N. Camats

发表

Characterization of Novel StAR (Steroidogenic Acute Regulatory Protein) Mutations Causing Non-Classic Lipoid Adrenal Hyperplasia

B. Dick, C. Flück, A. Pandey, 2011, PloS one.

Oligogenic Origin of Differences of Sex Development in Humans

C. Flück, N. Camats, L. Audí, 2020, International journal of molecular sciences.

Isolated pulmonary interstitial glycogenosis associated with alveolar growth abnormalities: A long‐term follow‐up study

A. Villares, M. Dishop, N. Camats, 2019, Pediatric pulmonology.

Contribution of Rare Copy Number Variants to Isolated Human Malformations

B. Rodríguez-Santiago, L. Pérez-Jurado, N. Camats, 2012, PloS one.

Molecular basis of CYP19A1 deficiency in a 46, XX patient with R550W mutation in POR: Expanding the PORD phenotype.

N. Kagawa, C. Flück, A. Pandey, 2020, The Journal of clinical endocrinology and metabolism.

Trans-generational radiation-induced chromosomal instability in the female enhances the action of chemical mutagens.

Miguel Martin, N. Camats, Francisca García, 2008, Mutation research.

Ten novel mutations in the NR5A1 gene cause disordered sex development in 46,XY and ovarian insufficiency in 46,XX individuals.

M. Nistal, C. Flück, A. Pandey, 2012, The Journal of clinical endocrinology and metabolism.

Pairing and recombination features during meiosis in Cebus paraguayanus (Primates: Platyrrhini)

P. Robles, N. Camats, E. R. Steinberg, 2009, BMC Genetics.

STAR splicing mutations cause the severe phenotype of lipoid congenital adrenal hyperplasia: insights from a novel splice mutation and review of reported cases

C. Flück, A. Pandey, N. Camats, 2014, Clinical endocrinology.

Characterization of Two Novel Variants of the Steroidogenic Acute Regulatory Protein Identified in a Girl with Classic Lipoid Congenital Adrenal Hyperplasia

M. Maghnie, M. Groessl, C. Flück, 2020, International journal of molecular sciences.

Development of Laboratory Investigations in Disorders of Sex Development

N. Camats, M. Fernández-Cancio, L. Audí, 2017, Sexual Development.

Broad Phenotypes of Disorders/Differences of Sex Development in MAMLD1 Patients Through Oligogenic Disease

C. Flück, N. Camats, M. Fernández-Cancio, 2019, Front. Genet..

Human MAMLD1 Gene Variations Seem Not Sufficient to Explain a 46,XY DSD Phenotype

J. A. Blanco, C. Flück, N. Camats, 2015, PloS one.

Sphingosine-1-phosphate lyase mutations cause primary adrenal insufficiency and steroid-resistant nephrotic syndrome

L. Metherell, L. Guasti, H. Storr, 2017, The Journal of clinical investigation.

Testicular differentiation factor SF-1 is required for human spleen development.

C. Flück, N. Camats, E. Levy-Lahad, 2014, The Journal of clinical investigation.

The GnRH analogue triptorelin confers ovarian radio-protection to adult female rats.

N. Camats, M. G. Caldes, J. J. Parrilla, 2009, Mutation research.

Phenotypic variability of patients with PAX8 variants presenting congenital hypothyroidism and eutopic thyroid.

M. Antolín, E. García-Arumí, N. Camats, 2020, The Journal of clinical endocrinology and metabolism.

Mechanism of the Dual Activities of Human CYP17A1 and Binding to Anti-Prostate Cancer Drug Abiraterone Revealed by a Novel V366M Mutation Causing 17,20 Lyase Deficiency

B. Frey, B. Dick, C. Flück, 2018, Pharmaceuticals.

Molecular Basis of Aromatase Deficiency in a 46, XX Patient with Mutation of Arginine 550 to Tryptophan in POR: Expanding the Endocrine Phenotype in PORD

N. Kagawa, C. Flück, A. Pandey, 2019 .

Human NR5A1/SF-1 Mutations Show Decreased Activity on BDNF (Brain-Derived Neurotrophic Factor), an Important Regulator of Energy Balance: Testing Impact of Novel SF-1 Mutations Beyond Steroidogenesis

C. Flück, N. Camats, M. Fernández-Cancio, 2014, PloS one.

Ala cannot explain the phenotype of individuals with a 1 difference of sex development . 2 3

C. Flück, N. Camats, I. Esteva, 2023 .

Broad phenotypes in heterozygous NR5A1 46,XY patients with a disorder of sex development: an oligogenic origin?

A. Schaller, C. Flück, N. Camats, 2018, European Journal of Human Genetics.

GATA4 Variants in Individuals With a 46,XY Disorder of Sex Development (DSD) May or May Not Be Associated With Cardiac Defects Depending on Second Hits in Other DSD Genes

A. Sinclair, Amaia Rodríguez, C. Flück, 2018, Front. Endocrinol..

A novel CYP17A1 deletion causes a functional knockout of the steroid enzyme 17-hydroxylase and 17,20-lyase in a Turkish family and illustrates the precise role of the CYP17A1 gene

B. Dick, C. Flück, N. Camats, 2015, Clinical case reports.

Sphingosine-1-phosphate lyase mutations cause primary adrenal insufficiency and steroid-resistant nephrotic syndrome. (3),

L. Metherell, L. Guasti, H. Storr, 2017 .

SGPL 1 mutations cause primary adrenal insufficiency and steroid resistant nephrotic syndrome 1

L. Metherell, L. Guasti, H. Storr, 2016 .

LRH-1 May Rescue SF-1 Deficiency for Steroidogenesis: An in vitro and in vivo Study

C. Flück, N. Camats, M. Fernández-Cancio, 2015, Sexual Development.

Growth hormone deficiency: an update.

N. Camats, M. Fernández-Cancio, A. Carrascosa, 2013, Minerva endocrinologica.

Contribution of human growth hormone‐releasing hormone receptor (GHRHR) gene sequence variation to isolated severe growth hormone deficiency (ISGHD) and normal adult height

N. Camats, M. Fernández-Cancio, M. Clemente, 2012, Clinical endocrinology.

Genetic reanalysis of patients with a difference of sex development carrying the NR5A1/SF-1 variant p.Gly146Ala has discovered other likely disease-causing variations

C. Flück, N. Camats, I. Esteva, 2023, PloS one.

A Novel Homozygous AMRH2 Gene Mutation in a Patient with Persistent Müllerian Duct Syndrome

N. Camats, M. Fernández-Cancio, L. Audí, 2019, Sexual Development.

Development of Laboratory Investigations in Disorders of Sex Development

N. Camats, M. Fernández-Cancio, L. Audí, 2017, Sexual Development.

LRH-1 May Rescue SF-1 Deficiency for Steroidogenesis: An in vitro and in vivo Study

C. Flück, N. Camats, M. Fernández-Cancio, 2015, Sexual Development.