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1.

Polycystic Kidney Disease with Hyperinsulinemic Hypoglycemia Caused by a Promoter Mutation in Phosphomannomutase 2.

Cabezas, Oscar Rubio; Flanagan, Sarah E; Stanescu, Horia; García-Martínez, Elena; Caswell, Richard; Lango-Allen, Hana; Antón-Gamero, Montserrat; Argente, Jesús; Bussell, Anna-Marie; Brandli, Andre; Cheshire, Chris; Crowne, Elizabeth; Dumitriu, Simona; Drynda, Robert; Hamilton-Shield, Julian P; Hayes, Wesley; Hofherr, Alexis; Iancu, Daniela; Issler, Naomi; Jefferies, Craig; Jones, Peter; Johnson, Matthew; Kesselheim, Anne; Klootwijk, Enriko; Koettgen, Michael; Lewis, Wendy; Martos, José María; Mozere, Monika; Norman, Jill; Patel, Vaksha; Parrish, Andrew; Pérez-Cerdá, Celia; Pozo, Jesús; Rahman, Sofia A; Sebire, Neil; Tekman, Mehmet; Turnpenny, Peter D; Hoff, William Van't; Viering, Daan H H M; Weedon, Michael N; Wilson, Patricia; Guay-Woodford, Lisa; Kleta, Robert; Hussain, Khalid; Ellard, Sian; Bockenhauer, Detlef.

J Am Soc Nephrol; 28(8): 2529-2539, 2017 08.

Artículo en Inglés | MEDLINE | ID: mdl-28373276

2.

Phosphatidylinositol 4-kinase ß mutations cause nonsyndromic sensorineural deafness and inner ear malformation.

Su, Xiulan; Feng, Yufei; Rahman, Sofia A; Wu, Shuilong; Li, Guoan; Rüschendorf, Franz; Zhao, Lei; Cui, Hongwei; Liang, Junqing; Fang, Liang; Hu, Hao; Froehler, Sebastian; Yu, Yong; Patone, Giannino; Hummel, Oliver; Chen, Qinghua; Raile, Klemens; Luft, Friedrich C; Bähring, Sylvia; Hussain, Khalid; Chen, Wei; Zhang, Jingjing; Gong, Maolian.

J Genet Genomics; 47(10): 618-626, 2020 10 20.

Artículo en Inglés | MEDLINE | ID: mdl-33358777

3.

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

Gregory, Louise C; Ferreira, Carolina B; Young-Baird, Sara K; Williams, Hywel J; Harakalova, Magdalena; van Haaften, Gijs; Rahman, Sofia A; Gaston-Massuet, Carles; Kelberman, Daniel; Qasim, Waseem; Camper, Sally A; Dever, Thomas E; Shah, Pratik; Robinson, Iain C A F; Dattani, Mehul T.

EBioMedicine; 42: 470-480, 2019 Apr.

Artículo en Inglés | MEDLINE | ID: mdl-30878599

4.

Diagnosis and treatment of hyperinsulinaemic hypoglycaemia and its implications for paediatric endocrinology.

Demirbilek, Huseyin; Rahman, Sofia A; Buyukyilmaz, Gonul Gulal; Hussain, Khalid.

Int J Pediatr Endocrinol; 2017: 9, 2017.

Artículo en Inglés | MEDLINE | ID: mdl-28855921

5.

Hyperinsulinaemic hypoglycaemia in children and adults.

Shah, Pratik; Rahman, Sofia A; Demirbilek, Huseyin; Güemes, Maria; Hussain, Khalid.

Lancet Diabetes Endocrinol; 5(9): 729-742, 2017 09.

Artículo en Inglés | MEDLINE | ID: mdl-27915035

6.

Thyroid Hormone Receptor Beta in the Ventromedial Hypothalamus Is Essential for the Physiological Regulation of Food Intake and Body Weight.

Hameed, Saira; Patterson, Michael; Dhillo, Waljit S; Rahman, Sofia A; Ma, Yue; Holton, Christopher; Gogakos, Apostolos; Yeo, Giles S H; Lam, Brian Y H; Polex-Wolf, Joseph; Fenske, Wiebke; Bell, Jimmy; Anastasovska, Jelena; Samarut, Jacques; Bloom, Stephen R; Bassett, J H Duncan; Williams, Graham R; Gardiner, James V.

Cell Rep; 19(11): 2202-2209, 2017 06 13.

Artículo en Inglés | MEDLINE | ID: mdl-28614708

7.

Hyperinsulinemic Hypoglycemia - The Molecular Mechanisms.

Nessa, Azizun; Rahman, Sofia A; Hussain, Khalid.

Front Endocrinol (Lausanne); 7: 29, 2016.

Artículo en Inglés | MEDLINE | ID: mdl-27065949

8.

What is a normal blood glucose?

Güemes, Maria; Rahman, Sofia A; Hussain, Khalid.

Arch Dis Child; 101(6): 569-574, 2016 06.

Artículo en Inglés | MEDLINE | ID: mdl-26369574

9.

A novel ALMS1 homozygous mutation in two Turkish brothers with Alström syndrome.

Laxer, Caley; Rahman, Sofia A; Sherif, Maha; Tahir, Sophia; Cayir, Atilla; Demirbilek, Huseyin; Hussain, Khalid.

J Pediatr Endocrinol Metab; 29(5): 585-9, 2016 May 01.

Artículo en Inglés | MEDLINE | ID: mdl-26910739

10.

Molecular mechanisms of congenital hyperinsulinism.

Rahman, Sofia A; Nessa, Azizun; Hussain, Khalid.

J Mol Endocrinol; 54(2): R119-29, 2015 Apr.

Artículo en Inglés | MEDLINE | ID: mdl-25733449

11.

Dipeptidyl peptidase-4 expression in pancreatic tissue from patients with congenital hyperinsulinism.

Rahman, Sofia A; Senniappan, Senthil; Sherif, Maha; Tahir, Sophia; Hussain, Khalid.

Int J Clin Exp Pathol; 8(7): 8199-208, 2015.

Artículo en Inglés | MEDLINE | ID: mdl-26339388

12.

Use of Long-Acting Somatostatin Analogue (Lanreotide) in an Adolescent with Diazoxide-Responsive Congenital Hyperinsulinism and Its Psychological Impact.

Shah, Pratik; Rahman, Sofia A; McElroy, Sharon; Gilbert, Clare; Morgan, Kate; Hinchey, Louise; Senniappan, Senthil; Levy, Hannah; Amin, Rakesh; Hussain, Khalid.

Horm Res Paediatr; 84(5): 355-60, 2015.

Artículo en Inglés | MEDLINE | ID: mdl-26375451

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