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Items: 1 to 50 of 123

1.

Complete Sequence of the 22q11.2 Allele in 1,053 Subjects with 22q11.2 Deletion Syndrome Reveals Modifiers of Conotruncal Heart Defects.

Zhao Y, Diacou A, Johnston HR, Musfee FI, McDonald-McGinn DM, McGinn D, Crowley TB, Repetto GM, Swillen A, Breckpot J, Vermeesch JR, Kates WR, Digilio MC, Unolt M, Marino B, Pontillo M, Armando M, Di Fabio F, Vicari S, van den Bree M, Moss H, Owen MJ, Murphy KC, Murphy CM, Murphy D, Schoch K, Shashi V, Tassone F, Simon TJ, Shprintzen RJ, Campbell L, Philip N, Heine-Suñer D, García-Miñaúr S, Fernández L; International 22q11.2 Brain and Behavior Consortium, Bearden CE, Vingerhoets C, van Amelsvoort T, Eliez S, Schneider M, Vorstman JAS, Gothelf D, Zackai E, Agopian AJ, Gur RE, Bassett AS, Emanuel BS, Goldmuntz E, Mitchell LE, Wang T, Morrow BE.

Am J Hum Genet. 2020 Jan 2;106(1):26-40. doi: 10.1016/j.ajhg.2019.11.010. Epub 2019 Dec 20.

PMID:
31870554
2.

Variance of IQ is partially dependent on deletion type among 1,427 22q11.2 deletion syndrome subjects.

Zhao Y, Guo T, Fiksinski A, Breetvelt E, McDonald-McGinn DM, Crowley TB, Diacou A, Schneider M, Eliez S, Swillen A, Breckpot J, Vermeesch J, Chow EWC, Gothelf D, Duijff S, Evers R, van Amelsvoort TA, van den Bree M, Owen M, Niarchou M, Bearden CE, Ornstein C, Pontillo M, Buzzanca A, Vicari S, Armando M, Murphy KC, Murphy C, Garcia-Minaur S, Philip N, Campbell L, Morey-Cañellas J, Raventos J, Rosell J, Heine-Suner D, Shprintzen RJ, Gur RE, Zackai E, Emanuel BS, Wang T, Kates WR, Bassett AS, Vorstman JAS, Morrow BE; International 22q11.2 Brain and Behavior Consortium.

Am J Med Genet A. 2018 Oct;176(10):2172-2181. doi: 10.1002/ajmg.a.40359. Epub 2018 Oct 5.

3.

Catatonia in an adolescent with velo-cardio-facial syndrome.

Faedda GL, Wachtel LE, Higgins AM, Shprintzen RJ.

Am J Med Genet A. 2015 Sep;167A(9):2150-3. doi: 10.1002/ajmg.a.37087. Epub 2015 Apr 1.

PMID:
25832449
4.

Association between autism spectrum disorder in individuals with velocardiofacial (22q11.2 deletion) syndrome and PRODH and COMT genotypes.

Radoeva PD, Coman IL, Salazar CA, Gentile KL, Higgins AM, Middleton FA, Antshel KM, Fremont W, Shprintzen RJ, Morrow BE, Kates WR.

Psychiatr Genet. 2014 Dec;24(6):269-72. doi: 10.1097/YPG.0000000000000062.

5.

Enhanced maternal origin of the 22q11.2 deletion in velocardiofacial and DiGeorge syndromes.

Delio M, Guo T, McDonald-McGinn DM, Zackai E, Herman S, Kaminetzky M, Higgins AM, Coleman K, Chow C, Jalbrzikowski M, Bearden CE, Bailey A, Vangkilde A, Olsen L, Olesen C, Skovby F, Werge TM, Templin L, Busa T, Philip N, Swillen A, Vermeesch JR, Devriendt K, Schneider M, Dahoun S, Eliez S, Schoch K, Hooper SR, Shashi V, Samanich J, Marion R, van Amelsvoort T, Boot E, Klaassen P, Duijff SN, Vorstman J, Yuen T, Silversides C, Chow E, Bassett A, Frisch A, Weizman A, Gothelf D, Niarchou M, van den Bree M, Owen MJ, Suñer DH, Andreo JR, Armando M, Vicari S, Digilio MC, Auton A, Kates WR, Wang T, Shprintzen RJ, Emanuel BS, Morrow BE.

