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Items: 1 to 50 of 93

1.

Potential molecular consequences of transgene integration: The R6/2 mouse example.

Jacobsen JC, Erdin S, Chiang C, Hanscom C, Handley RR, Barker DD, Stortchevoi A, Blumenthal I, Reid SJ, Snell RG, MacDonald ME, Morton AJ, Ernst C, Gusella JF, Talkowski ME.

Sci Rep. 2017 Jan 25;7:41120. doi: 10.1038/srep41120.

2.

The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies.

Redin C, Brand H, Collins RL, Kammin T, Mitchell E, Hodge JC, Hanscom C, Pillalamarri V, Seabra CM, Abbott MA, Abdul-Rahman OA, Aberg E, Adley R, Alcaraz-Estrada SL, Alkuraya FS, An Y, Anderson MA, Antolik C, Anyane-Yeboa K, Atkin JF, Bartell T, Bernstein JA, Beyer E, Blumenthal I, Bongers EM, Brilstra EH, Brown CW, Brüggenwirth HT, Callewaert B, Chiang C, Corning K, Cox H, Cuppen E, Currall BB, Cushing T, David D, Deardorff MA, Dheedene A, D'Hooghe M, de Vries BB, Earl DL, Ferguson HL, Fisher H, FitzPatrick DR, Gerrol P, Giachino D, Glessner JT, Gliem T, Grady M, Graham BH, Griffis C, Gripp KW, Gropman AL, Hanson-Kahn A, Harris DJ, Hayden MA, Hill R, Hochstenbach R, Hoffman JD, Hopkin RJ, Hubshman MW, Innes AM, Irons M, Irving M, Jacobsen JC, Janssens S, Jewett T, Johnson JP, Jongmans MC, Kahler SG, Koolen DA, Korzelius J, Kroisel PM, Lacassie Y, Lawless W, Lemyre E, Leppig K, Levin AV, Li H, Li H, Liao EC, Lim C, Lose EJ, Lucente D, Macera MJ, Manavalan P, Mandrile G, Marcelis CL, Margolin L, Mason T, Masser-Frye D, McClellan MW, Mendoza CJ, Menten B, Middelkamp S, Mikami LR, Moe E, Mohammed S, Mononen T, Mortenson ME, Moya G, Nieuwint AW, Ordulu Z, Parkash S, Pauker SP, Pereira S, Perrin D, Phelan K, Aguilar RE, Poddighe PJ, Pregno G, Raskin S, Reis L, Rhead W, Rita D, Renkens I, Roelens F, Ruliera J, Rump P, Schilit SL, Shaheen R, Sparkes R, Spiegel E, Stevens B, Stone MR, Tagoe J, Thakuria JV, van Bon BW, van de Kamp J, van Der Burgt I, van Essen T, van Ravenswaaij-Arts CM, van Roosmalen MJ, Vergult S, Volker-Touw CM, Warburton DP, Waterman MJ, Wiley S, Wilson A, Yerena-de Vega MC, Zori RT, Levy B, Brunner HG, de Leeuw N, Kloosterman WP, Thorland EC, Morton CC, Gusella JF, Talkowski ME.

Nat Genet. 2017 Jan;49(1):36-45. doi: 10.1038/ng.3720. Epub 2016 Nov 14.

3.

Implication of LRRC4C and DPP6 in neurodevelopmental disorders.

Maussion G, Cruceanu C, Rosenfeld JA, Bell SC, Jollant F, Szatkiewicz J, Collins RL, Hanscom C, Kolobova I, de Champfleur NM, Blumenthal I, Chiang C, Ota V, Hultman C, O'Dushlaine C, McCarroll S, Alda M, Jacquemont S, Ordulu Z, Marshall CR, Carter MT, Shaffer LG, Sklar P, Girirajan S, Morton CC, Gusella JF, Turecki G, Stavropoulos DJ, Sullivan PF, Scherer SW, Talkowski ME, Ernst C.

Am J Med Genet A. 2017 Feb;173(2):395-406. doi: 10.1002/ajmg.a.38021. Epub 2016 Oct 19.

