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Items: 1 to 20 of 168

1.

Reduced dosage of β-catenin provides significant rescue of cardiac outflow tract anomalies in a Tbx1 conditional null mouse model of 22q11.2 deletion syndrome.

Racedo SE, Hasten E, Lin M, Devakanmalai GS, Guo T, Ozbudak EM, Cai CL, Zheng D, Morrow BE.

PLoS Genet. 2017 Mar 27;13(3):e1006687. doi: 10.1371/journal.pgen.1006687. eCollection 2017 Mar.

2.

Genetic Drivers of Kidney Defects in the DiGeorge Syndrome.

Lopez-Rivera E, Liu YP, Verbitsky M, Anderson BR, Capone VP, Otto EA, Yan Z, Mitrotti A, Martino J, Steers NJ, Fasel DA, Vukojevic K, Deng R, Racedo SE, Liu Q, Werth M, Westland R, Vivante A, Makar GS, Bodria M, Sampson MG, Gillies CE, Vega-Warner V, Maiorana M, Petrey DS, Honig B, Lozanovski VJ, Salomon R, Heidet L, Carpentier W, Gaillard D, Carrea A, Gesualdo L, Cusi D, Izzi C, Scolari F, van Wijk JA, Arapovic A, Saraga-Babic M, Saraga M, Kunac N, Samii A, McDonald-McGinn DM, Crowley TB, Zackai EH, Drozdz D, Miklaszewska M, Tkaczyk M, Sikora P, Szczepanska M, Mizerska-Wasiak M, Krzemien G, Szmigielska A, Zaniew M, Darlow JM, Puri P, Barton D, Casolari E, Furth SL, Warady BA, Gucev Z, Hakonarson H, Flogelova H, Tasic V, Latos-Bielenska A, Materna-Kiryluk A, Allegri L, Wong CS, Drummond IA, D'Agati V, Imamoto A, Barasch JM, Hildebrandt F, Kiryluk K, Lifton RP, Morrow BE, Jeanpierre C, Papaioannou VE, Ghiggeri GM, Gharavi AG, Katsanis N, Sanna-Cherchi S.

N Engl J Med. 2017 Feb 23;376(8):742-754. doi: 10.1056/NEJMoa1609009. Epub 2017 Jan 25.

3.

IQ and hemizygosity for the Val158 Met functional polymorphism of COMT in 22q11DS.

Franconi CP, McDonald-McGinn D, Zackai EH, McNamara MA, Salmons H 4th, Moss E, Gur RE, Devoto M, Emanuel BS.

Am J Med Genet B Neuropsychiatr Genet. 2016 Dec;171(8):1112-1115. doi: 10.1002/ajmg.b.32492. Epub 2016 Sep 13.

PMID:
27619075
4.

22q11.2 duplication syndrome: elevated rate of autism spectrum disorder and need for medical screening.

Wenger TL, Miller JS, DePolo LM, de Marchena AB, Clements CC, Emanuel BS, Zackai EH, McDonald-McGinn DM, Schultz RT.

Mol Autism. 2016 May 6;7:27. doi: 10.1186/s13229-016-0090-z. eCollection 2016. Erratum in: Mol Autism. 2016;7:34.

5.

Rare copy number variants and congenital heart defects in the 22q11.2 deletion syndrome.

Mlynarski EE, Xie M, Taylor D, Sheridan MB, Guo T, Racedo SE, McDonald-McGinn DM, Chow EW, Vorstman J, Swillen A, Devriendt K, Breckpot J, Digilio MC, Marino B, Dallapiccola B, Philip N, Simon TJ, Roberts AE, Piotrowicz M, Bearden CE, Eliez S, Gothelf D, Coleman K, Kates WR, Devoto M, Zackai E, Heine-Suñer D, Goldmuntz E, Bassett AS, Morrow BE, Emanuel BS; International Chromosome 22q11.2 Consortium.

Hum Genet. 2016 Mar;135(3):273-85. doi: 10.1007/s00439-015-1623-9. Epub 2016 Jan 7.

6.

Histone Modifier Genes Alter Conotruncal Heart Phenotypes in 22q11.2 Deletion Syndrome.

Guo T, Chung JH, Wang T, McDonald-McGinn DM, Kates WR, Hawuła W, Coleman K, Zackai E, Emanuel BS, Morrow BE.

Am J Hum Genet. 2015 Dec 3;97(6):869-77. doi: 10.1016/j.ajhg.2015.10.013. Epub 2015 Nov 19.

7.

Neural mechanisms of response inhibition and impulsivity in 22q11.2 deletion carriers and idiopathic attention deficit hyperactivity disorder.

Montojo CA, Congdon E, Hwang L, Jalbrzikowski M, Kushan L, Vesagas TK, Jonas RK, Ventura J, Bilder RM, Bearden CE.

Neuroimage Clin. 2015 Aug 20;9:310-21. doi: 10.1016/j.nicl.2015.08.006. eCollection 2015.

8.

CHD associated with syndromic diagnoses: peri-operative risk factors and early outcomes.

Landis BJ, Cooper DS, Hinton RB.

Cardiol Young. 2016 Jan;26(1):30-52. doi: 10.1017/S1047951115001389. Epub 2015 Sep 8. Review.

9.

Mitochondrial Citrate Transporter-dependent Metabolic Signature in the 22q11.2 Deletion Syndrome.

Napoli E, Tassone F, Wong S, Angkustsiri K, Simon TJ, Song G, Giulivi C.

J Biol Chem. 2015 Sep 18;290(38):23240-53. doi: 10.1074/jbc.M115.672360. Epub 2015 Jul 28.

