Insights from exome sequencing for endocrine disorders (Q28088772)

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4806650

ARMC5 mutations in macronodular adrenal hyperplasia with Cushing's syndrome

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4806650

PLS3 mutations in X-linked osteoporosis with fractures

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4806650

ARNT2 mutation causes hypopituitarism, post-natal microcephaly, visual and renal anomalies

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4806650

Mutations in NNT encoding nicotinamide nucleotide transhydrogenase cause familial glucocorticoid deficiency

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4806650

Genetic defect in CYP24A1, the vitamin D 24-hydroxylase gene, in a patient with severe infantile hypercalcemia

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4806650

XX ovarian dysgenesis is caused by a PSMC3IP/HOP2 mutation that abolishes coactivation of estrogen-driven transcription

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4806650

Exome sequencing identifies CCDC8 mutations in 3-M syndrome, suggesting that CCDC8 contributes in a pathway with CUL7 and OBSL1 to control human growth

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4806650

RET germline mutations identified by exome sequencing in a Chinese multiple endocrine neoplasia type 2A/familial medullary thyroid carcinoma family

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4806650

Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4806650

Loss-of-function mutations in IGSF1 cause an X-linked syndrome of central hypothyroidism and testicular enlargement

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4806650

Exome sequencing, ANGPTL3 mutations, and familial combined hypolipidemia

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4806650

Ataxia, dementia, and hypogonadotropism caused by disordered ubiquitination

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4806650

Mutant Cohesin in Premature Ovarian Failure

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4806650

Initial sequencing and analysis of the human genome

7 April 2017

1 reference

https://api.crossref.org/works/10.1038/NRENDO.2015.72

Control of DNA replication: regulation and activation of eukaryotic replicative helicase, MCM

22 April 2017

1 reference

https://api.crossref.org/works/10.1038/NRENDO.2015.72

The IGSF1 deficiency syndrome: characteristics of male and female patients

22 April 2017

1 reference

https://api.crossref.org/works/10.1038/NRENDO.2015.72

IGSF1 deficiency syndrome: A newly uncovered endocrinopathy

22 April 2017

1 reference

https://api.crossref.org/works/10.1038/NRENDO.2015.72

Cloning and expression of an immunoglobulin superfamily gene (IGSF1) in Xq25

22 April 2017

1 reference

https://api.crossref.org/works/10.1038/NRENDO.2015.72

Genomewide association studies and assessment of the risk of disease

22 April 2017

1 reference

https://api.crossref.org/works/10.1038/NRENDO.2015.72

A mitochondrial protein compendium elucidates complex I disease biology

22 April 2017

1 reference

https://api.crossref.org/works/10.1038/NRENDO.2015.72

Angptl3 regulates lipid metabolism in mice

22 April 2017

1 reference

https://api.crossref.org/works/10.1038/NRENDO.2015.72

Mutations in PCSK9 cause autosomal dominant hypercholesterolemia

22 April 2017

1 reference

https://api.crossref.org/works/10.1038/NRENDO.2015.72

ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing

22 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4806650

Exome sequencing as a tool for Mendelian disease gene discovery

7 April 2017

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2015.72

Exome sequencing for the diagnosis of 46,XY disorders of sex development.

22 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4806650

Clinical exome sequencing for genetic identification of rare Mendelian disorders

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4806650

Molecular findings among patients referred for clinical whole-exome sequencing

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4806650

Defining the role of common variation in the genomic and biological architecture of adult human height

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4806650

A novel splice mutation in PLS3 causes X-linked early onset low-turnover osteoporosis

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4806650

Mutations in FEZF1 cause Kallmann syndrome

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4806650

Exome sequencing reveals SYCE1 mutation associated with autosomal recessive primary ovarian insufficiency

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4806650

A novel variant in CDKN1C is associated with intrauterine growth restriction, short stature, and early-adulthood-onset diabetes

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4806650

A common Greenlandic TBC1D4 variant confers muscle insulin resistance and type 2 diabetes

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4806650

Loss-of-function mutations in PNPLA6 encoding neuropathy target esterase underlie pubertal failure and neurological deficits in Gordon Holmes syndrome

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4806650

Whole-exome imputation of sequence variants identified two novel alleles associated with adult body height in African Americans.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4806650

Whole exome sequencing to identify genetic causes of short stature

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4806650

Diagnostic clinical genome and exome sequencing

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4806650

Association of a low-frequency variant in HNF1A with type 2 diabetes in a Latino population

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4806650

Genetic evaluation of short stature.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4806650

Overview of the genetic determinants of primary aldosteronism

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4806650

Variant association tools for quality control and analysis of large-scale sequence and genotyping array data

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4806650

Short stature, accelerated bone maturation, and early growth cessation due to heterozygous aggrecan mutations

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4806650

Recurrent activating mutation in PRKACA in cortisol-producing adrenal tumors

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4806650

Impact of tumor sequencing on the use of anticancer drugs.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4806650

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4806650

Thioredoxin Reductase 2 (TXNRD2) mutation associated with familial glucocorticoid deficiency (FGD).

