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Sotos Syndrome Presenting with Neonatal Hyperinsulinaemic Hypoglycaemia, Extensive Thrombosis, and Multisystem Involvement.

Cerbone M, Clement E, McClatchey M, Dobbin J, Gilbert C, Keane M, Boukhibar L, Williams H, Gagunashvili A, Dattani MT, Hurst J, Shah P.

Horm Res Paediatr. 2019 Mar 15:1-7. doi: 10.1159/000496545. [Epub ahead of print]


Impaired EIF2S3 function associated with a novel phenotype of X-linked hypopituitarism with glucose dysregulation.

Gregory LC, Ferreira CB, Young-Baird SK, Williams HJ, Harakalova M, van Haaften G, Rahman SA, Gaston-Massuet C, Kelberman D, GOSgene, Qasim W, Camper SA, Dever TE, Shah P, Robinson ICAF, Dattani MT.

EBioMedicine. 2019 Mar 13. pii: S2352-3964(19)30153-7. doi: 10.1016/j.ebiom.2019.03.013. [Epub ahead of print]


Understanding variations in the treatment of significant polyps and early colorectal cancer.

Dattani M, Moran BJ.

Colorectal Dis. 2019 Mar;21 Suppl 1:57-59. doi: 10.1111/codi.14508. No abstract available.


Partial diazoxide responsiveness in a neonate with hyperinsulinism due to homozygous ABCC8 mutation.

Kiff S, Babb C, Guemes M, Dastamani A, Gilbert C, Flanagan SE, Ellard S, Barton J, Dattani M, Shah P.

Endocrinol Diabetes Metab Case Rep. 2019 Feb 11;2019. pii: EDM180120. doi: 10.1530/EDM-18-0120. [Epub ahead of print]


Letrozole: a new treatment for delayed puberty in boys?

Dattani MT.

Lancet Child Adolesc Health. 2019 Feb;3(2):60-62. doi: 10.1016/S2352-4642(18)30405-X. Epub 2019 Jan 4. No abstract available.


The current landscape of European registries for rare endocrine conditions.

Ali SR, Bryce J, Cools M, Korbonits M, Beun JG, Taruscio D, Danne T, Dattani M, Dekkers OM, Linglart A, Netchine I, Nordenstrom A, Patocs A, Persani L, Reisch N, Smyth A, Sumnik Z, Visser WE, Hiort O, Pereira AM, Ahmed SF.

Eur J Endocrinol. 2019 Jan 1;180(1):89-98. doi: 10.1530/EJE-18-0861.


Tall stature: a challenge for clinicians.

Corredor B, Dattani M, Gertosio C, Bozzola M.

Curr Pediatr Rev. 2018 Nov 4. doi: 10.2174/1573396314666181105092917. [Epub ahead of print]


2018 European Thyroid Association (ETA) Guidelines on the Diagnosis and Management of Central Hypothyroidism.

Persani L, Brabant G, Dattani M, Bonomi M, Feldt-Rasmussen U, Fliers E, Gruters A, Maiter D, Schoenmakers N, van Trotsenburg ASP.

Eur Thyroid J. 2018 Oct;7(5):225-237. doi: 10.1159/000491388. Epub 2018 Jul 19.


A New Multisystem Disorder Caused by the Gαs Mutation p.F376V.

Biebermann H, Kleinau G, Schnabel D, Bockenhauer D, Wilson LC, Tully I, Kiff S, Scheerer P, Reyes M, Paisdzior S, Gregory JW, Allgrove J, Krude H, Mannstadt M, Gardella TJ, Dattani M, Jüppner H, Grüters A.

J Clin Endocrinol Metab. 2019 Apr 1;104(4):1079-1089. doi: 10.1210/jc.2018-01250.


Mutations in TOP3A Cause a Bloom Syndrome-like Disorder.

Martin CA, Sarlós K, Logan CV, Thakur RS, Parry DA, Bizard AH, Leitch A, Cleal L, Ali NS, Al-Owain MA, Allen W, Altmüller J, Aza-Carmona M, Barakat BAY, Barraza-García J, Begtrup A, Bogliolo M, Cho MT, Cruz-Rojo J, Dhahrabi HAM, Elcioglu NH; GOSgene, Gorman GS, Jobling R, Kesterton I, Kishita Y, Kohda M, Le Quesne Stabej P, Malallah AJ, Nürnberg P, Ohtake A, Okazaki Y, Pujol R, Ramirez MJ, Revah-Politi A, Shimura M, Stevens P, Taylor RW, Turner L, Williams H, Wilson C, Yigit G, Zahavich L, Alkuraya FS, Surralles J, Iglesias A, Murayama K, Wollnik B, Dattani M, Heath KE, Hickson ID, Jackson AP.

