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Items: 1 to 50 of 534

1.

The role of molecular genetics in the clinical management of sporadic medullary thyroid carcinoma.

Fussey JM, Vaidya B, Kim D, Clark J, Ellard S, Smith JA.

Clin Endocrinol (Oxf). 2019 Jul 13. doi: 10.1111/cen.14060. [Epub ahead of print]

PMID:
31301229
2.

Type 1 diabetes genetic risk score discriminates between monogenic and Type 1 diabetes in children diagnosed at the age of <5 years in the Iranian population.

Yaghootkar H, Abbasi F, Ghaemi N, Rabbani A, Wakeling MN, Eshraghi P, Enayati S, Vakili S, Heidari S, Patel K, Sayarifard F, Borhan-Dayani S, McDonald TJ, Ellard S, Hattersley AT, Amoli MM, Vakili R, Colclough K.

Diabet Med. 2019 Jul 5. doi: 10.1111/dme.14071. [Epub ahead of print]

PMID:
31276222
3.

Mutations in PIGB Cause an Inherited GPI Biosynthesis Defect with an Axonal Neuropathy and Metabolic Abnormality in Severe Cases.

Murakami Y, Nguyen TTM, Baratang N, Raju PK, Knaus A, Ellard S, Jones G, Lace B, Rousseau J, Ajeawung NF, Kamei A, Minase G, Akasaka M, Araya N, Koshimizu E, van den Ende J, Erger F, Altmüller J, Krumina Z, Strautmanis J, Inashkina I, Stavusis J, El-Gharbawy A, Sebastian J, Puri RD, Kulshrestha S, Verma IC, Maier EM, Haack TB, Israni A, Baptista J, Gunning A, Rosenfeld JA, Liu P, Joosten M, Rocha ME, Hashem MO, Aldhalaan HM, Alkuraya FS, Miyatake S, Matsumoto N, Krawitz PM, Rossignol E, Kinoshita T, Campeau PM.

Am J Hum Genet. 2019 Jun 25. pii: S0002-9297(19)30206-X. doi: 10.1016/j.ajhg.2019.05.019. [Epub ahead of print]

PMID:
31256876
4.

A Phase II Study of PX-866 in Patients With Recurrent or Metastatic Castration-resistant Prostate Cancer: Canadian Cancer Trials Group Study IND205.

Hotte SJ, Chi KN, Joshua AM, Tu D, Macfarlane RJ, Gregg RW, Ruether JD, Basappa NS, Finch D, Salim M, Winquist EW, Torri V, North S, Kollmannsberger C, Ellard SL, Eigl BJ, Tinker A, Allan AL, Beja K, Annala M, Powers J, Wyatt AW, Seymour L; Canadian Cancer Trials Group (formerly NCIC Clinical Trials Group).

Clin Genitourin Cancer. 2019 Jun;17(3):201-208.e1. doi: 10.1016/j.clgc.2019.03.005. Epub 2019 Mar 15.

PMID:
31056399
5.

Compound heterozygous Pkd1l1 variants in a family with two fetuses affected by heterotaxy and complex Chd.

Le Fevre A, Baptista J, Ellard S, Overton T, Oliver A, Gradhand E, Scurr I.

Eur J Med Genet. 2019 Apr 23. pii: S1769-7212(18)30904-2. doi: 10.1016/j.ejmg.2019.04.014. [Epub ahead of print]

PMID:
31026592
6.

A Specific CNOT1 Mutation Results in a Novel Syndrome of Pancreatic Agenesis and Holoprosencephaly through Impaired Pancreatic and Neurological Development.

De Franco E, Watson RA, Weninger WJ, Wong CC, Flanagan SE, Caswell R, Green A, Tudor C, Lelliott CJ, Geyer SH, Maurer-Gesek B, Reissig LF, Lango Allen H, Caliebe A, Siebert R, Holterhus PM, Deeb A, Prin F, Hilbrands R, Heimberg H, Ellard S, Hattersley AT, Barroso I.