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4806650

Constitutive activation of PKA catalytic subunit in adrenal Cushing's syndrome

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4806650

Whole-exome sequencing identifies rare and low-frequency coding variants associated with LDL cholesterol

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4806650

Association of low-frequency and rare coding-sequence variants with blood lipids and coronary heart disease in 56,000 whites and blacks

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4806650

Multiple phenotypes in phosphoglucomutase 1 deficiency

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4806650

Congenital disorder of fucosylation type 2c (LADII) presenting with short stature and developmental delay with minimal adhesion defect

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4806650

PCSK9: From discovery to therapeutic applications

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4806650

PNPLA6 mutations cause Boucher-Neuhauser and Gordon Holmes syndromes as part of a broad neurodegenerative spectrum

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4806650

Whole exome sequencing of insulinoma reveals recurrent T372R mutations in YY1.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4806650

Whole-exome sequencing of 2,000 Danish individuals and the role of rare coding variants in type 2 diabetes

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4806650

Joint linkage and association analysis with exome sequence data implicates SLC25A40 in hypertriglyceridemia

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4806650

Towards identification of molecular mechanisms of short stature

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4806650

Ataxia and hypogonadism caused by the loss of ubiquitin ligase activity of the U box protein CHIP

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4806650

Assessing the phenotypic effects in the general population of rare variants in genes for a dominant Mendelian form of diabetes

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4806650

Clinical whole-exome sequencing for the diagnosis of mendelian disorders

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4806650

Exome sequencing and directed clinical phenotyping diagnose cholesterol ester storage disease presenting as autosomal recessive hypercholesterolemia

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4806650

a Novel Y152C KCNJ5 mutation responsible for familial hyperaldosteronism type III.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4806650

Somatic mutations in ATP1A1 and CACNA1D underlie a common subtype of adrenal hypertension.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4806650

Mutations in eIF4ENIF1 are associated with primary ovarian insufficiency.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4806650

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4806650

Analysis of the inheritance pattern of a Chinese family with phaeochromocytomas through whole exome sequencing

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4806650

Whole-exome sequencing studies of nonfunctioning pituitary adenomas

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4806650

Somatic mutations in ATP1A1 and ATP2B3 lead to aldosterone-producing adenomas and secondary hypertension

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4806650

Exome sequencing-driven discovery of coding polymorphisms associated with common metabolic phenotypes.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4806650

Novel microcephalic primordial dwarfism disorder associated with variants in the centrosomal protein ninein

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4806650

Whole-exome sequencing studies of nonhereditary (sporadic) parathyroid adenomas

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4806650

Identification of somatic mutations in parathyroid tumors using whole-exome sequencing

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4806650

MCM4 mutation causes adrenal failure, short stature, and natural killer cell deficiency in humans.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4806650

Common variants show predicted polygenic effects on height in the tails of the distribution, except in extremely short individuals

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4806650

Changes in the perceived epidemiology of primary hyperaldosteronism

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4806650

Fezf1 and Fezf2 are required for olfactory development and sensory neuron identity

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4806650

K+ channel mutations in adrenal aldosterone-producing adenomas and hereditary hypertension

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4806650

Recurrent somatic mutations underlie corticotropin-independent Cushing's syndrome.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4806650

Activating hotspot L205R mutation in PRKACA and adrenal Cushing's syndrome

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4806650

Exome sequencing: the expert view

2 June 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2015.72

Transition in endocrinology: induction of puberty

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2015.72

GnRH, anosmia and hypogonadotropic hypogonadism--where are we?

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2015.72

Familial glucocorticoid deficiency: New genes and mechanisms

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2015.72

ACTH resistance: genes and mechanisms

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2015.72

Identification of PENDRIN (SLC26A4) mutations in patients with congenital hypothyroidism and "apparent" thyroid dysgenesis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2015.72

Low LDL cholesterol in individuals of African descent resulting from frequent nonsense mutations in PCSK9.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2015.72

Identification of low-frequency and rare sequence variants associated with elevated or reduced risk of type 2 diabetes

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2015.72

Cyclins D2 and D1 are essential for postnatal pancreatic beta-cell growth

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2015.72

Distinct roles of HNF1beta, HNF1alpha, and HNF4alpha in regulating pancreas development, beta-cell function and growth.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2015.72

Germline and somatic DICER1 mutations in a pituitary blastoma causing infantile-onset Cushing's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2015.72

Integrated genomic characterization of adrenocortical carcinoma

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2015.72

DICER1: mutations, microRNAs and mechanisms

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2015.72

FAM111A mutations result in hypoparathyroidism and impaired skeletal development

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2015.72

Bioinactive ACTH causing glucocorticoid deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2015.72

Mutations in the FOG2/ZFPM2 gene are associated with anomalies of human testis determination

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2015.72

Reporting Incidental Findings in Clinical Whole Exome Sequencing: Incorporation of the 2013 ACMG Recommendations into Current Practices of Genetic Counseling

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4806650

Resistance to therapy in acute promyelocytic leukemia

27 November 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2015.72

ARMC5 mutations are common in familial bilateral macronodular adrenal hyperplasia

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2015.72

Mutations of beta-catenin in adrenocortical tumors: activation of the Wnt signaling pathway is a frequent event in both benign and malignant adrenocortical tumors

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2015.72