Am J Hum Genet. 2018 Sep 6;103(3):456. doi: 10.1016/j.ajhg.2018.08.012. No abstract available.


The Use of a Long-Acting Somatostatin Analogue (Lanreotide) in Three Children with Focal Forms of Congenital Hyperinsulinaemic Hypoglycaemia.

Dastamani A, Güemes M, Pitfield C, Morgan K, Rajab M, Rottenburger C, Bomanji J, De Coppi P, Dattani M, Shah P.

Horm Res Paediatr. 2018 Aug 16:1-6. doi: 10.1159/000491101. [Epub ahead of print]


Post-Prandial Hyperinsulinaemic Hypoglycaemia after Oesophageal Surgery in Children.

Dastamani A, Malhorta N, Güemes M, Morgan K, Rees CM, Dattani M, Shah P.

Horm Res Paediatr. 2018 Aug 9:1-5. doi: 10.1159/000491647. [Epub ahead of print]


A novel IGSF1 mutation in a large Irish kindred highlights the need for familial screening in the IGSF1 deficiency syndrome.

Roche EF, McGowan A, Koulouri O, Turgeon MO, Nicholas AK, Heffernan E, El-Khairi R, Abid N, Lyons G, Halsall D, Bonomi M, Persani L, Dattani MT, Gurnell M, Bernard DJ, Schoenmakers N.

Clin Endocrinol (Oxf). 2018 Dec;89(6):813-823. doi: 10.1111/cen.13827. Epub 2018 Oct 1.


Mutations in TOP3A Cause a Bloom Syndrome-like Disorder.

Martin CA, Sarlós K, Logan CV, Thakur RS, Parry DA, Bizard AH, Leitch A, Cleal L, Ali NS, Al-Owain MA, Allen W, Altmüller J, Aza-Carmona M, Barakat BAY, Barraza-García J, Begtrup A, Bogliolo M, Cho MT, Cruz-Rojo J, Dhahrabi HAM, Elcioglu NH; GOSgene, Gorman GS, Jobling R, Kesterton I, Kishita Y, Kohda M, Le Quesne Stabej P, Malallah AJ, Nürnberg P, Ohtake A, Okazaki Y, Pujol R, Ramirez MJ, Revah-Politi A, Shimura M, Stevens P, Taylor RW, Turner L, Williams H, Wilson C, Yigit G, Zahavich L, Alkuraya FS, Surralles J, Iglesias A, Murayama K, Wollnik B, Dattani M, Heath KE, Hickson ID, Jackson AP.

Am J Hum Genet. 2018 Aug 2;103(2):221-231. doi: 10.1016/j.ajhg.2018.07.001. Epub 2018 Jul 26. Erratum in: Am J Hum Genet. 2018 Sep 6;103(3):456.


Variations in the management of significant polyps and early colorectal cancer: results from a multicentre observational study of 383 patients.

Dattani M, Crane S, Battersby NJ, Di Fabio F, Saunders BP, Dolwani S, Rutter MD, Moran BJ; SPECC study group.

Colorectal Dis. 2018 Dec;20(12):1088-1096. doi: 10.1111/codi.14342. Epub 2018 Aug 6.


Session 4: Shaping radiotherapy for rectal cancer: should this be personalized?

Dattani M, Marijnen C, Moran B, Tait D, Cunningham C, Rodriguez-Bigas M, Brown G.

Colorectal Dis. 2018 May;20 Suppl 1:92-96. doi: 10.1111/codi.14087.


Dominant-negative STAT5B mutations cause growth hormone insensitivity with short stature and mild immune dysregulation.

Klammt J, Neumann D, Gevers EF, Andrew SF, Schwartz ID, Rockstroh D, Colombo R, Sanchez MA, Vokurkova D, Kowalczyk J, Metherell LA, Rosenfeld RG, Pfäffle R, Dattani MT, Dauber A, Hwa V.

Nat Commun. 2018 May 29;9(1):2105. doi: 10.1038/s41467-018-04521-0.


Oncological and Survival Outcomes in Watch and Wait Patients With a Clinical Complete Response After Neoadjuvant Chemoradiotherapy for Rectal Cancer: A Systematic Review and Pooled Analysis.

Dattani M, Heald RJ, Goussous G, Broadhurst J, São Julião GP, Habr-Gama A, Perez RO, Moran BJ.