Am J Hum Genet. 2019 May 2;104(5):985-989. doi: 10.1016/j.ajhg.2019.03.018. Epub 2019 Apr 18.

7.

Trisomy 21 Is a Cause of Permanent Neonatal Diabetes That Is Autoimmune but Not HLA Associated.

Johnson MB, De Franco E, Greeley SAW, Letourneau LR, Gillespie KM; International DS-PNDM Consortium, Wakeling MN, Ellard S, Flanagan SE, Patel KA, Hattersley AT.

Diabetes. 2019 Jul;68(7):1528-1535. doi: 10.2337/db19-0045. Epub 2019 Apr 8.

PMID:
30962220
8.

A preliminary trial examining a 'real world' approach for increasing physical activity among breast cancer survivors: findings from project MOVE.

Caperchione CM, Sabiston CM, Stolp S, Bottorff JL, Campbell KL, Eves ND, Ellard SL, Gotay C, Sharp P, Pullen T, Fitzpatrick KM.

BMC Cancer. 2019 Mar 27;19(1):272. doi: 10.1186/s12885-019-5470-2.

9.

Juvenile Diabetes & Visual Impairment: Wolfram Syndrome.

Annamalai AK, Ellard S, Shanmugam M, Juganya TPJ, De Franco E.

QJM. 2019 Mar 19. pii: hcz066. doi: 10.1093/qjmed/hcz066. [Epub ahead of print] No abstract available.

PMID:
30888424
10.

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]

11.

An Amish founder variant consolidates disruption of CEP55 as a cause of hydranencephaly and renal dysplasia.

Rawlins LE, Jones H, Wenger O, Aye M, Fasham J, Harlalka GV, Chioza BA, Miron A, Ellard S, Wakeling M, Crosby AH, Baple EL.

Eur J Hum Genet. 2019 Apr;27(4):657-662. doi: 10.1038/s41431-018-0306-0. Epub 2019 Jan 8.

12.

NAD(P)HX dehydratase (NAXD) deficiency: a novel neurodegenerative disorder exacerbated by febrile illnesses.

Van Bergen NJ, Guo Y, Rankin J, Paczia N, Becker-Kettern J, Kremer LS, Pyle A, Conrotte JF, Ellaway C, Procopis P, Prelog K, Homfray T, Baptista J, Baple E, Wakeling M, Massey S, Kay DP, Shukla A, Girisha KM, Lewis LES, Santra S, Power R, Daubeney P, Montoya J, Ruiz-Pesini E, Kovacs-Nagy R, Pritsch M, Ahting U, Thorburn DR, Prokisch H, Taylor RW, Christodoulou J, Linster CL, Ellard S, Hakonarson H.

Brain. 2019 Jan 1;142(1):50-58. doi: 10.1093/brain/awy310.

PMID:
30576410
13.

ICR142 Benchmarker: evaluating, optimising and benchmarking variant calling performance using the ICR142 NGS validation series.

Ruark E, Holt E, Renwick A, Münz M, Wakeling M, Ellard S, Mahamdallie S, Yost S, Rahman N.

Version 2. Wellcome Open Res. 2018 Oct 31 [revised 2018 Jan 1];3:108. doi: 10.12688/wellcomeopenres.14754.2. eCollection 2018.

14.

Correction: Homozygosity mapping provides supporting evidence of pathogenicity in recessive Mendelian disease.

Wakeling MN, Laver TW, Wright CF, De Franco E, Stals KL, Patch AM, Hattersley AT, Flanagan SE, Ellard S; DDD Study.

Genet Med. 2019 Mar;21(3):766. doi: 10.1038/s41436-018-0357-1.

PMID:
30446706
15.

Clinical Diversity in Focal Congenital Hyperinsulinism in Infancy Correlates With Histological Heterogeneity of Islet Cell Lesions.

