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Items: 43

1.

Enabling Global Clinical Collaborations on Identifiable Patient Data: The Minerva Initiative.

Nellåker C, Alkuraya FS, Baynam G, Bernier RA, Bernier FPJ, Boulanger V, Brudno M, Brunner HG, Clayton-Smith J, Cogné B, Dawkins HJS, deVries BBA, Douzgou S, Dudding-Byth T, Eichler EE, Ferlaino M, Fieggen K, Firth HV, FitzPatrick DR, Gration D, Groza T, Haendel M, Hallowell N, Hamosh A, Hehir-Kwa J, Hitz MP, Hughes M, Kini U, Kleefstra T, Kooy RF, Krawitz P, Küry S, Lees M, Lyon GJ, Lyonnet S, Marcadier JL, Meyn S, Moslerová V, Politei JM, Poulton CC, Raymond FL, Reijnders MRF, Robinson PN, Romano C, Rose CM, Sainsbury DCG, Schofield L, Sutton VR, Turnovec M, Van Dijck A, Van Esch H, Wilkie AOM; Minerva Consortium.

Front Genet. 2019 Jul 29;10:611. doi: 10.3389/fgene.2019.00611. eCollection 2019.

2.

PEDIA: prioritization of exome data by image analysis.

Hsieh TC, Mensah MA, Pantel JT, Aguilar D, Bar O, Bayat A, Becerra-Solano L, Bentzen HB, Biskup S, Borisov O, Braaten O, Ciaccio C, Coutelier M, Cremer K, Danyel M, Daschkey S, Eden HD, Devriendt K, Wilson S, Douzgou S, Đukić D, Ehmke N, Fauth C, Fischer-Zirnsak B, Fleischer N, Gabriel H, Graul-Neumann L, Gripp KW, Gurovich Y, Gusina A, Haddad N, Hajjir N, Hanani Y, Hertzberg J, Hoertnagel K, Howell J, Ivanovski I, Kaindl A, Kamphans T, Kamphausen S, Karimov C, Kathom H, Keryan A, Knaus A, Köhler S, Kornak U, Lavrov A, Leitheiser M, Lyon GJ, Mangold E, Reina PM, Carrascal AM, Mitter D, Herrador LM, Nadav G, Nöthen M, Orrico A, Ott CE, Park K, Peterlin B, Pölsler L, Raas-Rothschild A, Randolph L, Revencu N, Fagerberg CR, Robinson PN, Rosnev S, Rudnik S, Rudolf G, Schatz U, Schossig A, Schubach M, Shanoon O, Sheridan E, Smirin-Yosef P, Spielmann M, Suk EK, Sznajer Y, Thiel CT, Thiel G, Verloes A, Vrecar I, Wahl D, Weber I, Winter K, Wiśniewska M, Wollnik B, Yeung MW, Zhao M, Zhu N, Zschocke J, Mundlos S, Horn D, Krawitz PM.

Genet Med. 2019 Jun 5. doi: 10.1038/s41436-019-0566-2. [Epub ahead of print]

PMID:
31164752
3.

Congenital cataracts in females caused by BCOR mutations; report of six further families demonstrating clinical variability and diverse genetic mechanisms.

Redwood A, Douzgou S, Waller S, Ramsden S, Roberts A, Bonin H, Lloyd IC, Ashworth J, Black GCM, Clayton-Smith J.

Eur J Med Genet. 2019 Apr 30. pii: S1769-7212(18)30911-X. doi: 10.1016/j.ejmg.2019.04.015. [Epub ahead of print]

PMID:
31048080
4.

Chromosome 1q31.2q32.1 deletion in an adult male with intellectual disability, dysmorphic features and obesity.

Hyder Z, Fairclough A, Douzgou S.

Clin Dysmorphol. 2019 Jul;28(3):131-136. doi: 10.1097/MCD.0000000000000281.

PMID:
31045593
5.