Ann Surg. 2018 Dec;268(6):955-967. doi: 10.1097/SLA.0000000000002761.


45,X/46,XY Mosaicism Presenting With Isolated Unilateral Cryptorchidism and a Normal Blood Karyotype.

Morandi G, Cerbone M, Lamback EB, Rapti E, Dattani MT.

J Clin Endocrinol Metab. 2018 Jun 1;103(6):2079-2082. doi: 10.1210/jc.2017-02671.


Growth Hormone Research Society perspective on biomarkers of GH action in children and adults.

Johannsson G, Bidlingmaier M, Biller BMK, Boguszewski M, Casanueva FF, Chanson P, Clayton PE, Choong CS, Clemmons D, Dattani M, Frystyk J, Ho K, Hoffman AR, Horikawa R, Juul A, Kopchick JJ, Luo X, Neggers S, Netchine I, Olsson DS, Radovick S, Rosenfeld R, Ross RJ, Schilbach K, Solberg P, Strasburger C, Trainer P, Yuen KCJ, Wickstrom K, Jorgensen JOL; Growth Hormone Research Society.

Endocr Connect. 2018 Mar;7(3):R126-R134. doi: 10.1530/EC-18-0047. Epub 2018 Feb 26. Review.


Homozygous Resistance to Thyroid Hormone β: Can Combined Antithyroid Drug and Triiodothyroacetic Acid Treatment Prevent Cardiac Failure?

Moran C, Habeb AM, Kahaly GJ, Kampmann C, Hughes M, Marek J, Rajanayagam O, Kuczynski A, Vargha-Khadem F, Morsy M, Offiah AC, Poole K, Ward K, Lyons G, Halsall D, Berman L, Watson L, Baguley D, Mollon J, Moore AT, Holder GE, Dattani M, Chatterjee K.

J Endocr Soc. 2017 Aug 8;1(9):1203-1212. doi: 10.1210/js.2017-00204. eCollection 2017 Sep 1.


Progression from isolated growth hormone deficiency to combined pituitary hormone deficiency.

Cerbone M, Dattani MT.

Growth Horm IGF Res. 2017 Dec;37:19-25. doi: 10.1016/j.ghir.2017.10.005. Epub 2017 Oct 19. Review.


A rectal cancer feasibility study with an embedded phase III trial design assessing magnetic resonance tumour regression grade (mrTRG) as a novel biomarker to stratify management by good and poor response to chemoradiotherapy (TRIGGER): study protocol for a randomised controlled trial.

Battersby NJ, Dattani M, Rao S, Cunningham D, Tait D, Adams R, Moran BJ, Khakoo S, Tekkis P, Rasheed S, Mirnezami A, Quirke P, West NP, Nagtegaal I, Chong I, Sadanandam A, Valeri N, Thomas K, Frost M, Brown G.

Trials. 2017 Aug 29;18(1):394. doi: 10.1186/s13063-017-2085-2.


Two Siblings with a Mutation in CCDC8 Presenting with Mild Short Stature: A Case of 3-M Syndrome.

Liao L, Gan HW, Hwa V, Dattani M, Dauber A.

Horm Res Paediatr. 2017;88(5):364-370. doi: 10.1159/000477907. Epub 2017 Jul 4.


Intrafamilial Phenotypic Variability and Consequences of Non-Compliance with Treatment in Congenital Adrenal Hyperplasia and Congenital Hypothyroidism within a Single Family

Improda N, Ponmani C, Schoenmakers N, Senniappan S, Atterbury A, Barnicoat A, Chatterjee K, Dattani MT.

Horm Res Paediatr. 2017;88(2):172-178. doi: 10.1159/000465521. Epub 2017 Mar 30.


Growth Hormone With Aromatase Inhibitor May Improve Height in CYP11B1 Congenital Adrenal Hyperplasia.

Hawton K, Walton-Betancourth S, Rumsby G, Raine J, Dattani M.

Pediatrics. 2017 Feb;139(2). pii: e20160730. doi: 10.1542/peds.2016-0730.


Cushing syndrome in a child due to pro-opiomelanocortin (POMC) secretion from a yolk sac tumor.

Gevers EF, Meredith S, Shah P, Torpiano J, Peters C, Sebire NJ, Slater O, White A, Dattani MT.

Eur J Endocrinol. 2017 Feb;176(2):K1-K7. doi: 10.1530/EJE-16-0776. Epub 2016 Nov 22.


Mitochondrial disease and endocrine dysfunction.

