

Journal of Pediatric Endocrinology and Metabolism, 2011-04, Vol.24 (3-4), p.155-162

2011

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Congenital adrenal hyperplasia owing to 21-hydroxylase deficiency presenting with erythrocytosis

Medicina clínica, 2008-11, Vol.131 (16), p.638

2008

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Alterations in RAS-MAPK Genes in 200 Spanish Patients With Noonan and Other Neuro-Cardio-Facio-Cutaneous Syndromes. Genotype and Cardiopathy

Revista española de cardiología (English ed.), 2012-05, Vol.65 (5), p.447-455

2012

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Turner's syndrome with precocious puberty

Medicina clínica, 2008-09, Vol.131 (9), p.358

2008

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CYP21A2 and CYP11B1 gene analyses in a virilized newborn female with congenital adrenal hyperplasia

Medicina clinica, 2023-11, Vol.161 (10), p.448

2023

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Analysis of steroid 21-hydroxylase gene mutations in the Spanish population

Human genetics, 1995-08, Vol.96 (2), p.198-204

1995

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Recommendations for the preparation of diagnostic genetic reports in the clinical setting

Medicina clínica (English ed.), 2019-10, Vol.153 (7), p.293-297

2019

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Molecular characterization of the new clinical entity associated with congenital adrenal hyperplasia: the CAH-X syndrome in the Spanish population

Molecular Diagnosis of Steroid 21-Hydroxylase Deficiency: A Practical Approach

A new synonymous variant involving an mRNA splicing site in CYP21A2 detected in 12 unrelated patients with deficiency of 21‐hydroxylase

LEOPARD syndrome and multiple granular cell tumors: An underreported association?

GENOTIPADO CYP21A2 y CYP11B1 EN UNA NEONATA VIRILIZADA CON HIPERPLASIA SUPRARRENAL CONGÉNITA

Genotypic Findings in Noonan and Non-Noonan RASopathies and Patient Eligibility for Growth Hormone Treatment

LEOPARD syndrome (PTPN11, T468M) in three boys fulfilling neurofibromatosis type 1 clinical criteria

Cardiofaciocutaneous syndrome, a Noonan syndrome related disorder: clinical and molecular findings in 11 patients

Disorder of sex development as a diagnostic clue in the first Spanish known newborn with P450 oxidoreductase deficiency

An XX male with an intratubular undifferentiated germ cell neoplasia

Myeloproliferative disorder in Noonan syndrome

LEOPARD Syndrome: A Variant of Noonan Syndrome Strongly Associated With Hypertrophic Cardiomyopathy

Identification of a Gypsy SHOX mutation (p.A170P) in Léri-Weill dyschondrosteosis and Langer mesomelic dysplasia

Síndrome de Noonan: actualización genética, clínica y de opciones terapéuticas

Should 21-hydroxylase deficiency genotyping be considered in assisted reproductive technology programs?

Usefulness of molecular analysis in the differential diagnosis of congenital 21-hidroxylase deficiency detected in neonatal screening

Caracterización molecular de la nueva entidad clínica relacionada con la hiperplasia suprarrenal congénita, síndrome CAH-X en población española

Carrier detection and prenatal diagnosis of congenital adrenal hyperplasia must identify 'apparently mild' CYP21A2 alleles which associate neonatal salt-wasting disease

Neonatal screening for congenital adrenal hyperplasia: transitory elevation of 17-hydroxyprogesterone

Congenital adrenal hyperplasia owing to 21-hydroxylase deficiency presenting with erythrocytosis

Alterations in RAS-MAPK Genes in 200 Spanish Patients With Noonan and Other Neuro-Cardio-Facio-Cutaneous Syndromes. Genotype and Cardiopathy

Turner's syndrome with precocious puberty

CYP21A2 and CYP11B1 gene analyses in a virilized newborn female with congenital adrenal hyperplasia

Analysis of steroid 21-hydroxylase gene mutations in the Spanish population

Recommendations for the preparation of diagnostic genetic reports in the clinical setting

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