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

Begoña Ezquieta, Antonio Oliver, Ricardo Gracía, +1

Human Genetics

BiologySomatic VariantSpanish PopulationMendelian DisorderGenetic Disorder +8

Hyperinsulinism of Infancy: Novel ABCC8 and KCNJ11 Mutations and Evidence for Additional Locus Heterogeneity

Sharona Tornovsky, Ana Crane, Karen E. Cosgrove, +20

The Journal of Clinical Endocrinology & Metabolism

Primary Acid-Labile Subunit Deficiency due to Recessive<i>IGFALS</i>Mutations Results in Postnatal Growth Deficit Associated with Low Circulating Insulin Growth Factor (IGF)-I, IGF Binding Protein-3 Levels, and Hyperinsulinemia

Karen E. Heath, Jesús Argente, Vicente Barrios, +6

The Journal of Clinical Endocrinology & Metabolism

Identification of the first recurrent PAR1 deletion in Léri-Weill dyschondrosteosis and idiopathic short stature reveals the presence of a novel <i>SHOX</i> enhancer

Sara Benito‐Sanz, José Luís Royo, Eva Barroso, +8

Journal of Medical Genetics

Macrocephaly–capillary malformation: Analysis of 13 patients and review of the diagnostic criteria

Víctor Martínez‐Glez, Valeria Romanelli, María Ángeles Mori, +7

American Journal of Medical Genetics Part A

Identification of the first PAR1 deletion encompassing upstream SHOX enhancers in a family with idiopathic short stature

Sara Benito‐Sanz, Miriam Aza‐Carmona, Amaya Rodríguez-Estevez, +4

European Journal of Human Genetics

Developmental BiologyGenetic DisorderGeneticsPathologyMolecular Genetics +6

Improvement in Growth after Two Years of Growth Hormone Therapy in Very Young Children Born Small for Gestational Age and without Spontaneous Catch-Up Growth: Results of a Multicenter, Controlled, Randomized, Open Clinical Trial

Jesús Argente, Ricardo Gracía, Lourdes Ibáñez, +6

The Journal of Clinical Endocrinology & Metabolism

Compound Heterozygous Mutations in the <i>SRD5A2</i> Gene Exon 4 in a Male Pseudohermaphrodite Patient of Chinese Origin

Mónica Fernández‐Cancio, Manuel Nistal, Ricardo Gracía, +4

Journal of Andrology

Clinical and molecular studies on two further families with Simpson‐Golabi‐Behmel syndrome

Germán Rodríguez‐Criado, Luis F. Magano, Mabel Segovia, +7

American Journal of Medical Genetics Part A

Developmental AnomalyMendelian DisorderGenetic DisorderMolecular StudiesGenetics +13

Further delineation of neuropsychiatric findings in Tatton-Brown-Rahman syndrome due to disease-causing variants in DNMT3A: seven new patients

Jair Tenorio, Pablo Alarcón, Pedro Arias, +204

European Journal of Human Genetics

New PatientsMendelian DisorderGenetic DisorderMedicineFurther Delineation +7