Chow J, Rahman J, Achermann JC, Dattani MT, Rahman S.

Nat Rev Endocrinol. 2017 Feb;13(2):92-104. doi: 10.1038/nrendo.2016.151. Epub 2016 Oct 7. Review.


The mesorectum and mesocolon - Making sense of words.

Dattani M, Santiago I, Mahadevan V, Heald RJ.

Int J Surg. 2016 Dec;36(Pt A):390-391. doi: 10.1016/j.ijsu.2016.09.097. Epub 2016 Oct 15. No abstract available.


Insulin resistance uncoupled from dyslipidemia due to C-terminal PIK3R1 mutations.

Huang-Doran I, Tomlinson P, Payne F, Gast A, Sleigh A, Bottomley W, Harris J, Daly A, Rocha N, Rudge S, Clark J, Kwok A, Romeo S, McCann E, Müksch B, Dattani M, Zucchini S, Wakelam M, Foukas LC, Savage DB, Murphy R, O'Rahilly S, Barroso I, Semple RK.

JCI Insight. 2016 Oct 20;1(17):e88766. doi: 10.1172/jci.insight.88766.



Kunle-Hassan F, Dattani M, Snead M, Subash M.

Retin Cases Brief Rep. 2018 Summer;12(3):216-218. doi: 10.1097/ICB.0000000000000458.


Reply to Haboubi and Salmo.

Dattani M, Moran BJ.

Colorectal Dis. 2016 Dec;18(12):1187. doi: 10.1111/codi.13543. No abstract available.


Comprehensive Screening of Eight Known Causative Genes in Congenital Hypothyroidism With Gland-in-Situ.

Nicholas AK, Serra EG, Cangul H, Alyaarubi S, Ullah I, Schoenmakers E, Deeb A, Habeb AM, Almaghamsi M, Peters C, Nathwani N, Aycan Z, Saglam H, Bober E, Dattani M, Shenoy S, Murray PG, Babiker A, Willemsen R, Thankamony A, Lyons G, Irwin R, Padidela R, Tharian K, Davies JH, Puthi V, Park SM, Massoud AF, Gregory JW, Albanese A, Pease-Gevers E, Martin H, Brugger K, Maher ER, Chatterjee VK, Anderson CA, Schoenmakers N.

J Clin Endocrinol Metab. 2016 Dec;101(12):4521-4531. Epub 2016 Aug 15.


Partial Loss of Function of the GHRH Receptor Leads to Mild Growth Hormone Deficiency.

Gregory LC, Alatzoglou KS, McCabe MJ, Hindmarsh PC, Saldanha JW, Romano N, Le Tissier P, Dattani MT.

J Clin Endocrinol Metab. 2016 Oct;101(10):3608-3615. Epub 2016 Aug 8.


Primus-Eugen Mullis, MD (1954-2016).

Dattani M, Mullis A, Flück CE.

Pediatr Endocrinol Rev. 2016 Jun;13(4):712-3. No abstract available.


Molecular spectrum of TSHβ subunit gene defects in central hypothyroidism in the UK and Ireland.

Nicholas AK, Jaleel S, Lyons G, Schoenmakers E, Dattani MT, Crowne E, Bernhard B, Kirk J, Roche EF, Chatterjee VK, Schoenmakers N.

Clin Endocrinol (Oxf). 2017 Mar;86(3):410-418. doi: 10.1111/cen.13149. Epub 2016 Aug 4.


Reply to: Does MRI Restaging of Rectal Cancer After Chemoradiotherapy Actually Permit a Change in Surgical Management?

Battersby NJ, Moran B, Stelzner S, West NP, Branagan G, Strassburg J, Quirke P, Dattani M, Tekkis P, Ginnerup Pedersen B, Hagemann-Madsen GTR, Gudgeon M, Heald B, Brown G.

Ann Surg. 2017 Dec;266(6):e116-e118. doi: 10.1097/SLA.0000000000001791. No abstract available.


Management of Cushing syndrome in children and adolescents: experience of a single tertiary centre.

Güemes M, Murray PG, Brain CE, Spoudeas HA, Peters CJ, Hindmarsh PC, Dattani MT.

Eur J Pediatr. 2016 Jul;175(7):967-76. doi: 10.1007/s00431-016-2727-5. Epub 2016 May 12.


"SPECC and SPECULATION": Is a significant polyp benign or an early colorectal cancer? How do we know and what do we do?

Moran B, Dattani M.

Colorectal Dis. 2016 Aug;18(8):745-8. doi: 10.1111/codi.13372. No abstract available.