4.

Structural Chromosomal Rearrangements Require Nucleotide-Level Resolution: Lessons from Next-Generation Sequencing in Prenatal Diagnosis.

Ordulu Z, Kammin T, Brand H, Pillalamarri V, Redin CE, Collins RL, Blumenthal I, Hanscom C, Pereira S, Bradley I, Crandall BF, Gerrol P, Hayden MA, Hussain N, Kanengisser-Pines B, Kantarci S, Levy B, Macera MJ, Quintero-Rivera F, Spiegel E, Stevens B, Ulm JE, Warburton D, Wilkins-Haug LE, Yachelevich N, Gusella JF, Talkowski ME, Morton CC.

Am J Hum Genet. 2016 Nov 3;99(5):1015-1033. doi: 10.1016/j.ajhg.2016.08.022. Epub 2016 Oct 13.

5.

Mutated Huntingtin Causes Testicular Pathology in Transgenic Minipig Boars.

Macakova M, Bohuslavova B, Vochozkova P, Pavlok A, Sedlackova M, Vidinska D, Vochyanova K, Liskova I, Valekova I, Baxa M, Ellederova Z, Klima J, Juhas S, Juhasova J, Klouckova J, Haluzik M, Klempir J, Hansikova H, Spacilova J, Collins R, Blumenthal I, Talkowski M, Gusella JF, Howland DS, DiFiglia M, Motlik J.

Neurodegener Dis. 2016;16(3-4):245-59. doi: 10.1159/000443665. Epub 2016 Mar 10.

PMID:
26959244
6.

Engineering microdeletions and microduplications by targeting segmental duplications with CRISPR.

Tai DJ, Ragavendran A, Manavalan P, Stortchevoi A, Seabra CM, Erdin S, Collins RL, Blumenthal I, Chen X, Shen Y, Sahin M, Zhang C, Lee C, Gusella JF, Talkowski ME.

Nat Neurosci. 2016 Mar;19(3):517-22. doi: 10.1038/nn.4235. Epub 2016 Feb 1.

7.

A Potential Contributory Role for Ciliary Dysfunction in the 16p11.2 600 kb BP4-BP5 Pathology.

Migliavacca E, Golzio C, Männik K, Blumenthal I, Oh EC, Harewood L, Kosmicki JA, Loviglio MN, Giannuzzi G, Hippolyte L, Maillard AM, Alfaiz AA; 16p11.2 European Consortium, van Haelst MM, Andrieux J, Gusella JF, Daly MJ, Beckmann JS, Jacquemont S, Talkowski ME, Katsanis N, Reymond A.

Am J Hum Genet. 2015 May 7;96(5):784-96. doi: 10.1016/j.ajhg.2015.04.002. Epub 2015 Apr 30.

8.

BRF1 mutations alter RNA polymerase III-dependent transcription and cause neurodevelopmental anomalies.

Borck G, Hög F, Dentici ML, Tan PL, Sowada N, Medeira A, Gueneau L, Holger T, Kousi M, Lepri F, Wenzeck L, Blumenthal I, Radicioni A, Schwarzenberg TL, Mandriani B, Fischetto R, Morris-Rosendahl DJ, Altmüller J, Reymond A, Nünberg P, Merla G, Dallapiccola B, Katsanis N, Cramer P, Kubisch C.

Genome Res. 2015 Apr;25(4):609. No abstract available.

9.

BRF1 mutations alter RNA polymerase III-dependent transcription and cause neurodevelopmental anomalies.

Borck G, Hög F, Dentici ML, Tan PL, Sowada N, Medeira A, Gueneau L, Thiele H, Kousi M, Lepri F, Wenzeck L, Blumenthal I, Radicioni A, Schwarzenberg TL, Mandriani B, Fischetto R, Morris-Rosendahl DJ, Altmüller J, Reymond A, Nürnberg P, Merla G, Dallapiccola B, Katsanis N, Cramer P, Kubisch C.

Genome Res. 2015 Feb;25(2):155-66. doi: 10.1101/gr.176925.114. Epub 2015 Jan 5. Erratum in: Genome Res. 2015 Apr;25(4):609.

