Mark James McCabe
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Year
Genetic overlap in Kallmann syndrome, combined pituitary hormone deficiency, and septo-optic dysplasia
T Raivio, M Avbelj, MJ McCabe, CJ Romero, AA Dwyer, J Tommiska, ...
The Journal of Clinical Endocrinology & Metabolism 97 (4), E694-E699, 2012
1382012
Septo-optic dysplasia and other midline defects: The role of transcription factors: HESX1 and beyond
MJ McCabe, KS Alatzoglou, MT Dattani
Best practice & research Clinical endocrinology & metabolism 25 (1), 115-124, 2011
1072011
Novel FGF8 Mutations Associated with Recessive Holoprosencephaly, Craniofacial Defects, and Hypothalamo-Pituitary Dysfunction
MJ McCabe, C Gaston-Massuet, V Tziaferi, LC Gregory, KS Alatzoglou, ...
The Journal of Clinical Endocrinology & Metabolism 96 (10), E1709-E1718, 2011
1062011
Variations in PROKR2, But Not PROK2, Are Associated With Hypopituitarism and Septo-optic Dysplasia
MJ McCabe, C Gaston-Massuet, LC Gregory, KS Alatzoglou, V Tziaferi, ...
The Journal of Clinical Endocrinology & Metabolism 98 (3), E547-E557, 2013
732013
ARNT2 mutation causes hypopituitarism, post-natal microcephaly, visual and renal anomalies
EA Webb, A AlMutair, D Kelberman, C Bacchelli, E Chanudet, F Lescai, ...
Brain 136 (10), 3096-3105, 2013
682013
Pituitary gland development: an update
RE Bancalari, LC Gregory, MJ McCabe, MT Dattani
Developmental Biology of GH Secretion, Growth and Treatment 23, 1-15, 2012
612012
Whole-genome sequencing overcomes pseudogene homology to diagnose autosomal dominant polycystic kidney disease
AC Mallawaarachchi, Y Hort, MJ Cowley, MJ McCabe, A Minoche, ...
European Journal of Human Genetics 24 (11), 1584, 2016
512016
Gonadotropins Regulate Rat Testicular Tight Junctions in Vivo
MJ McCabe, GA Tarulli, SJ Meachem, DM Robertson, PM Smooker, ...
Endocrinology 151 (6), 2911-2922, 2010
492010
Evaluation of Streck BCT and PAXgene Stabilised Blood Collection Tubes for Cell-Free Circulating DNA Studies in Plasma
K Warton, NL Yuwono, MJ Cowley, MJ McCabe, A So, CE Ford
Molecular Diagnosis & Therapy 21 (5), 563-570, 2017
472017
Androgen Initiates Sertoli Cell Tight Junction Formation in the Hypogonadal (hpg) Mouse
MJ McCabe, CM Allan, CFH Foo, PK Nicholls, KJ McTavish, PG Stanton
Biology of reproduction 87 (2), 38, 1-8, 2012
462012
Transcription factor 7-like 1 is involved in hypothalamo–pituitary axis development in mice and humans
C Gaston-Massuet, MJ McCabe, V Scagliotti, RM Young, G Carreno, ...
Proceedings of the National Academy of Sciences 113 (5), E548-E557, 2016
442016
Genetic aspects of hypothalamic and pituitary gland development
MJ McCabe, MT Dattani
Handbook of clinical neurology 124, 3-15, 2014
362014
Structural pituitary abnormalities associated with CHARGE syndrome
LC Gregory, EF Gevers, J Baker, T Kasia, K Chong, DJ Josifova, ...
The Journal of Clinical Endocrinology & Metabolism 98 (4), E737-E743, 2013
342013
Novel Lethal Form of Congenital Hypopituitarism Associated With the First Recessive LHX4 Mutation
LC Gregory, KN Humayun, JPG Turton, MJ McCabe, SJ Rhodes, ...
The Journal of Clinical Endocrinology & Metabolism 100 (6), 2158-2164, 2015
292015
Claudin-11 and occludin are major contributors to Sertoli cell tight junction function, in vitro
MJ McCabe, CFH Foo, ME Dinger, PM Smooker, PG Stanton
Asian Journal of Andrology 18 (4), 620-626, 2016
282016
The role of the sonic hedgehog signalling pathway in patients with midline defects and congenital hypopituitarism
LC Gregory, C Gaston‐Massuet, CL Andoniadou, G Carreno, EA Webb, ...
Clinical endocrinology 82 (5), 728-738, 2015
262015
Germline variants in familial pituitary tumour syndrome genes are common in young patients and families with additional endocrine tumours
SMC De Sousa, MJ McCabe, K Wu, T Roscioli, V Gayevskiy, K Brook, ...
European Journal of Endocrinology 176 (5), 635-644, 2017
232017
MTOR signaling orchestrates stress-induced mutagenesis, facilitating adaptive evolution in cancer
A Cipponi, DL Goode, J Bedo, MJ McCabe, M Pajic, DR Croucher, ...
Science 368 (6495), 1127-1131, 2020
202020
Diagnosis and evaluation of hypogonadism.
MJ McCabe, RE Bancalari, MT Dattani
Pediatric Endocrinology Reviews: PER 11, 214-229, 2014
182014
Gonadotropin suppression in men leads to a reduction in claudin-11 at the Sertoli cell tight junction
MJ McCabe, GA Tarulli, G Laven-Law, KL Matthiesson, SJ Meachem, ...
Human Reproduction 31 (4), 875-886, 2016
152016
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