The clinical presentation caused by truncating CHD8 variants.

Douzgou S, Liang HW, Metcalfe K, Somarathi S, Tischkowitz M, Mohamed W, Kini U, McKee S, Yates L, Bertoli M, Lynch SA, Holder S; Deciphering Developmental Disorders Study, Banka S.

Clin Genet. 2019 Jul;96(1):72-84. doi: 10.1111/cge.13554. Epub 2019 May 14.

PMID:
31001818
6.

A patient with a novel CNTNAP2 homozygous variant: further delineation of the CASPR2 deficiency syndrome and review of the literature.

Riccardi F, Urquhart J, McCullagh G, Lawrence P, Douzgou S.

Clin Dysmorphol. 2019 Apr;28(2):66-70. doi: 10.1097/MCD.0000000000000259. No abstract available.

PMID:
30762603
7.

Pathogenicity and selective constraint on variation near splice sites.

Lord J, Gallone G, Short PJ, McRae JF, Ironfield H, Wynn EH, Gerety SS, He L, Kerr B, Johnson DS, McCann E, Kinning E, Flinter F, Temple IK, Clayton-Smith J, McEntagart M, Lynch SA, Joss S, Douzgou S, Dabir T, Clowes V, McConnell VPM, Lam W, Wright CF, FitzPatrick DR, Firth HV, Barrett JC, Hurles ME; Deciphering Developmental Disorders study.

Genome Res. 2019 Feb;29(2):159-170. doi: 10.1101/gr.238444.118. Epub 2018 Dec 26.

8.

A case of diencephalic syndrome presenting with isolated lipodystrophy.

McDermott JH, Harris J, Fédée J, Skae M, Semple R, Douzgou S.

Clin Dysmorphol. 2018 Oct;27(4):122-125. doi: 10.1097/MCD.0000000000000235.

PMID:
29994870
9.

De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder.

Reijnders MRF, Miller KA, Alvi M, Goos JAC, Lees MM, de Burca A, Henderson A, Kraus A, Mikat B, de Vries BBA, Isidor B, Kerr B, Marcelis C, Schluth-Bolard C, Deshpande C, Ruivenkamp CAL, Wieczorek D; Deciphering Developmental Disorders Study, Baralle D, Blair EM, Engels H, Lüdecke HJ, Eason J, Santen GWE, Clayton-Smith J, Chandler K, Tatton-Brown K, Payne K, Helbig K, Radtke K, Nugent KM, Cremer K, Strom TM, Bird LM, Sinnema M, Bitner-Glindzicz M, van Dooren MF, Alders M, Koopmans M, Brick L, Kozenko M, Harline ML, Klaassens M, Steinraths M, Cooper NS, Edery P, Yap P, Terhal PA, van der Spek PJ, Lakeman P, Taylor RL, Littlejohn RO, Pfundt R, Mercimek-Andrews S, Stegmann APA, Kant SG, McLean S, Joss S, Swagemakers SMA, Douzgou S, Wall SA, Küry S, Calpena E, Koelling N, McGowan SJ, Twigg SRF, Mathijssen IMJ, Nellaker C, Brunner HG, Wilkie AOM.

Am J Hum Genet. 2018 Jun 7;102(6):1195-1203. doi: 10.1016/j.ajhg.2018.04.014. Epub 2018 May 31.

10.

PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature.

Reijnders MRF, Janowski R, Alvi M, Self JE, van Essen TJ, Vreeburg M, Rouhl RPW, Stevens SJC, Stegmann APA, Schieving J, Pfundt R, van Dijk K, Smeets E, Stumpel CTRM, Bok LA, Cobben JM, Engelen M, Mansour S, Whiteford M, Chandler KE, Douzgou S, Cooper NS, Tan EC, Foo R, Lai AHM, Rankin J, Green A, Lönnqvist T, Isohanni P, Williams S, Ruhoy I, Carvalho KS, Dowling JJ, Lev DL, Sterbova K, Lassuthova P, Neupauerová J, Waugh JL, Keros S, Clayton-Smith J, Smithson SF, Brunner HG, van Hoeckel C, Anderson M, Clowes VE, Siu VM, Ddd Study T, Selber P, Leventer RJ, Nellaker C, Niessing D, Hunt D, Baralle D.