10.

CHD8 regulates neurodevelopmental pathways associated with autism spectrum disorder in neural progenitors.

Sugathan A, Biagioli M, Golzio C, Erdin S, Blumenthal I, Manavalan P, Ragavendran A, Brand H, Lucente D, Miles J, Sheridan SD, Stortchevoi A, Kellis M, Haggarty SJ, Katsanis N, Gusella JF, Talkowski ME.

Proc Natl Acad Sci U S A. 2014 Oct 21;111(42):E4468-77. doi: 10.1073/pnas.1405266111. Epub 2014 Oct 7.

11.

Transcriptional consequences of 16p11.2 deletion and duplication in mouse cortex and multiplex autism families.

Blumenthal I, Ragavendran A, Erdin S, Klei L, Sugathan A, Guide JR, Manavalan P, Zhou JQ, Wheeler VC, Levin JZ, Ernst C, Roeder K, Devlin B, Gusella JF, Talkowski ME.

Am J Hum Genet. 2014 Jun 5;94(6):870-83. doi: 10.1016/j.ajhg.2014.05.004.

12.

Molecular analysis of a deletion hotspot in the NRXN1 region reveals the involvement of short inverted repeats in deletion CNVs.

Chen X, Shen Y, Zhang F, Chiang C, Pillalamarri V, Blumenthal I, Talkowski M, Wu BL, Gusella JF.

Am J Hum Genet. 2013 Mar 7;92(3):375-86. doi: 10.1016/j.ajhg.2013.02.006.

13.

Haploinsufficiency of KDM6A is associated with severe psychomotor retardation, global growth restriction, seizures and cleft palate.

Lindgren AM, Hoyos T, Talkowski ME, Hanscom C, Blumenthal I, Chiang C, Ernst C, Pereira S, Ordulu Z, Clericuzio C, Drautz JM, Rosenfeld JA, Shaffer LG, Velsher L, Pynn T, Vermeesch J, Harris DJ, Gusella JF, Liao EC, Morton CC.

Hum Genet. 2013 May;132(5):537-52. doi: 10.1007/s00439-013-1263-x. Epub 2013 Jan 25.

14.

Disruption of a large intergenic noncoding RNA in subjects with neurodevelopmental disabilities.

Talkowski ME, Maussion G, Crapper L, Rosenfeld JA, Blumenthal I, Hanscom C, Chiang C, Lindgren A, Pereira S, Ruderfer D, Diallo AB, Lopez JP, Turecki G, Chen ES, Gigek C, Harris DJ, Lip V, An Y, Biagioli M, Macdonald ME, Lin M, Haggarty SJ, Sklar P, Purcell S, Kellis M, Schwartz S, Shaffer LG, Natowicz MR, Shen Y, Morton CC, Gusella JF, Ernst C.

Am J Hum Genet. 2012 Dec 7;91(6):1128-34. doi: 10.1016/j.ajhg.2012.10.016.

15.

Clinical diagnosis by whole-genome sequencing of a prenatal sample.

Talkowski ME, Ordulu Z, Pillalamarri V, Benson CB, Blumenthal I, Connolly S, Hanscom C, Hussain N, Pereira S, Picker J, Rosenfeld JA, Shaffer LG, Wilkins-Haug LE, Gusella JF, Morton CC.

N Engl J Med. 2012 Dec 6;367(23):2226-32. doi: 10.1056/NEJMoa1208594.

16.

Highly penetrant alterations of a critical region including BDNF in human psychopathology and obesity.

Ernst C, Marshall CR, Shen Y, Metcalfe K, Rosenfeld J, Hodge JC, Torres A, Blumenthal I, Chiang C, Pillalamarri V, Crapper L, Diallo AB, Ruderfer D, Pereira S, Sklar P, Purcell S, Wildin RS, Spencer AC, Quade BF, Harris DJ, Lemyre E, Wu BL, Stavropoulos DJ, Geraghty MT, Shaffer LG, Morton CC, Scherer SW, Gusella JF, Talkowski ME.