10.

Transcriptome Profiling of Peripheral Blood in 22q11.2 Deletion Syndrome Reveals Functional Pathways Related to Psychosis and Autism Spectrum Disorder.

Jalbrzikowski M, Lazaro MT, Gao F, Huang A, Chow C, Geschwind DH, Coppola G, Bearden CE.

PLoS One. 2015 Jul 22;10(7):e0132542. doi: 10.1371/journal.pone.0132542. eCollection 2015.

11.

Whole-Genome Sequencing and Integrative Genomic Analysis Approach on Two 22q11.2 Deletion Syndrome Family Trios for Genotype to Phenotype Correlations.

Chung JH, Cai J, Suskin BG, Zhang Z, Coleman K, Morrow BE.

Hum Mutat. 2015 Aug;36(8):797-807. doi: 10.1002/humu.22814. Epub 2015 Jul 2.

12.

Copy-Number Variation of the Glucose Transporter Gene SLC2A3 and Congenital Heart Defects in the 22q11.2 Deletion Syndrome.

Mlynarski EE, Sheridan MB, Xie M, Guo T, Racedo SE, McDonald-McGinn DM, Gai X, Chow EW, Vorstman J, Swillen A, Devriendt K, Breckpot J, Digilio MC, Marino B, Dallapiccola B, Philip N, Simon TJ, Roberts AE, Piotrowicz M, Bearden CE, Eliez S, Gothelf D, Coleman K, Kates WR, Devoto M, Zackai E, Heine-Suñer D, Shaikh TH, Bassett AS, Goldmuntz E, Morrow BE, Emanuel BS; International Chromosome 22q11.2 Consortium.

Am J Hum Genet. 2015 May 7;96(5):753-64. doi: 10.1016/j.ajhg.2015.03.007. Epub 2015 Apr 16.

13.

Modeling a model: Mouse genetics, 22q11.2 Deletion Syndrome, and disorders of cortical circuit development.

Meechan DW, Maynard TM, Tucker ES, Fernandez A, Karpinski BA, Rothblat LA, LaMantia AS.

Prog Neurobiol. 2015 Jul;130:1-28. doi: 10.1016/j.pneurobio.2015.03.004. Epub 2015 Apr 9. Review.

14.

Disrupted fornix integrity in children with chromosome 22q11.2 deletion syndrome.

Deng Y, Goodrich-Hunsaker NJ, Cabaral M, Amaral DG, Buonocore MH, Harvey D, Kalish K, Carmichael OT, Schumann CM, Lee A, Dougherty RF, Perry LM, Wandell BA, Simon TJ.

Psychiatry Res. 2015 Apr 30;232(1):106-14. doi: 10.1016/j.pscychresns.2015.02.002. Epub 2015 Feb 11.

15.

Cognitive decline preceding the onset of psychosis in patients with 22q11.2 deletion syndrome.

Vorstman JA, Breetvelt EJ, Duijff SN, Eliez S, Schneider M, Jalbrzikowski M, Armando M, Vicari S, Shashi V, Hooper SR, Chow EW, Fung WL, Butcher NJ, Young DA, McDonald-McGinn DM, Vogels A, van Amelsvoort T, Gothelf D, Weinberger R, Weizman A, Klaassen PW, Koops S, Kates WR, Antshel KM, Simon TJ, Ousley OY, Swillen A, Gur RE, Bearden CE, Kahn RS, Bassett AS; International Consortium on Brain and Behavior in 22q11.2 Deletion Syndrome.

JAMA Psychiatry. 2015 Apr;72(4):377-85. doi: 10.1001/jamapsychiatry.2014.2671.

16.

Maternal cell-free DNA-based screening for fetal microdeletion and the importance of careful diagnostic follow-up.

Yatsenko SA, Peters DG, Saller DN, Chu T, Clemens M, Rajkovic A.

Genet Med. 2015 Oct;17(10):836-8. doi: 10.1038/gim.2014.197. Epub 2015 Jan 8.

17.

22q11.2 deletion syndrome.

McDonald-McGinn DM, Sullivan KE, Marino B, Philip N, Swillen A, Vorstman JA, Zackai EH, Emanuel BS, Vermeesch JR, Morrow BE, Scambler PJ, Bassett AS.

Nat Rev Dis Primers. 2015 Nov 19;1:15071. doi: 10.1038/nrdp.2015.71. Review.

18.

Ranbp1, Deleted in DiGeorge/22q11.2 Deletion Syndrome, is a Microcephaly Gene That Selectively Disrupts Layer 2/3 Cortical Projection Neuron Generation.

Paronett EM, Meechan DW, Karpinski BA, LaMantia AS, Maynard TM.

Cereb Cortex. 2015 Oct;25(10):3977-93. doi: 10.1093/cercor/bhu285. Epub 2014 Dec 1.

19.

Mapping the deletion endpoints in individuals with 22q11.2 deletion syndrome by droplet digital PCR.

Hwang VJ, Maar D, Regan J, Angkustsiri K, Simon TJ, Tassone F.

BMC Med Genet. 2014 Oct 14;15:106. doi: 10.1186/s12881-014-0106-5.

20.

Decreased DGCR8 expression and miRNA dysregulation in individuals with 22q11.2 deletion syndrome.

Sellier C, Hwang VJ, Dandekar R, Durbin-Johnson B, Charlet-Berguerand N, Ander BP, Sharp FR, Angkustsiri K, Simon TJ, Tassone F.

PLoS One. 2014 Aug 1;9(8):e103884. doi: 10.1371/journal.pone.0103884. eCollection 2014.

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