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1.
Transcription factor 7-like 1 is involved in hypothalamo-pituitary axis development in mice and humans.
Proc Natl Acad Sci U S A
; 113(5): E548-57, 2016 Feb 02.
Article
in English
| MEDLINE | ID: mdl-26764381
2.
ARNT2 mutation causes hypopituitarism, post-natal microcephaly, visual and renal anomalies.
Brain
; 136(Pt 10): 3096-105, 2013 Oct.
Article
in English
| MEDLINE | ID: mdl-24022475
3.
Diagnosis and evaluation of hypogonadism.
Pediatr Endocrinol Rev
; 11 Suppl 2: 214-29, 2014 Feb.
Article
in English
| MEDLINE | ID: mdl-24683946
4.
Introme accurately predicts the impact of coding and noncoding variants on gene splicing, with clinical applications.
Genome Biol
; 24(1): 118, 2023 05 17.
Article
in English
| MEDLINE | ID: mdl-37198692
5.
Androgen initiates Sertoli cell tight junction formation in the hypogonadal (hpg) mouse.
Biol Reprod
; 87(2): 38, 2012 Aug.
Article
in English
| MEDLINE | ID: mdl-22623623
6.
The phenotypic spectrum associated with OTX2 mutations in humans.
Eur J Endocrinol
; 185(1): 121-135, 2021 05 25.
Article
in English
| MEDLINE | ID: mdl-33950863
7.
MTOR signaling orchestrates stress-induced mutagenesis, facilitating adaptive evolution in cancer.
Science
; 368(6495): 1127-1131, 2020 06 05.
Article
in English
| MEDLINE | ID: mdl-32499442
8.
Genomic stratification and liquid biopsy in a rare adrenocortical carcinoma (ACC) case, with dual lung metastases.
Cold Spring Harb Mol Case Stud
; 5(2)2019 04.
Article
in English
| MEDLINE | ID: mdl-30936196
9.
Development and validation of a targeted gene sequencing panel for application to disparate cancers.
Sci Rep
; 9(1): 17052, 2019 11 19.
Article
in English
| MEDLINE | ID: mdl-31745186
10.
Evaluation of Streck BCT and PAXgene Stabilised Blood Collection Tubes for Cell-Free Circulating DNA Studies in Plasma.
Mol Diagn Ther
; 21(5): 563-570, 2017 Oct.
Article
in English
| MEDLINE | ID: mdl-28631163
11.
Germline variants in familial pituitary tumour syndrome genes are common in young patients and families with additional endocrine tumours.
Eur J Endocrinol
; 176(5): 635-644, 2017 May.
Article
in English
| MEDLINE | ID: mdl-28220018
12.
Claudin-11 and occludin are major contributors to Sertoli cell tight junction function, in vitro.
Asian J Androl
; 18(4): 620-6, 2016.
Article
in English
| MEDLINE | ID: mdl-26585695
13.
Whole-genome sequencing overcomes pseudogene homology to diagnose autosomal dominant polycystic kidney disease.
Eur J Hum Genet
; 24(11): 1584-1590, 2016 11.
Article
in English
| MEDLINE | ID: mdl-27165007
14.
Novel application of luciferase assay for the in vitro functional assessment of KAL1 variants in three females with septo-optic dysplasia (SOD).
Mol Cell Endocrinol
; 417: 63-72, 2015 Dec 05.
Article
in English
| MEDLINE | ID: mdl-26375424
15.
Genetic aspects of hypothalamic and pituitary gland development.
Handb Clin Neurol
; 124: 3-15, 2014.
Article
in English
| MEDLINE | ID: mdl-25248576
16.
Structural pituitary abnormalities associated with CHARGE syndrome.
J Clin Endocrinol Metab
; 98(4): E737-43, 2013 Apr.
Article
in English
| MEDLINE | ID: mdl-23526466
17.
Variations in PROKR2, but not PROK2, are associated with hypopituitarism and septo-optic dysplasia.
J Clin Endocrinol Metab
; 98(3): E547-57, 2013 Mar.
Article
in English
| MEDLINE | ID: mdl-23386640
18.
Pituitary gland development: an update.
Endocr Dev
; 23: 1-15, 2012.
Article
in English
| MEDLINE | ID: mdl-23182816
19.
Genetic overlap in Kallmann syndrome, combined pituitary hormone deficiency, and septo-optic dysplasia.
J Clin Endocrinol Metab
; 97(4): E694-9, 2012 Apr.
Article
in English
| MEDLINE | ID: mdl-22319038
20.
Novel FGF8 mutations associated with recessive holoprosencephaly, craniofacial defects, and hypothalamo-pituitary dysfunction.
J Clin Endocrinol Metab
; 96(10): E1709-18, 2011 Oct.
Article
in English
| MEDLINE | ID: mdl-21832120