Tolvaptan is successful in treating inappropriate antidiuretic hormone secretion in infants.

Marx-Berger D, Milford DV, Bandhakavi M, Van't Hoff W, Kleta R, Dattani M, Bockenhauer D.

Acta Paediatr. 2016 Jul;105(7):e334-7. doi: 10.1111/apa.13415. Epub 2016 Apr 14.


HESX1 mutations in patients with congenital hypopituitarism: variable phenotypes with the same genotype.

Fang Q, Benedetti AF, Ma Q, Gregory L, Li JZ, Dattani M, Sadeghi-Nejad A, Arnhold IJ, Mendonca BB, Camper SA, Carvalho LR.

Clin Endocrinol (Oxf). 2016 Sep;85(3):408-14. doi: 10.1111/cen.13067. Epub 2016 Apr 28.


Watch and wait after neoadjuvant therapy for rectal cancer.

Dattani M, Moran BJ.

Br J Surg. 2016 May;103(6):629-631. doi: 10.1002/bjs.10172. Epub 2016 Mar 17. No abstract available.


Primus-Eugen Mullis, November 1954 - January 2016.

Flück CE, Dattani M, Mullis A.

Horm Res Paediatr. 2016;85(3):219-20. doi: 10.1159/000444667. Epub 2016 Mar 12. No abstract available.


Evaluation of growth hormone stimulation testing in children.

Chesover AD, Dattani MT.

Clin Endocrinol (Oxf). 2016 May;84(5):708-14. doi: 10.1111/cen.13035. Epub 2016 Feb 25.


Transcription factor 7-like 1 is involved in hypothalamo-pituitary axis development in mice and humans.

Gaston-Massuet C, McCabe MJ, Scagliotti V, Young RM, Carreno G, Gregory LC, Jayakody SA, Pozzi S, Gualtieri A, Basu B, Koniordou M, Wu CI, Bancalari RE, Rahikkala E, Veijola R, Lopponen T, Graziola F, Turton J, Signore M, Mousavy Gharavy SN, Charolidi N, Sokol SY, Andoniadou CL, Wilson SW, Merrill BJ, Dattani MT, Martinez-Barbera JP.

Proc Natl Acad Sci U S A. 2016 Feb 2;113(5):E548-57. doi: 10.1073/pnas.1503346113. Epub 2016 Jan 13.


Recent advances in central congenital hypothyroidism.

Schoenmakers N, Alatzoglou KS, Chatterjee VK, Dattani MT.

J Endocrinol. 2015 Dec;227(3):R51-71. doi: 10.1530/JOE-15-0341. Epub 2015 Sep 28. Review.


Novel application of luciferase assay for the in vitro functional assessment of KAL1 variants in three females with septo-optic dysplasia (SOD).

McCabe MJ, Hu Y, Gregory LC, Gaston-Massuet C, Alatzoglou KS, Saldanha JW, Gualtieri A, Thankamony A, Hughes I, Townshend S, Martinez-Barbera JP, Bouloux PM, Dattani MT.

Mol Cell Endocrinol. 2015 Dec 5;417:63-72. doi: 10.1016/j.mce.2015.09.010. Epub 2015 Sep 14.


Decade in review-paediatric endocrinology: New genes, new therapies.

Dattani MT.

Nat Rev Endocrinol. 2015 Nov;11(11):638-9. doi: 10.1038/nrendo.2015.154. Epub 2015 Sep 8. No abstract available.


Growth and hormone profiling in children with congenital melanocytic naevi.

Waelchli R, Williams J, Cole T, Dattani M, Hindmarsh P, Kennedy H, Martinez A, Khan S, Semple RK, White A, Sebire N, Healy E, Moore G, Kinsler VA.

Br J Dermatol. 2015 Dec;173(6):1471-8. doi: 10.1111/bjd.14091. Epub 2015 Nov 17. Erratum in: Br J Dermatol. 2016 Jul;175(1):226-7.


Expert consensus document: European Consensus Statement on congenital hypogonadotropic hypogonadism--pathogenesis, diagnosis and treatment.

Boehm U, Bouloux PM, Dattani MT, de Roux N, Dodé C, Dunkel L, Dwyer AA, Giacobini P, Hardelin JP, Juul A, Maghnie M, Pitteloud N, Prevot V, Raivio T, Tena-Sempere M, Quinton R, Young J.

Nat Rev Endocrinol. 2015 Sep;11(9):547-64. doi: 10.1038/nrendo.2015.112. Epub 2015 Jul 21. Review.


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