Am J Hum Genet. 2013 Mar 7;92(3):439-47. doi: 10.1016/j.ajhg.2013.01.018. Epub 2013 Feb 28. Erratum in: Am J Hum Genet. 2013 Apr 4;92(4):637. Jarlbrzkowski, Maria [corrected to Jalbrzikowski, Maria].

6.

Genomic disorders on chromosome 22.

Yu S, Graf WD, Shprintzen RJ.

Curr Opin Pediatr. 2012 Dec;24(6):665-71. doi: 10.1097/MOP.0b013e328358acd0. Review.

PMID:
23111679
7.

Atlas-based white matter analysis in individuals with velo-cardio-facial syndrome (22q11.2 deletion syndrome) and unaffected siblings.

Radoeva PD, Coman IL, Antshel KM, Fremont W, McCarthy CS, Kotkar A, Wang D, Shprintzen RJ, Kates WR.

Behav Brain Funct. 2012 Aug 1;8:38. doi: 10.1186/1744-9081-8-38.

8.

Cortical gyrification in velo-cardio-facial (22q11.2 deletion) syndrome: a longitudinal study.

Kunwar A, Ramanathan S, Nelson J, Antshel KM, Fremont W, Higgins AM, Shprintzen RJ, Kates WR.

Schizophr Res. 2012 May;137(1-3):20-5. doi: 10.1016/j.schres.2012.01.032. Epub 2012 Feb 22.

9.

Cleft palate, retrognathia and congenital heart disease in velo-cardio-facial syndrome: a phenotype correlation study.

Friedman MA, Miletta N, Roe C, Wang D, Morrow BE, Kates WR, Higgins AM, Shprintzen RJ.

Int J Pediatr Otorhinolaryngol. 2011 Sep;75(9):1167-72. doi: 10.1016/j.ijporl.2011.06.013. Epub 2011 Jul 18.

10.

Mapping cortical morphology in youth with velocardiofacial (22q11.2 deletion) syndrome.

Kates WR, Bansal R, Fremont W, Antshel KM, Hao X, Higgins AM, Liu J, Shprintzen RJ, Peterson BS.

J Am Acad Child Adolesc Psychiatry. 2011 Mar;50(3):272-282.e2. doi: 10.1016/j.jaac.2010.12.002. Epub 2011 Jan 14.

11.

Neuroanatomic predictors to prodromal psychosis in velocardiofacial syndrome (22q11.2 deletion syndrome): a longitudinal study.

Kates WR, Antshel KM, Faraone SV, Fremont WP, Higgins AM, Shprintzen RJ, Botti JA, Kelchner L, McCarthy C.

Biol Psychiatry. 2011 May 15;69(10):945-52. doi: 10.1016/j.biopsych.2010.10.027. Epub 2010 Dec 31.

12.

Cervical vascular and upper airway asymmetry in Velo-cardio-facial syndrome: correlation of nasopharyngoscopy with MRA.

Oppenheimer AG, Fulmer S, Shifteh K, Chang JK, Brook A, Shanske AL, Shprintzen RJ.

Int J Pediatr Otorhinolaryngol. 2010 Jun;74(6):619-25. doi: 10.1016/j.ijporl.2010.03.006. Epub 2010 Apr 3.

13.

The effects of gender and catechol O-methyltransferase (COMT) Val108/158Met polymorphism on emotion regulation in velo-cardio-facial syndrome (22q11.2 deletion syndrome): An fMRI study.

Coman IL, Gnirke MH, Middleton FA, Antshel KM, Fremont W, Higgins AM, Shprintzen RJ, Kates WR.

Neuroimage. 2010 Nov 15;53(3):1043-50. doi: 10.1016/j.neuroimage.2010.01.094. Epub 2010 Feb 1.

14.

Velo-Cardio-Facial Syndrome.

Gothelf D, Frisch A, Michaelovsky E, Weizman A, Shprintzen RJ.

J Ment Health Res Intellect Disabil. 2009 Apr;2(2):149-167.

15.

Velopharyngeal insufficiency: diagnosis and management.

Shprintzen RJ, Marrinan E.

Curr Opin Otolaryngol Head Neck Surg. 2009 Aug;17(4):302-7. doi: 10.1097/MOO.0b013e32832cbd6b. Review.