Arch Gen Psychiatry. 2012 Dec;69(12):1238-46. doi: 10.1001/archgenpsychiatry.2012.660.

17.

Sequencing chromosomal abnormalities reveals neurodevelopmental loci that confer risk across diagnostic boundaries.

Talkowski ME, Rosenfeld JA, Blumenthal I, Pillalamarri V, Chiang C, Heilbut A, Ernst C, Hanscom C, Rossin E, Lindgren AM, Pereira S, Ruderfer D, Kirby A, Ripke S, Harris DJ, Lee JH, Ha K, Kim HG, Solomon BD, Gropman AL, Lucente D, Sims K, Ohsumi TK, Borowsky ML, Loranger S, Quade B, Lage K, Miles J, Wu BL, Shen Y, Neale B, Shaffer LG, Daly MJ, Morton CC, Gusella JF.

Cell. 2012 Apr 27;149(3):525-37. doi: 10.1016/j.cell.2012.03.028. Epub 2012 Apr 19.

18.

Complex reorganization and predominant non-homologous repair following chromosomal breakage in karyotypically balanced germline rearrangements and transgenic integration.

Chiang C, Jacobsen JC, Ernst C, Hanscom C, Heilbut A, Blumenthal I, Mills RE, Kirby A, Lindgren AM, Rudiger SR, McLaughlan CJ, Bawden CS, Reid SJ, Faull RL, Snell RG, Hall IM, Shen Y, Ohsumi TK, Borowsky ML, Daly MJ, Lee C, Morton CC, MacDonald ME, Gusella JF, Talkowski ME.

Nat Genet. 2012 Mar 4;44(4):390-7, S1. doi: 10.1038/ng.2202.

19.

Haploinsufficiency of SOX5 at 12p12.1 is associated with developmental delays with prominent language delay, behavior problems, and mild dysmorphic features.

Lamb AN, Rosenfeld JA, Neill NJ, Talkowski ME, Blumenthal I, Girirajan S, Keelean-Fuller D, Fan Z, Pouncey J, Stevens C, Mackay-Loder L, Terespolsky D, Bader PI, Rosenbaum K, Vallee SE, Moeschler JB, Ladda R, Sell S, Martin J, Ryan S, Jones MC, Moran R, Shealy A, Madan-Khetarpal S, McConnell J, Surti U, Delahaye A, Heron-Longe B, Pipiras E, Benzacken B, Passemard S, Verloes A, Isidor B, Le Caignec C, Glew GM, Opheim KE, Descartes M, Eichler EE, Morton CC, Gusella JF, Schultz RA, Ballif BC, Shaffer LG.

Hum Mutat. 2012 Apr;33(4):728-40. doi: 10.1002/humu.22037.

20.

Type 1 T helper cells induce the accumulation of myeloid-derived suppressor cells in the inflamed Tgfb1 knockout mouse liver.

Cripps JG, Wang J, Maria A, Blumenthal I, Gorham JD.

Hepatology. 2010 Oct;52(4):1350-9. doi: 10.1002/hep.23841.

21.

Hyperlipidaemia due to carnitine palmitoyltransferase I deficiency.

Worthington H, Olpin SE, Blumenthal I, Morris AA.

J Inherit Metab Dis. 2007 Feb;30(1):104. Epub 2006 Dec 11.

PMID:
17160614
22.

Vesicoureteric reflux and urinary tract infection in children.

Blumenthal I.

Postgrad Med J. 2006 Jan;82(963):31-5. Review.

23.

Vesicoureteric reflux in children--where next?

Blumenthal I.

Lancet. 2005 Feb 12-18;365(9459):570-1. No abstract available.

PMID:
15708095
24.

Periventricular leucomalacia: a review.

Blumenthal I.

Eur J Pediatr. 2004 Aug;163(8):435-42. Epub 2004 Jun 4. Review.

PMID:
15179510
25.

Shaken baby syndrome.

Blumenthal I.

Postgrad Med J. 2002 Dec;78(926):732-5. Review.

26.