Craigie RJ, Salomon-Estebanez M, Yau D, Han B, Mal W, Newbould M, Cheesman E, Bitetti S, Mohamed Z, Sajjan R, Padidela R, Skae M, Flanagan S, Ellard S, Cosgrove KE, Banerjee I, Dunne MJ.

Front Endocrinol (Lausanne). 2018 Oct 17;9:619. doi: 10.3389/fendo.2018.00619. eCollection 2018.

16.

Homozygosity mapping provides supporting evidence of pathogenicity in recessive Mendelian disease.

Wakeling MN, Laver TW, Wright CF, De Franco E, Stals KL, Patch AM, Hattersley AT, Flanagan SE, Ellard S; DDD Study.

Genet Med. 2019 Apr;21(4):982-986. doi: 10.1038/s41436-018-0281-4. Epub 2018 Oct 3. Erratum in: Genet Med. 2018 Nov 16;:.

17.

Comprehensive screening shows that mutations in the known syndromic genes are rare in infants presenting with hyperinsulinaemic hypoglycaemia.

Laver TW, Wakeling MN, Hua JHY, Houghton JAL, Hussain K, Ellard S, Flanagan SE.

Clin Endocrinol (Oxf). 2018 Nov;89(5):621-627. doi: 10.1111/cen.13841. Epub 2018 Sep 20.

18.

A UK nationwide prospective study of treatment change in MODY: genetic subtype and clinical characteristics predict optimal glycaemic control after discontinuing insulin and metformin.

Shepherd MH, Shields BM, Hudson M, Pearson ER, Hyde C, Ellard S, Hattersley AT, Patel KA; UNITED study.

Diabetologia. 2018 Dec;61(12):2520-2527. doi: 10.1007/s00125-018-4728-6. Epub 2018 Sep 18.

19.

ISPAD Clinical Practice Consensus Guidelines 2018: The diagnosis and management of monogenic diabetes in children and adolescents.

Hattersley AT, Greeley SAW, Polak M, Rubio-Cabezas O, Njølstad PR, Mlynarski W, Castano L, Carlsson A, Raile K, Chi DV, Ellard S, Craig ME.

Pediatr Diabetes. 2018 Oct;19 Suppl 27:47-63. doi: 10.1111/pedi.12772. No abstract available.

PMID:
30225972
20.

TRPV6 compound heterozygous variants result in impaired placental calcium transport and severe undermineralization and dysplasia of the fetal skeleton.

Burren CP, Caswell R, Castle B, Welch CR, Hilliard TN, Smithson SF, Ellard S.

Am J Med Genet A. 2018 Sep;176(9):1950-1955. doi: 10.1002/ajmg.a.40484. Epub 2018 Aug 25.

21.

Safety and dose modification for patients receiving niraparib.

Berek JS, Matulonis UA, Peen U, Ghatage P, Mahner S, Redondo A, Lesoin A, Colombo N, Vergote I, Rosengarten O, Ledermann J, Pineda M, Ellard S, Sehouli J, Gonzalez-Martin A, Berton-Rigaud D, Madry R, Reinthaller A, Hazard S, Guo W, Mirza MR.

Ann Oncol. 2019 May 1;30(5):859. doi: 10.1093/annonc/mdy255. No abstract available.

PMID:
30107447
22.

Correction: "Congenital hyperinsulinism as the presenting feature of Kabuki syndrome: clinical and molecular characterization of 10 affected individuals".

Yap KL, Johnson AEK, Fischer D, Kandikatla P, Deml J, Nelakuditi V, Halbach S, Jeha GS, Burrage LC, Bodamer O, Benavides VC, Lewis AM, Ellard S, Shah P, Cody D, Diaz A, Devarajan A, Truong L, Greeley SAW, De Leon DD, Edmondson AC, Das S, Thornton P, Waggoner D, Del Gaudio D.

Genet Med. 2019 Jan;21(1):262-265. doi: 10.1038/s41436-018-0126-1.

PMID:
30097611
23.

Exocrine pancreatic dysfunction is common in hepatocyte nuclear factor 1β-associated renal disease and can be symptomatic.