J Med Genet. 2018 Feb;55(2):104-113. doi: 10.1136/jmedgenet-2017-104946. Epub 2017 Nov 2. Review.

11.

Hypoglycaemia represents a clinically significant manifestation of PIK3CA- and CCND2-associated segmental overgrowth.

McDermott JH, Hickson N, Banerjee I, Murray PG, Ram D, Metcalfe K, Clayton-Smith J, Douzgou S.

Clin Genet. 2018 Mar;93(3):687-692. doi: 10.1111/cge.13145. Epub 2018 Feb 5.

PMID:
28941273
12.

Further Clinical Delineation of the MEF2C Haploinsufficiency Syndrome: Report on New Cases and Literature Review of Severe Neurodevelopmental Disorders Presenting with Seizures, Absent Speech, and Involuntary Movements.

Vrečar I, Innes J, Jones EA, Kingston H, Reardon W, Kerr B, Clayton-Smith J, Douzgou S.

J Pediatr Genet. 2017 Sep;6(3):129-141. doi: 10.1055/s-0037-1601335. Epub 2017 Apr 12. Review.

13.

Diagnosing childhood-onset inborn errors of metabolism by next-generation sequencing.

Ghosh A, Schlecht H, Heptinstall LE, Bassett JK, Cartwright E, Bhaskar SS, Urquhart J, Broomfield A, Morris AA, Jameson E, Schwahn BC, Walter JH, Douzgou S, Murphy H, Hendriksz C, Sharma R, Wilcox G, Crushell E, Monavari AA, Martin R, Doolan A, Senniappan S, Ramsden SC, Jones SA, Banka S.

Arch Dis Child. 2017 Nov;102(11):1019-1029. doi: 10.1136/archdischild-2017-312738. Epub 2017 May 3.

PMID:
28468868
14.

Panel-Based Clinical Genetic Testing in 85 Children with Inherited Retinal Disease.

Taylor RL, Parry NRA, Barton SJ, Campbell C, Delaney CM, Ellingford JM, Hall G, Hardcastle C, Morarji J, Nichol EJ, Williams LC, Douzgou S, Clayton-Smith J, Ramsden SC, Sharma V, Biswas S, Lloyd IC, Ashworth JL, Black GC, Sergouniotis PI.

Ophthalmology. 2017 Jul;124(7):985-991. doi: 10.1016/j.ophtha.2017.02.005. Epub 2017 Mar 22.

PMID:
28341476
15.

The evolving craniofacial phenotype of a patient with Sensenbrenner syndrome caused by IFT140 compound heterozygous mutations.

Bayat A, Kerr B, Douzgou S; DDD Study.

Clin Dysmorphol. 2017 Oct;26(4):247-251. doi: 10.1097/MCD.0000000000000169. No abstract available.

PMID:
28288023
16.

Interrupted/bipartite clavicle as a diagnostic clue in Kabuki syndrome.

Haanpää M, Schlecht H, Batra G, Clayton-Smith J, Douzgou S.

Am J Med Genet A. 2017 Apr;173(4):1115-1118. doi: 10.1002/ajmg.a.38131. Epub 2017 Mar 3.

PMID:
28256057
17.

Severe intellectual disability in a patient with Burn-McKeown syndrome.

Strang-Karlsson S, Urquhart J, Newman WG, Douzgou S.

Clin Dysmorphol. 2017 Jul;26(3):193-194. doi: 10.1097/MCD.0000000000000175. No abstract available.

PMID:
28225383
18.