Cerebral palsy--medicolegal aspects.

Blumenthal I.

J R Soc Med. 2001 Dec;94(12):624-7. Review. No abstract available.

27.

The development of the clinical thermometer.

Blumenthal I.

Proc R Coll Physicians Edinb. 1998 Jan;28(1):67-72. No abstract available.

PMID:
11619855
28.

Carbon monoxide poisoning.

Blumenthal I.

J R Soc Med. 2001 Jun;94(6):270-2. Review. No abstract available.

29.

Skull fracture--child abuse or an accident?

Blumenthal I.

Lancet. 2000 Jul 15;356(9225):258. No abstract available.

PMID:
10963234
30.

The gripe water story.

Blumenthal I.

J R Soc Med. 2000 Apr;93(4):172-4. No abstract available.

31.

A neonatal hypothermia indicator.

Morley D, Blumenthal I.

Lancet. 2000 Feb 19;355(9204):659-60. No abstract available.

PMID:
10697014
32.

What parents think of fever.

Blumenthal I.

Fam Pract. 1998 Dec;15(6):513-8.

PMID:
10078789
33.

Use of sucrose as a treatment for infantile colic.

Blumenthal I.

Arch Dis Child. 1997 Oct;77(4):370. No abstract available.

34.

Screening babies for vesicoureteric reflux.

Blumenthal I.

Lancet. 1997 Oct 4;350(9083):1030. No abstract available.

PMID:
9329534
35.

Fever--concepts old and new.

Blumenthal I.

J R Soc Med. 1997 Jul;90(7):391-4. No abstract available.

36.

Modern electronic and chemical thermometers used in the axilla are inaccurate.

Zengeya ST, Blumenthal I.

Eur J Pediatr. 1996 Dec;155(12):1005-8.

PMID:
8956933
37.

Child sexual abuse--have we learned the lessons of Cleveland?

Blumenthal I.

Arch Dis Child. 1996 Jul;75(1):88-9. No abstract available.

38.

Osteogenesis imperfecta, non-accidental injury, and temporary brittle bone disease.

Blumenthal I.

Arch Dis Child. 1996 Jan;74(1):91. No abstract available.

39.

Vesico-ureteric reflux, urinary-tract infection, and renal damage in children.

Blumenthal I.

Lancet. 1995 Sep 30;346(8979):900. No abstract available.

PMID:
7564686
40.

Should we ban the mercury thermometer? Discussion paper.

Blumenthal I.

J R Soc Med. 1992 Sep;85(9):553-5. No abstract available.

41.

The incidence of renal calcification in preterm infants.

Blumenthal I.

Arch Dis Child. 1991 Sep;66(9):1102. No abstract available.

42.

Which thermometer?

Blumenthal I.

Lancet. 1991 Jun 15;337(8755):1483. No abstract available.

PMID:
1675349
43.

Medical aspects of child sexual abuse.

Blumenthal I.

Br J Hosp Med. 1991 Jun;45(6):364-7.

PMID:
2070166
44.

Reflux vomiting.

Blumenthal I.

Arch Dis Child. 1991 Jan;66(1):172. No abstract available.

45.

Brittle or battered?

Blumenthal I.

Arch Dis Child. 1989 Jan;64(1):176-7. No abstract available.

46.

Rectal or axillary temperature in the young child?

Blumenthal I.

Practitioner. 1985 Oct;229(1408):851. No abstract available.

PMID:
4059162
47.

Ceftazidime in neonatal infections.

Blumenthal I.

Arch Dis Child. 1985 Aug;60(8):785. No abstract available.

48.

Plasma terbutaline levels in asthma.

Blumenthal I.

Arch Dis Child. 1983 Aug;58(8):663. No abstract available.

49.

Effects of oral theophylline and oral salbutamol in the treatment of asthma.

Blumenthal I.

Arch Dis Child. 1983 Jan;58(1):78-9. No abstract available.

50.

Effect of posture on gastro-oesophageal reflux in the newborn.

Blumenthal I, Lealman GT.

Arch Dis Child. 1982 Jul;57(7):555-6.

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