Clissold RL, Fulford J, Hudson M, Shields BM, McDonald TJ, Ellard S, Hattersley AT, Bingham C.

Clin Kidney J. 2018 Aug;11(4):453-458. doi: 10.1093/ckj/sfx150. Epub 2018 Jan 30.

24.

Utilizing RE-AIM to examine the translational potential of Project MOVE, a novel intervention for increasing physical activity levels in breast cancer survivors.

Pullen T, Bottorff JL, Sabiston CM, Campbell KL, Eves ND, Ellard SL, Gotay C, Fitzpatrick K, Sharp P, Caperchione CM.

Transl Behav Med. 2018 Jul 30. doi: 10.1093/tbm/iby081. [Epub ahead of print]

PMID:
30060250
25.

Response to Letter to the Editor: "p.Val804Met, the Most Frequent Pathogenic Mutation in RET, Confers a Very Low Lifetime Risk of Medullary Thyroid Cancer".

Turnbull C, Loveday C, Izatt L, Ellard S.

J Clin Endocrinol Metab. 2018 Sep 1;103(9):3518-3519. doi: 10.1210/jc.2018-01094. No abstract available.

PMID:
30032180
26.

PLIN1 Haploinsufficiency Is Not Associated With Lipodystrophy.

Laver TW, Patel KA, Colclough K, Curran J, Dale J, Davis N, Savage DB, Flanagan SE, Ellard S, Hattersley AT, Weedon MN.

J Clin Endocrinol Metab. 2018 Sep 1;103(9):3225-3230. doi: 10.1210/jc.2017-02662.

27.

Diazoxide toxicity in a child with persistent hyperinsulinemic hypoglycemia of infancy: mixed hyperglycemic hyperosmolar coma and ketoacidosis.

Mangla P, Hussain K, Ellard S, Flanagan SE, Bhatia V.

J Pediatr Endocrinol Metab. 2018 Aug 28;31(8):943-945. doi: 10.1515/jpem-2018-0112.

PMID:
29958183
28.

Congenital hyperinsulinism as the presenting feature of Kabuki syndrome: clinical and molecular characterization of 9 affected individuals.

Yap KL, Johnson AEK, Fischer D, Kandikatla P, Deml J, Nelakuditi V, Halbach S, Jeha GS, Burrage LC, Bodamer O, Benavides VC, Lewis AM, Ellard S, Shah P, Cody D, Diaz A, Devarajan A, Truong L, Greeley SAW, De Leó-Crutchlow DD, Edmondson AC, Das S, Thornton P, Waggoner D, Del Gaudio D.

Genet Med. 2019 Jan;21(1):233-242. doi: 10.1038/s41436-018-0013-9. Epub 2018 Jun 15. Erratum in: Genet Med. 2018 Aug 11;:.

PMID:
29907798
29.

Hemizygous UBA5 missense mutation unmasks recessive disorder in a patient with infantile-onset encephalopathy, acquired microcephaly, small cerebellum, movement disorder and severe neurodevelopmental delay.

Low KJ, Baptista J, Babiker M, Caswell R, King C, Ellard S, Scurr I.

Eur J Med Genet. 2019 Feb;62(2):97-102. doi: 10.1016/j.ejmg.2018.06.009. Epub 2018 Jun 12. No abstract available.

PMID:
29902590
30.

The Common HNF1A Variant I27L Is a Modifier of Age at Diabetes Diagnosis in Individuals With HNF1A-MODY.

Locke JM, Saint-Martin C, Laver TW, Patel KA, Wood AR, Sharp SA, Ellard S, Bellanné-Chantelot C, Hattersley AT, Harries LW, Weedon MN.

Diabetes. 2018 Sep;67(9):1903-1907. doi: 10.2337/db18-0133. Epub 2018 Jun 12.

31.

Effectiveness and safety of long-term treatment with sulfonylureas in patients with neonatal diabetes due to KCNJ11 mutations: an international cohort study.

