List of works by Manuel C. Lemos

A Novel <i>FGFR1</i> Missense Mutation in a Portuguese Family with Congenital Hypogonadotropic Hypogonadism

scientific article published on 17 April 2022

A novel EXT1 splice site mutation in a kindred with hereditary multiple exostosis and osteoporosis

scientific article published on 28 June 2005

A novel MEN1 intronic mutation associated with multiple endocrine neoplasia type 1

scientific article published on 27 March 2007

A novel mutation of the HNF1B gene associated with hypoplastic glomerulocystic kidney disease and neonatal renal failure: a case report and mutation update

scientific article

Age, Sex Hormones, and Circadian Rhythm Regulate the Expression of Amyloid-Beta Scavengers at the Choroid Plexus

scientific article published on 17 September 2020

Association of FOXE1 polyalanine repeat region with thyroid cancer is dependent on tumour size.

scientific article published on 30 July 2016

Association of RET genetic polymorphisms and haplotypes with papillary thyroid carcinoma in the Portuguese population: a case-control study.

scientific article

Association of Vitamin D Pathway Genetic Variation and Thyroid Cancer

scientific article published on 28 July 2019

Bitter taste signaling mediated by Tas2r144 is down-regulated by 17β-estradiol and progesterone in the rat choroid plexus

scientific article published on 25 July 2019

Combined Pituitary Hormone Deficiency Caused by a Synonymous HESX1 Gene Mutation

scientific article published on 01 July 2019

Complete androgen insensitivity syndrome caused by a novel splice donor site mutation and activation of a cryptic splice donor site in the androgen receptor gene

scientific article

Deficiency of immunoregulatory indoleamine 2,3-dioxygenase 1in juvenile diabetes.

scientific article published on 22 March 2018

Developing and evaluating rare disease educational materials co-created by expert clinicians and patients: the paradigm of congenital hypogonadotropic hypogonadism

scientific article published on 20 March 2017

Expanding the genetic spectrum of ANOS1 mutations in patients with congenital hypogonadotropic hypogonadism.

scientific article

GNAS mutations in Pseudohypoparathyroidism type 1a and related disorders

scientific article

GNRHR biallelic and digenic mutations in patients with normosmic congenital hypogonadotropic hypogonadism

scientific article published on 13 June 2017

Genesis of two most prevalent PROP1 gene variants causing combined pituitary hormone deficiency in 21 populations

scientific article published on 10 June 2015

Genetic background influences embryonic lethality and the occurrence of neural tube defects in Men1 null mice: relevance to genetic modifiers

scientific article published on 08 July 2009

Genetic polymorphism of CYP2D6 influences susceptibility to papillary thyroid cancer

scientific article published on 04 June 2007

Genetic polymorphism of CYP2D6, GSTM1 and NAT2 and susceptibility to haematological neoplasias.

scientific article published in July 1999

High frequency of CHD7 mutations in congenital hypogonadotropic hypogonadism

scientific article published in Scientific Reports

Hypoparathyroidism, Deafness & Renal Dysplasia (HDR) Syndrome & GATA3.

scientific article published on 4 September 2017

Hypoparathyroidism, deafness and renal dysplasia (HDR) syndrome: 20 years after the identification of the first GATA3 mutations

scientific article published on 22 May 2020

Identification of 70 calcium-sensing receptor mutations in hyper- and hypo-calcaemic patients: evidence for clustering of extracellular domain mutations at calcium-binding sites.

scientific article published on 14 March 2012

Kidney transplantation and diabetes: posttransplantation malignancy

scientific article published in May 2003

Lack of association of vitamin D receptor gene polymorphisms with susceptibility to type 1 diabetes mellitus in the Portuguese population

scientific article

MEN1 gene replacement therapy reduces proliferation rates in a mouse model of pituitary adenomas

scientific article

Maturity-Onset Diabetes of the Young (MODY) in Portugal: Novel GCK, HNFA1 and HNFA4 Mutations

scientific article published on 20 January 2020

Multiple endocrine neoplasia type 1 (MEN1): analysis of 1336 mutations reported in the first decade following identification of the gene

scientific article

Multiple endocrine neoplasia type 1 knockout mice develop parathyroid, pancreatic, pituitary and adrenal tumours with hypercalcaemia, hypophosphataemia and hypercorticosteronaemia

scientific article published on 20 July 2009

Neonatal presentation of growth hormone deficiency in CHARGE syndrome: the benefit of early treatment on long-term growth

scientific article published on 06 April 2020

Novel FGFR1 mutations in Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism: evidence for the involvement of an alternatively spliced isoform

scientific article

PROP1 gene analysis in Portuguese patients with combined pituitary hormone deficiency

scientific article published in October 2006

Parathyroid identification by autofluorescence - preliminary report on five cases of surgery for primary hyperparathyroidism

scientific article published on 28 August 2019

Pseudohypoparathyroidism type 1a due to a novel mutation in the GNAS gene

scientific article published on 24 September 2015

The CTLA4 +49 A/G polymorphism is not associated with susceptibility to type 1 diabetes mellitus in the Portuguese population

article

UV-B Filter Octylmethoxycinnamate Induces Vasorelaxation by Ca Channel Inhibition and Guanylyl Cyclase Activation in Human Umbilical Arteries ⬇️

scientific article published on 19 March 2019

Vitamin D Pathway Genetic Variation and Type 1 Diabetes: A Case-Control Association Study

scientific article published on 05 August 2020

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