A. P. Abreu

发表

Paternally Inherited DLK1 Deletion Associated With Familial Central Precocious Puberty

M. Weirauch, D. Haig, R. Carroll, 2017, The Journal of clinical endocrinology and metabolism.

Puberty 1 Pubertal development and regulation

U. Kaiser, A. P. Abreu, 2016 .

U. Kaiser, A. P. Abreu, 2016, The lancet. Diabetes & endocrinology.

Central precocious puberty that appears to be sporadic caused by paternally inherited mutations in the imprinted gene makorin ring finger 3.

J. Hirschhorn, Z. Gucev, R. Carroll, 2014, The Journal of clinical endocrinology and metabolism.

MKRN3 Mutations in Central Precocious Puberty: A Systematic Review and Meta-Analysis

R. Carroll, U. Kaiser, A. Latronico, 2019, Journal of the Endocrine Society.

The Peripubertal Decline in Makorin Ring Finger Protein 3 Expression is Independent of Leptin Action

R. Carroll, V. Navarro, U. Kaiser, 2020, Journal of the Endocrine Society.

MKRN3 inhibits the reproductive axis through actions in kisspeptin-expressing neurons.

C. A. Toro, S. Ojeda, O. Rønnekleiv, 2020, The Journal of clinical investigation.

Loss-of-function mutations in the genes encoding prokineticin-2 or prokineticin receptor-2 cause autosomal recessive Kallmann syndrome.

M. de Castro, A. Latronico, B. Mendonca, 2008, The Journal of clinical endocrinology and metabolism.

High Frequency of MKRN3 Mutations in Male Central Precocious Puberty Previously Classified as Idiopathic

A. Dauber, I. Bergadá, U. Kaiser, 2016, Neuroendocrinology.

TAC3/TACR3 mutations reveal preferential activation of gonadotropin-releasing hormone release by neurokinin B in neonatal life followed by reversal in adulthood.

R. Quinton, W. Crowley, M. de Castro, 2010, The Journal of clinical endocrinology and metabolism.

The Role of Prokineticins in the Pathogenesis of Hypogonadotropic Hypogonadism

U. Kaiser, A. Latronico, A. P. Abreu, 2010, Neuroendocrinology.

FGFR1 and PROKR2 rare variants found in patients with combined pituitary hormone deficiencies

A. Latronico, L. Montenegro, B. Mendonca, 2015, Endocrine connections.

Candidate gene analysis in a case of congenital absence of the endometrium

Mary R. Kwaan, C. Feltmate, R. Carroll, 2016, Fertility Research and Practice.

Central precocious puberty caused by mutations in the imprinted gene MKRN3.

J. Hirschhorn, F. de Zegher, R. Carroll, 2013, The New England journal of medicine.

Mutations of the KISS1 gene in disorders of puberty.

W. Kuohung, U. Kaiser, Suzy D C Bianco, 2010, The Journal of clinical endocrinology and metabolism.

Nonsense mutations in FGF8 gene causing different degrees of human gonadotropin-releasing deficiency.

M. Mohammadi, M. Teles, A. Latronico, 2010, The Journal of clinical endocrinology and metabolism.

Screening of autosomal gene deletions in patients with hypogonadotropic hypogonadism using multiplex ligation‐dependent probe amplification: detection of a hemizygosis for the fibroblast growth factor receptor 1

M. de Castro, M. Teles, A. Latronico, 2010, Clinical endocrinology.

TACR3 mutations disrupt NK3R function through distinct mechanisms in GnRH‐deficient patients

R. Carroll, S. Seminara, U. Kaiser, 2014, FASEB journal : official publication of the Federation of American Societies for Experimental Biology.

Time Course of Central Precocious Puberty Development Caused by an MKRN3 Gene Mutation: A Prismatic Case

A. Moreira, M. Castro, U. Kaiser, 2016, Hormone Research in Paediatrics.

A new pathway in the control of the initiation of puberty: the MKRN3 gene.

U. Kaiser, A. Latronico, D. Macedo, 2015, Journal of molecular endocrinology.

Hypothalamic miR-30 regulates puberty onset via repression of the puberty-suppressing factor, Mkrn3

D. Belsham, S. Sangiao-Alvarellos, M. J. Vazquez, 2019, PLoS biology.

The Congenital and Acquired Mechanisms Implicated in the Etiology of Central Precocious Puberty.

J. Argente, U. Kaiser, A. Latronico, 2022, Endocrine reviews.

Central Precocious Puberty Caused by a Heterozygous Deletion in the MKRN3 Promoter Region

U. Kaiser, A. Latronico, L. Montenegro, 2018, Neuroendocrinology.

Genetics of pubertal timing.

A. P. Abreu, A. Mancini, John C Magnotto, 2022, Best practice & research. Clinical endocrinology & metabolism.

Panhypopituitarism

A. P. Abreu, UrsulaB Kaiser, 2020, Handbook of Inpatient Endocrinology.

Infants of Women with Polycystic Ovary Syndrome have Lower Cord Blood Androstenedione and Estradiol Levels

W. Kuohung, U. Kaiser, A. Latronico, 2010 .

Evidence of the importance of the first intracellular loop of prokineticin receptor 2 in receptor function.

R. Carroll, U. Kaiser, A. Latronico, 2012, Molecular endocrinology.

An ancient founder mutation in PROKR2 impairs human reproduction.

J. Florez, J. Gusella, R. Quinton, 2012, Human molecular genetics.

Corrigendum to: "Genotype-Phenotype Correlations in Central Precocious Puberty Caused by MKRN3 Mutations".

J. Argente, U. Kaiser, A. Latronico, 2021, The Journal of clinical endocrinology and metabolism.

MKRN3 inhibits puberty onset via interaction with IGF2BP1 and regulation of hypothalamic plasticity

S. Gygi, R. Carroll, F. Merkle, 2023, JCI insight.

Genotype-phenotype correlations in central precocious puberty caused by MKRN3 mutations.

J. Argente, U. Kaiser, A. Latronico, 2020, The Journal of clinical endocrinology and metabolism.