Diagnosing the cause of bilateral paediatric cataracts: comparison of standard testing with a next-generation sequencing approach.

Musleh M, Hall G, Lloyd IC, Gillespie RL, Waller S, Douzgou S, Clayton-Smith J, Kehdi E, Black GC, Ashworth J.

Eye (Lond). 2016 Sep;30(9):1175-81. doi: 10.1038/eye.2016.105. Epub 2016 Jun 17.

19.

Two patients with chromosome 22q11.2 deletion presenting with childhood obesity and hyperphagia.

Bassett JK, Chandler KE, Douzgou S.

Eur J Med Genet. 2016 Aug;59(8):401-3. doi: 10.1016/j.ejmg.2016.05.008. Epub 2016 May 13.

PMID:
27184501
20.

Gain-of-Function Mutations in RARB Cause Intellectual Disability with Progressive Motor Impairment.

Srour M, Caron V, Pearson T, Nielsen SB, Lévesque S, Delrue MA, Becker TA, Hamdan FF, Kibar Z, Sattler SG, Schneider MC, Bitoun P, Chassaing N, Rosenfeld JA, Xia F, Desai S, Roeder E, Kimonis V, Schneider A, Littlejohn RO, Douzgou S, Tremblay A, Michaud JL.

Hum Mutat. 2016 Aug;37(8):786-93. doi: 10.1002/humu.23004. Epub 2016 May 9.

PMID:
27120018
21.

Severe constipation in a patient with Myhre syndrome: a case report.

Bassett JK, Douzgou S, Kerr B.

Clin Dysmorphol. 2016 Apr;25(2):54-7. doi: 10.1097/MCD.0000000000000109.

PMID:
26636501
22.

Collaborative Crowdsourcing for the Diagnosis of Rare Genetic Syndromes: The DYSCERNE Experience.

Douzgou S, Pollalis YA, Vozikis A, Patrinos GP, Clayton-Smith J.

Public Health Genomics. 2016;19(1):19-24. doi: 10.1159/000440710. Epub 2015 Oct 9.

PMID:
26447648
23.

35-Year Follow-Up of a Case of Ring Chromosome 2: Array-CGH Analysis and Literature Review of the Ring Syndrome.

Sarri C, Douzgou S, Kontos H, Anagnostopoulou K, Tümer Z, Grigoriadou M, Petersen MB, Kokotas H, Merou K, Pandelia E, Giouroukou E, Papanikolaou K, Côté GB, Gyftodimou Y.

Cytogenet Genome Res. 2015;145(1):6-13. doi: 10.1159/000382046. Epub 2015 May 14. Review.

PMID:
25997743
24.

Dysmorphology services: a snapshot of current practices and a vision for the future.

Douzgou S, Chervinsky E, Gyftodimou Y, Kitsiou-Tzeli S, Shalev S, Kanavakis E, Donnai D, Clayton-Smith J.

Clin Genet. 2016 Jan;89(1):27-33. doi: 10.1111/cge.12571. Epub 2015 Mar 9.

PMID:
25683496
25.

Compound heterozygosity of low-frequency promoter deletions and rare loss-of-function mutations in TXNL4A causes Burn-McKeown syndrome.

Wieczorek D, Newman WG, Wieland T, Berulava T, Kaffe M, Falkenstein D, Beetz C, Graf E, Schwarzmayr T, Douzgou S, Clayton-Smith J, Daly SB, Williams SG, Bhaskar SS, Urquhart JE, Anderson B, O'Sullivan J, Boute O, Gundlach J, Czeschik JC, van Essen AJ, Hazan F, Park S, Hing A, Kuechler A, Lohmann DR, Ludwig KU, Mangold E, Steenpaß L, Zeschnigk M, Lemke JR, Lourenco CM, Hehr U, Prott EC, Waldenberger M, Böhmer AC, Horsthemke B, O'Keefe RT, Meitinger T, Burn J, Lüdecke HJ, Strom TM.

