J. Acierno

发表

The GPR54 gene as a regulator of puberty.

S. O’Rahilly, J. Gusella, W. Crowley, 2004, The New England journal of medicine.

The GPR54 Gene as a Regulator of Puberty

S. O’Rahilly, J. Gusella, W. Crowley, 2003 .

Pathogenic mosaic variants in congenital hypogonadotropic hypogonadism

R. Quinton, A. Messina, Jacques Young, 2020, Genetics in Medicine.

Defective AMH signaling disrupts GnRH neuron development and function and contributes to hypogonadotropic hypogonadism

R. Quinton, A. Messina, Jean‐Didier Maréchal, 2019, eLife.

Mapping of the mucolipidosis type IV gene to chromosome 19p and definition of founder haplotypes.

R. Schiffmann, J. Gusella, S. Slaugenhaupt, 1999, American journal of human genetics.

b-Klotho deficiency protects against obesity through a crosstalk between liver , microbiota , and brown adipose tissue

Stephen J. Bruce, M. Mohammadi, L. Fajas, 2018 .

β-Klotho deficiency protects against obesity through a crosstalk between liver, microbiota, and brown adipose tissue.

Stephen J. Bruce, M. Mohammadi, L. Fajas, 2017, JCI insight.

Vitamin D inhibition of prostate adenocarcinoma growth and metastasis in the Dunning rat prostate model system.

R. Day, R. Dhir, D. Trump, 1997, Urology.

Identification of nuclear matrix protein alterations associated with renal cell carcinoma.

M. Becich, R. Dhir, R. Hrebinko, 1998, The Journal of urology.

The Reduction of Visceral Adipose Tissue after Roux-en-Y Gastric Bypass Is more Pronounced in Patients with Impaired Glucose Metabolism

N. Demartines, D. Hans, M. Suter, 2018, Obesity Surgery.

Targeted genome screen of panic disorder and anxiety disorder proneness using homology to murine QTL regions.

J. Rosenbaum, J. Smoller, J. Biederman, 2001, American journal of medical genetics.

Hypogonadotropic hypogonadism and cerebellar ataxia: detailed phenotypic characterization of a large, extended kindred.

W. Crowley, D. Margolin, S. Seminara, 2002, The Journal of clinical endocrinology and metabolism.

Cloning and characterization of the mouse Mcoln1 gene reveals an alternatively spliced transcript not seen in humans

S. Slaugenhaupt, J. Acierno, J. Falardeau, 2002, BMC Genomics.

GNRHR mutations in a woman with idiopathic hypogonadotropic hypogonadism highlight the differential sensitivity of luteinizing hormone and follicle-stimulating hormone to gonadotropin-releasing hormone.

W. Crowley, P. Conn, G. Bédécarrats, 2004, The Journal of clinical endocrinology and metabolism.

Characterization of the human nasal embryonic LHRH factor gene, NELF, and a mutation screening among 65 patients with idiopathic hypogonadotropic hypogonadism (IHH)

S. Seminara, J. Acierno, K. Miura, 2004, Journal of Human Genetics.

Familial schwannomatosis

D. Louis, D. Louis, J. Acierno, 2003, Neurology.

Mucolipidosis type IV is caused by mutations in a gene encoding a novel transient receptor potential channel.

R. Schiffmann, J. Nagle, S. Slaugenhaupt, 2000, Human molecular genetics.

Biotin-responsive basal ganglia disease maps to 2q36.3 and is due to mutations in SLC19A3.

T. Gillis, M. MacDonald, J. Gusella, 2005, American journal of human genetics.

Congenital Hypogonadotropic Hypogonadism with Anosmia and Gorlin Features Caused by a PTCH1 Mutation Reveals a New Candidate Gene for Kallmann Syndrome

Jacques Young, R. Millar, J. Acierno, 2020, Neuroendocrinology.

Clinical Management of Congenital Hypogonadotropic Hypogonadism.

Jacques Young, T. Raivio, J. Acierno, 2019, Endocrine reviews.

Mutations in fibroblast growth factor receptor 1 cause Kallmann syndrome with a wide spectrum of reproductive phenotypes

E. Fliers, R. Quinton, P. Bouloux, 2006, Molecular and Cellular Endocrinology.

Mutations in fibroblast growth factor receptor 1 cause both Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism.

W. Crowley, M. Mohammadi, A. V. Eliseenkova, 2006, Proceedings of the National Academy of Sciences of the United States of America.

Autosomal recessive idiopathic hypogonadotropic hypogonadism: genetic analysis excludes mutations in the gonadotropin-releasing hormone (GnRH) and GnRH receptor genes.

W. Crowley, S. Seminara, J. Acierno, 2003, The Journal of clinical endocrinology and metabolism.

Evaluating CHARGE syndrome in congenital hypogonadotropic hypogonadism patients harboring CHD7 variants

M. Hauschild, P. Maeder, R. Quinton, 2018, Genetics in Medicine.

Neuron-Derived Neurotrophic Factor Is Mutated in Congenital Hypogonadotropic Hypogonadism.

D. Conte, G. Merlo, A. Messina, 2019, American journal of human genetics.

A locus for autosomal recessive idiopathic hypogonadotropic hypogonadism on chromosome 19p13.3.

W. Crowley, S. Seminara, J. Acierno, 2003, The Journal of clinical endocrinology and metabolism.

Reversible kallmann syndrome, delayed puberty, and isolated anosmia occurring in a single family with a mutation in the fibroblast growth factor receptor 1 gene.

W. Crowley, J. Acierno, N. Pitteloud, 2005, The Journal of clinical endocrinology and metabolism.

Congenital hypogonadotropic hypogonadism and constitutional delay of growth and puberty have distinct genetic architectures

Brian J. Stevenson, M. Hauschild, Huanming Yang, 2018, European journal of endocrinology.

KLB, encoding β‐Klotho, is mutated in patients with congenital hypogonadotropic hypogonadism

R. Quinton, A. Messina, W. Crowley, 2017, EMBO molecular medicine.

A locus for autosomal dominant mitral valve prolapse on chromosome 11p15.4.

J. Marshall, R. Levine, M. Leyne, 2003, American journal of human genetics.

A novel CHD7 mutation in an adolescent presenting with growth and pubertal delay

M. Hauschild, J. Acierno, N. Pitteloud, 2019, Annals of pediatric endocrinology & metabolism.

DCC/NTN1 complex mutations in patients with congenital hypogonadotropic hypogonadism impair GnRH neuron development

M. Hauschild, R. Quinton, A. Messina, 2018, Human molecular genetics.

Genetic testing facilitates prepubertal diagnosis of congenital hypogonadotropic hypogonadism

M. Mohammadi, J. Acierno, M. Lang-Muritano, 2017, Clinical genetics.

The role of vitamin D in normal prostate growth and differentiation.

M. Becich, B. Konety, J. Acierno, 1996, Cell growth & differentiation : the molecular biology journal of the American Association for Cancer Research.

Integrating clinical and genetic approaches in the diagnosis of 46,XY disorders of sex development

Andreas Massouras, Anna Skorczyk-Werner, M. Krawczyński, 2018, Endocrine connections.

Evaluating CHARGE syndrome in congenital hypogonadotropic hypogonadism patients harboring CHD7 variants

M. Hauschild, P. Maeder, R. Quinton, 2017, Genetics in Medicine.