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Gene duplications in 21-hydroxylase deficiency: the importance of accurate molecular diagnosis in carrier detection and prenatal diagnosis

Prenatal diagnosis, 2006-12, Vol.26 (12), p.1172-1178

2006

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Monogenic and polygenic models detected in steroid 21-hydroxylase deficiency-related paediatric hyperandrogenism

Hormone research, 2009-01, Vol.71 (1), p.28-37

2009

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Recomendaciones para la elaboración de informes genéticos de diagnóstico en el ámbito asistencial

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

2019

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W142 Gene chimeras involving CYP21A2 and TNXB genes in Spanish patients with congenital adrenal hyperplasia (CAH)

Clinica chimica acta, 2022-05, Vol.530, p.S346-S347

2022

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LEOPARD syndrome without hearing loss or pulmonary stenosis: a report of 2 cases

Actas dermo-sifiliográficas (English ed.), 2015-05, Vol.106 (4), p.e19-e22

2015

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LEOPARD Syndrome Without Hearing Loss or Pulmonary Stenosis: A Report of 2 Cases

Actas dermo-sifiliográficas (English ed.), 2015-05, Vol.106 (4), p.e19-e22

2015

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Síndrome LEOPARD sin sordera ni estenosis pulmonar: a propósito de 2 casos

Actas dermo-sifiliográficas, 2015-05, Vol.106 (4), p.e19-e22

2015

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Clinical manifestations and hormonal profile of two women with Cushing's disease and mild deficiency of 21-hydroxylase

Journal of endocrinological investigation, 2004-06, Vol.27 (6), p.583-590

2004

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SHOX intragenic microsatellite analysis in patients with short stature

Journal of Pediatric Endocrinology and Metabolism, 2002-02, Vol.15 (2), p.139

2002

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Prenatal counselling of 21-hydroxylase deficiency

Anales de pediatría (Barcelona, Spain : 2003), 2012-01, Vol.76 (1), p.51

2012

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De novo I172N mutation in a patient with 21-hydroxilase deficiency

Medicina clínica, 2010-07, Vol.135 (4), p.189

2010

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Mutación de novo I172N en paciente con déficit clásico de 21-hidroxilasa

Medicina clínica, 2010-07, Vol.135 (4), p.189-191

2010

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Consejo genético en la hiperplasia suprarrenal congénita por déficit de 21-hidroxilasa

Anales de pediatría (Barcelona, Spain : 2003), 2012-01, Vol.76 (1), p.51-52

2012

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A novel frameshift mutation in the first exon of the 21-OH gene found in homozygosity in an apparently nonconsanguineous family

Hormone research, 1999, Vol.51 (3), p.135-141

1999

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Neonatal salt-wasting and 11 β-hydroxylase deficiency in a child carrying a homozygous deletion hybrid CYP11B2 (aldosterone synthase)-CYP11B1 (11 β-hydroxylase)

Clinical genetics, 2004-09, Vol.66 (3), p.229-235

2004

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Virilizing congenital adrenogenital syndrome with a de novo I172N mutation: study of a new case

Anales de pediatría (Barcelona, Spain : 2003), 2010-01, Vol.72 (1), p.72-78

2010

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Síndrome suprarrenogenital congénito virilizante con mutación de novo I172N: estudio de un nuevo caso

Anales de pediatría (Barcelona, Spain : 2003), 2010, Vol.72 (1), p.72-78

2010

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Cribado neonatal de hiperplasia suprarrenal congénita

Endocrinología, diabetes y nutrición, 2018-01, Vol.65 (1), p.1-4

2018

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Síndrome LEOPARD: una variante del síndrome de Noonan con fuerte asociación a miocardiopatía hipertrófica

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

2013

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Alteraciones de los genes de la vía RAS-MAPK en 200 pacientes españoles con síndrome de Noonan y otros síndromes neurocardiofaciocutáneos. Genotipo y cardiopatía

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

2012

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Deletion of the long arm of the Y chromosome in an adolescent with short stature and hypogonadism

Journal of Pediatric Endocrinology and Metabolism, 2001-01, Vol.14 (1), p.103

2001

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Prevalence of frequent recessive diseases in the Spanish population through DNA analyses on samples from the neonatal screening

Medicina clínica, 2005-10, Vol.125 (13), p.493-495

2005

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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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Non-classical 21-hydroxylase deficiency in children: association of adrenocorticotropic hormone-stimulated 17-hydroxyprogesterone with the risk of compound heterozygosity with severe mutations

Acta Paediatrica, 2002-08, Vol.91 (8), p.892-898

2002

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Gene conversion (655G splicing mutation) and the founder effect (Gln318Stop) contribute to the most frequent severe point mutations in congenital adrenal hyperplasia (21‐hydroxylase deficiency) in the Spanish population

Clinical genetics, 2002-08, Vol.62 (2), p.181-188

2002

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Gene duplications in 21-hydroxylase deficiency: the importance of accurate molecular diagnosis in carrier detection and prenatal diagnosis

Monogenic and polygenic models detected in steroid 21-hydroxylase deficiency-related paediatric hyperandrogenism

Recomendaciones para la elaboración de informes genéticos de diagnóstico en el ámbito asistencial

W142 Gene chimeras involving CYP21A2 and TNXB genes in Spanish patients with congenital adrenal hyperplasia (CAH)

LEOPARD syndrome without hearing loss or pulmonary stenosis: a report of 2 cases

LEOPARD Syndrome Without Hearing Loss or Pulmonary Stenosis: A Report of 2 Cases

Síndrome LEOPARD sin sordera ni estenosis pulmonar: a propósito de 2 casos

Clinical manifestations and hormonal profile of two women with Cushing's disease and mild deficiency of 21-hydroxylase

SHOX intragenic microsatellite analysis in patients with short stature

Prenatal counselling of 21-hydroxylase deficiency

De novo I172N mutation in a patient with 21-hydroxilase deficiency

Mutación de novo I172N en paciente con déficit clásico de 21-hidroxilasa

Consejo genético en la hiperplasia suprarrenal congénita por déficit de 21-hidroxilasa

A novel frameshift mutation in the first exon of the 21-OH gene found in homozygosity in an apparently nonconsanguineous family

Neonatal salt-wasting and 11 β-hydroxylase deficiency in a child carrying a homozygous deletion hybrid CYP11B2 (aldosterone synthase)-CYP11B1 (11 β-hydroxylase)

Virilizing congenital adrenogenital syndrome with a de novo I172N mutation: study of a new case

Síndrome suprarrenogenital congénito virilizante con mutación de novo I172N: estudio de un nuevo caso

Cribado neonatal de hiperplasia suprarrenal congénita

Síndrome LEOPARD: una variante del síndrome de Noonan con fuerte asociación a miocardiopatía hipertrófica

Alteraciones de los genes de la vía RAS-MAPK en 200 pacientes españoles con síndrome de Noonan y otros síndromes neurocardiofaciocutáneos. Genotipo y cardiopatía

Deletion of the long arm of the Y chromosome in an adolescent with short stature and hypogonadism

Prevalence of frequent recessive diseases in the Spanish population through DNA analyses on samples from the neonatal screening

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

Non-classical 21-hydroxylase deficiency in children: association of adrenocorticotropic hormone-stimulated 17-hydroxyprogesterone with the risk of compound heterozygosity with severe mutations

Gene conversion (655G splicing mutation) and the founder effect (Gln318Stop) contribute to the most frequent severe point mutations in congenital adrenal hyperplasia (21‐hydroxylase deficiency) in the Spanish population

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