Am J Hum Genet. 2014 Dec 4;95(6):698-707. doi: 10.1016/j.ajhg.2014.10.014. Epub 2014 Nov 26.

26.

Dysmorphology at a distance: results of a web-based diagnostic service.

Douzgou S, Clayton-Smith J, Gardner S, Day R, Griffiths P, Strong K; DYSCERNE expert panel.

Eur J Hum Genet. 2014 Mar;22(3):327-32. doi: 10.1038/ejhg.2013.137. Epub 2013 Jul 10.

27.

Niemann-Pick type C disease: a novel NPC1 mutation segregating in a Greek island.

Mavridou I, Cozar M, Douzgou S, Xaidara A, Lianou D, Vanier MT, Dimitriou E, Grinberg D, Vilageliu L, Michelakakis H.

Clin Genet. 2014 Jun;85(6):543-7. doi: 10.1111/cge.12200. Epub 2013 Jun 12.

PMID:
23701245
28.

Neurocognitive effects of methylphenidate on ADHD children with different DAT genotypes: a longitudinal open label trial.

Pasini A, Sinibaldi L, Paloscia C, Douzgou S, Pitzianti MB, Romeo E, Curatolo P, Pizzuti A.

Eur J Paediatr Neurol. 2013 Jul;17(4):407-14. doi: 10.1016/j.ejpn.2013.02.002. Epub 2013 Mar 28.

PMID:
23541676
29.

Haploinsufficiency of SOX5, a member of the SOX (SRY-related HMG-box) family of transcription factors is a cause of intellectual disability.

Schanze I, Schanze D, Bacino CA, Douzgou S, Kerr B, Zenker M.

Eur J Med Genet. 2013 Feb;56(2):108-13. doi: 10.1016/j.ejmg.2012.11.001. Epub 2012 Dec 5.

PMID:
23220431
30.

Diagnosing fetal alcohol syndrome: new insights from newer genetic technologies.

Douzgou S, Breen C, Crow YJ, Chandler K, Metcalfe K, Jones E, Kerr B, Clayton-Smith J.

Arch Dis Child. 2012 Sep;97(9):812-7. doi: 10.1136/archdischild-2012-302125. Epub 2012 Jul 14.

PMID:
22798695
31.

Complex distal 10q rearrangement in a girl with mild intellectual disability: follow up of the patient and review of the literature of non-acrocentric satellited chromosomes.

Sarri C, Douzgou S, Gyftodimou Y, Tümer Z, Ravn K, Pasparaki A, Sarafidou T, Kontos H, Kokotas H, Karadima G, Grigoriadou M, Pandelia E, Theodorou V, Moschonas NK, Petersen MB.

Am J Med Genet A. 2011 Nov;155A(11):2841-54. doi: 10.1002/ajmg.a.34259. Epub 2011 Sep 30. Review.

PMID:
21964744
32.

Generalized pulp stones: report of a case with 6-year follow-up.

Donta C, Kavvadia K, Panopoulos P, Douzgou S.

Int Endod J. 2011 Oct;44(10):976-82. doi: 10.1111/j.1365-2591.2011.01903.x. Epub 2011 Jun 30.

PMID:
21718334
33.

Mutation spectrum of MLL2 in a cohort of Kabuki syndrome patients.

Micale L, Augello B, Fusco C, Selicorni A, Loviglio MN, Silengo MC, Reymond A, Gumiero B, Zucchetti F, D'Addetta EV, Belligni E, Calcagnì A, Digilio MC, Dallapiccola B, Faravelli F, Forzano F, Accadia M, Bonfante A, Clementi M, Daolio C, Douzgou S, Ferrari P, Fischetto R, Garavelli L, Lapi E, Mattina T, Melis D, Patricelli MG, Priolo M, Prontera P, Renieri A, Mencarelli MA, Scarano G, della Monica M, Toschi B, Turolla L, Vancini A, Zatterale A, Gabrielli O, Zelante L, Merla G.