Bowman P, Sulen Å, Barbetti F, Beltrand J, Svalastoga P, Codner E, Tessmann EH, Juliusson PB, Skrivarhaug T, Pearson ER, Flanagan SE, Babiker T, Thomas NJ, Shepherd MH, Ellard S, Klimes I, Szopa M, Polak M, Iafusco D, Hattersley AT, Njølstad PR; Neonatal Diabetes International Collaborative Group.

Lancet Diabetes Endocrinol. 2018 Aug;6(8):637-646. doi: 10.1016/S2213-8587(18)30106-2. Epub 2018 Jun 4. Erratum in: Lancet Diabetes Endocrinol. 2018 Sep;6(9):e17.

32.

Safety and dose modification for patients receiving niraparib.

Berek JS, Matulonis UA, Peen U, Ghatage P, Mahner S, Redondo A, Lesoin A, Colombo N, Vergote I, Rosengarten O, Ledermann J, Pineda M, Ellard S, Sehouli J, Gonzalez-Martin A, Berton-Rigaud D, Madry R, Reinthaller A, Hazard S, Guo W, Mirza MR.

Ann Oncol. 2018 Aug 1;29(8):1784-1792. doi: 10.1093/annonc/mdy181.

PMID:
29767688
33.

Congenital Hyperinsulinism and Evolution to Sulfonylurearesponsive Diabetes Later in Life due to a Novel Homozygous p.L171F ABCC8 Mutation

Işık E, Demirbilek H, Houghton JA, Ellard S, Flanagan SE, Hussain K.

J Clin Res Pediatr Endocrinol. 2019 Feb 20;11(1):82-87. doi: 10.4274/jcrpe.galenos.2018.2018.0077. Epub 2018 Mar 29.

34.

Congenital Titinopathy: Comprehensive characterization and pathogenic insights.

Oates EC, Jones KJ, Donkervoort S, Charlton A, Brammah S, Smith JE 3rd, Ware JS, Yau KS, Swanson LC, Whiffin N, Peduto AJ, Bournazos A, Waddell LB, Farrar MA, Sampaio HA, Teoh HL, Lamont PJ, Mowat D, Fitzsimons RB, Corbett AJ, Ryan MM, O'Grady GL, Sandaradura SA, Ghaoui R, Joshi H, Marshall JL, Nolan MA, Kaur S, Punetha J, Töpf A, Harris E, Bakshi M, Genetti CA, Marttila M, Werlauff U, Streichenberger N, Pestronk A, Mazanti I, Pinner JR, Vuillerot C, Grosmann C, Camacho A, Mohassel P, Leach ME, Foley AR, Bharucha-Goebel D, Collins J, Connolly AM, Gilbreath HR, Iannaccone ST, Castro D, Cummings BB, Webster RI, Lazaro L, Vissing J, Coppens S, Deconinck N, Luk HM, Thomas NH, Foulds NC, Illingworth MA, Ellard S, McLean CA, Phadke R, Ravenscroft G, Witting N, Hackman P, Richard I, Cooper ST, Kamsteeg EJ, Hoffman EP, Bushby K, Straub V, Udd B, Ferreiro A, North KN, Clarke NF, Lek M, Beggs AH, Bönnemann CG, MacArthur DG, Granzier H, Davis MR, Laing NG.

Ann Neurol. 2018 Jun;83(6):1105-1124. doi: 10.1002/ana.25241.

35.

p.Val804Met, the Most Frequent Pathogenic Mutation in RET, Confers a Very Low Lifetime Risk of Medullary Thyroid Cancer.

Loveday C, Josephs K, Chubb D, Gunning A, Izatt L, Tischkowitz M, Ellard S, Turnbull C.

J Clin Endocrinol Metab. 2018 Nov 1;103(11):4275-4282. doi: 10.1210/jc.2017-02529.

36.

Focal Congenital Hyperinsulinism as a Cause for Sudden Infant Death.

Chinoy A, Banerjee I, Flanagan SE, Ellard S, Han B, Mohamed Z, Dunne MJ, Bitetti S.

Pediatr Dev Pathol. 2019 Jan-Feb;22(1):65-69. doi: 10.1177/1093526618765376. Epub 2018 Mar 20.

PMID:
29558846
37.

Permanent neonatal diabetes mellitus and neurological abnormalities due to a novel homozygous missense mutation in NEUROD1.

Demirbilek H, Hatipoglu N, Gul U, Tatli ZU, Ellard S, Flanagan SE, De Franco E, Kurtoglu S.

Pediatr Diabetes. 2018 Aug;19(5):898-904. doi: 10.1111/pedi.12669. Epub 2018 Mar 27.

PMID:
29521454
38.

Prevalence of diabetes in Australia: insights from the Fremantle Diabetes Study Phase II.

Davis WA, Peters KE, Makepeace A, Griffiths S, Bundell C, Grant SFA, Ellard S, Hattersley AT, Paul Chubb SA, Bruce DG, Davis TME.

Intern Med J. 2018 Jul;48(7):803-809. doi: 10.1111/imj.13792.

39.

Phenotype of CNTNAP1: a study of patients demonstrating a specific severe congenital hypomyelinating neuropathy with survival beyond infancy.

Low KJ, Stals K, Caswell R, Wakeling M, Clayton-Smith J, Donaldson A, Foulds N, Norman A, Splitt M, Urankar K, Vijayakumar K, Majumdar A, Study D, Ellard S, Smithson SF.

Eur J Hum Genet. 2018 Jun;26(6):796-807. doi: 10.1038/s41431-018-0110-x. Epub 2018 Mar 6.

40.

A randomized phase II study of pelareorep and docetaxel or docetaxel alone in men with metastatic castration resistant prostate cancer: CCTG study IND 209.

Eigl BJ, Chi K, Tu D, Hotte SJ, Winquist E, Booth CM, Canil C, Potvin K, Gregg R, North S, Zulfiqar M, Ellard S, Ruether JD, Le L, Kakumanu AS, Salim M, Allan AL, Feilotter H, Theis A, Seymour L.

Oncotarget. 2018 Jan 17;9(8):8155-8164. doi: 10.18632/oncotarget.24263. eCollection 2018 Jan 30.

41.

Pharmacogenomics in diabetes: outcomes of thiamine therapy in TRMA syndrome.

Habeb AM, Flanagan SE, Zulali MA, Abdullah MA, Pomahačová R, Boyadzhiev V, Colindres LE, Godoy GV, Vasanthi T, Al Saif R, Setoodeh A, Haghighi A, Haghighi A, Shaalan Y; International Neonatal Diabetes Consortium, Hattersley AT, Ellard S, De Franco E.

Diabetologia. 2018 May;61(5):1027-1036. doi: 10.1007/s00125-018-4554-x. Epub 2018 Feb 15.

42.

Risk category system to identify pituitary adenoma patients with AIP mutations.

Caimari F, Hernández-Ramírez LC, Dang MN, Gabrovska P, Iacovazzo D, Stals K, Ellard S, Korbonits M; International FIPA consortium.

J Med Genet. 2018 Apr;55(4):254-260. doi: 10.1136/jmedgenet-2017-104957. Epub 2018 Feb 10.

43.

A type 1 diabetes genetic risk score can discriminate monogenic autoimmunity with diabetes from early-onset clustering of polygenic autoimmunity with diabetes.

Johnson MB, Patel KA, De Franco E, Houghton JAL, McDonald TJ, Ellard S, Flanagan SE, Hattersley AT.

Diabetologia. 2018 Apr;61(4):862-869. doi: 10.1007/s00125-018-4551-0. Epub 2018 Feb 7.

44.

Acceptability and satisfaction of project MOVE: A pragmatic feasibility trial aimed at increasing physical activity in female breast cancer survivors.