Orphanet J Rare Dis. 2011 Jun 9;6:38. doi: 10.1186/1750-1172-6-38.

34.

Clinical variability of genetic isolates of Cohen syndrome.

Douzgou S, Petersen MB.

Clin Genet. 2011 Jun;79(6):501-6. doi: 10.1111/j.1399-0004.2011.01669.x. Epub 2011 Apr 7. Review.

PMID:
21418059
35.

Ophthalmic findings in the Greek isolate of Cohen syndrome.

Douzgou S, Samples JR, Georgoudi N, Petersen MB.

Am J Med Genet A. 2011 Mar;155A(3):534-9. doi: 10.1002/ajmg.a.33797. Epub 2011 Feb 22.

PMID:
21344628
36.

Gingival overgrowth, congenital generalized hypertrichosis, mental retardation and epilepsy: case report and overview.

Douzgou S, Mingarelli R, Dallapiccola B.

Clin Dysmorphol. 2009 Oct;18(4):205-8. doi: 10.1097/MCD.0b013e32832dc393. Review.

PMID:
19625955
37.

Compound heterozygosity for GDF5 in Du Pan type chondrodysplasia.

Douzgou S, Lehmann K, Mingarelli R, Mundlos S, Dallapiccola B.

Am J Med Genet A. 2008 Aug 15;146A(16):2116-21. doi: 10.1002/ajmg.a.32435.

PMID:
18629880
38.

Silver-Russell syndrome following in vitro fertilization.

Douzgou S, Mingarelli R, Tarani L, De Crescenzo A, Riccio A.

Pediatr Dev Pathol. 2008 Jul-Aug;11(4):329-31. doi: 10.2350/08-04-0458.1. No abstract available.

PMID:
18494536
39.

Epistasis between dopamine regulating genes identifies a nonlinear response of the human hippocampus during memory tasks.

Bertolino A, Di Giorgio A, Blasi G, Sambataro F, Caforio G, Sinibaldi L, Latorre V, Rampino A, Taurisano P, Fazio L, Romano R, Douzgou S, Popolizio T, Kolachana B, Nardini M, Weinberger DR, Dallapiccola B.

Biol Psychiatry. 2008 Aug 1;64(3):226-34. doi: 10.1016/j.biopsych.2008.02.001. Epub 2008 Mar 28.

PMID:
18374902
40.

COMT Val158Met polymorphism predicts negative symptoms response to treatment with olanzapine in schizophrenia.

Bertolino A, Caforio G, Blasi G, Rampino A, Nardini M, Weinberger DR, Dallapiccola B, Sinibaldi L, Douzgou S.

Schizophr Res. 2007 Sep;95(1-3):253-5. Epub 2007 Jul 17. No abstract available.

PMID:
17644310
41.

Reassessment of holoprosencephaly-diencephalic hamartoblastoma (HDH) association.

Castori M, Douzgou S, Silvestri E, Encha-Razavi F, Dallapiccola B.

Am J Med Genet A. 2007 Feb 1;143A(3):277-84.

PMID:
17230485
42.

LGI1 gene mutation screening in sporadic partial epilepsy with auditory features.

Flex E, Pizzuti A, Di Bonaventura C, Douzgou S, Egeo G, Fattouch J, Manfredi M, Dallapiccola B, Giallonardo AT.

J Neurol. 2005 Jan;252(1):62-6.

PMID:
15654555
43.

Preliminary data suggest that mutations in the CgRP pathway are not involved in human sporadic cryptorchidism.

Zuccarello D, Morini E, Douzgou S, Ferlin A, Pizzuti A, Salpietro DC, Foresta C, Dallapiccola B.

J Endocrinol Invest. 2004 Sep;27(8):760-4.

PMID:
15636430

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