Pullen T, Sharp P, Bottorff JL, Sabiston CM, Campbell KL, Ellard SL, Gotay C, Fitzpatrick K, Caperchione CM.

Psychooncology. 2018 Apr;27(4):1251-1256. doi: 10.1002/pon.4662. Epub 2018 Mar 1.

45.

MAFA missense mutation causes familial insulinomatosis and diabetes mellitus.

Iacovazzo D, Flanagan SE, Walker E, Quezado R, de Sousa Barros FA, Caswell R, Johnson MB, Wakeling M, Brändle M, Guo M, Dang MN, Gabrovska P, Niederle B, Christ E, Jenni S, Sipos B, Nieser M, Frilling A, Dhatariya K, Chanson P, de Herder WW, Konukiewitz B, Klöppel G, Stein R, Korbonits M, Ellard S.

Proc Natl Acad Sci U S A. 2018 Jan 30;115(5):1027-1032. doi: 10.1073/pnas.1712262115. Epub 2018 Jan 16.

46.

Genetic mutations associated with neonatal diabetes mellitus in Omani patients.

Al Senani A, Hamza N, Al Azkawi H, Al Kharusi M, Al Sukaiti N, Al Badi M, Al Yahyai M, Johnson M, De Franco E, Flanagan S, Hattersley A, Ellard S, Mula-Abed WA.

J Pediatr Endocrinol Metab. 2018 Jan 26;31(2):195-204. doi: 10.1515/jpem-2017-0284.

PMID:
29329106
47.

Emergence of insulin resistance following empirical glibenclamide therapy: a case report of neonatal diabetes with a recessive INS gene mutation.

Yildiz M, Akcay T, Aydin B, Akgun A, Dogan BB, De Franco E, Ellard S, Onal H.

J Pediatr Endocrinol Metab. 2018 Mar 28;31(3):345-348. doi: 10.1515/jpem-2017-0325.

PMID:
29305569
48.

Erratum. Recessively Inherited LRBA Mutations Cause Autoimmunity Presenting as Neonatal Diabetes. Diabetes 2017;66:2316-2322.

Johnson MB, De Franco E, Lango Allen H, Al Senani A, Elbarbary N, Siklar Z, Berberoglu M, Imane Z, Haghighi A, Razavi Z, Ullah I, Alyaarubi S, Gardner D, Ellard S, Hattersley AT, Flanagan SE.

Diabetes. 2018 Mar;67(3):532. doi: 10.2337/db18-er03b. Epub 2018 Jan 5. No abstract available.

49.

Correction: Reinauer et al., The Clinical Course of Patients with Preschool Manifestation of Type 1 Diabetes Is Independent of the HLA DR-DQ Genotype. Genes 2017, 8, 146.

Reinauer C, Rosenbauer J, Bächle C, Herder C, Roden M, Ellard S, De Franco E, Karges B, Holl RW, Enczmann J, Meissner T.

Genes (Basel). 2018 Jan 3;9(1). pii: E13. doi: 10.3390/genes9010013.

50.

WNT Signaling Perturbations Underlie the Genetic Heterogeneity of Robinow Syndrome.

White JJ, Mazzeu JF, Coban-Akdemir Z, Bayram Y, Bahrambeigi V, Hoischen A, van Bon BWM, Gezdirici A, Gulec EY, Ramond F, Touraine R, Thevenon J, Shinawi M, Beaver E, Heeley J, Hoover-Fong J, Durmaz CD, Karabulut HG, Marzioglu-Ozdemir E, Cayir A, Duz MB, Seven M, Price S, Ferreira BM, Vianna-Morgante AM, Ellard S, Parrish A, Stals K, Flores-Daboub J, Jhangiani SN, Gibbs RA; Baylor-Hopkins Center for Mendelian Genomics, Brunner HG, Sutton VR, Lupski JR, Carvalho CMB.

Am J Hum Genet. 2018 Jan 4;102(1):27-43. doi: 10.1016/j.ajhg.2017.10.002. Epub 2017 Dec 21.

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