16.

Velo-cardio-facial syndrome: 30 Years of study.

Shprintzen RJ.

Dev Disabil Res Rev. 2008;14(1):3-10. doi: 10.1002/ddrr.2. Review.

17.

Comparing phenotypes in patients with idiopathic autism to patients with velocardiofacial syndrome (22q11 DS) with and without autism.

Kates WR, Antshel KM, Fremont WP, Shprintzen RJ, Strunge LA, Burnette CP, Higgins AM.

Am J Med Genet A. 2007 Nov 15;143A(22):2642-50.

PMID:
17937445
18.

Pharyngeal flap and obstructive apnea: maximizing speech outcome while limiting complications.

Chegar BE, Shprintzen RJ, Curtis MS, Tatum SA.

Arch Facial Plast Surg. 2007 Jul-Aug;9(4):252-9.

PMID:
17638759
19.

The neural correlates of non-spatial working memory in velocardiofacial syndrome (22q11.2 deletion syndrome).

Kates WR, Krauss BR, Abdulsabur N, Colgan D, Antshel KM, Higgins AM, Shprintzen RJ.

Neuropsychologia. 2007 Sep 20;45(12):2863-73. Epub 2007 May 24.

20.

22q11.2DS deletion syndrome: developmental milestones in infants and toddlers.

Roizen NJ, Antshel KM, Fremont W, AbdulSabur N, Higgins AM, Shprintzen RJ, Kates WR.

J Dev Behav Pediatr. 2007 Apr;28(2):119-24.

PMID:
17435462
21.

A novel, single nucleotide polymorphism-based assay to detect 22q11 deletions.

Funke BH, Brown AC, Ramoni MF, Regan ME, Baglieri C, Finn CT, Babcock M, Shprintzen RJ, Morrow BE, Kucherlapati R.

Genet Test. 2007 Spring;11(1):91-100.

PMID:
17394398
22.

Autistic spectrum disorders in velo-cardio facial syndrome (22q11.2 deletion).

Antshel KM, Aneja A, Strunge L, Peebles J, Fremont WP, Stallone K, Abdulsabur N, Higgins AM, Shprintzen RJ, Kates WR.

J Autism Dev Disord. 2007 Oct;37(9):1776-86. Epub 2006 Dec 19.

PMID:
17180713
23.

Upper airway asymmetry in velo-cardio-facial syndrome.

Chegar BE, Tatum SA 3rd, Marrinan E, Shprintzen RJ.

Int J Pediatr Otorhinolaryngol. 2006 Aug;70(8):1375-81. Epub 2006 Mar 23.

PMID:
16549218
24.

A gender-moderated effect of a functional COMT polymorphism on prefrontal brain morphology and function in velo-cardio-facial syndrome (22q11.2 deletion syndrome).

Kates WR, Antshel KM, Abdulsabur N, Colgan D, Funke B, Fremont W, Higgins AM, Kucherlapati R, Shprintzen RJ.

Am J Med Genet B Neuropsychiatr Genet. 2006 Apr 5;141B(3):274-80.

25.

Velo-cardio-facial syndrome.

Shprintzen RJ, Higgins AM, Antshel K, Fremont W, Roizen N, Kates W.

Curr Opin Pediatr. 2005 Dec;17(6):725-30. Review.

PMID:
16282778
26.

Velo-cardio-facial syndrome: the pediatric otolaryngologist's perspective.

Butts SC, Tatum SA 3rd, Mortelliti AJ, Shprintzen RJ.

Curr Opin Otolaryngol Head Neck Surg. 2005 Dec;13(6):371-5. Review.

PMID:
16282767
27.

Defining the clinical spectrum of deletion 22q11.2.

Robin NH, Shprintzen RJ.

J Pediatr. 2005 Jul;147(1):90-6. No abstract available.

PMID:
16027702
28.

22q11.2 deletion syndrome: genetics, neuroanatomy and cognitive/behavioral features keywords.

Antshel KM, Kates WR, Roizen N, Fremont W, Shprintzen RJ.

Child Neuropsychol. 2005 Feb;11(1):5-19. Review.

PMID:
15823980
30.

Craniometaphyseal dysplasia: a case report and review of medical and surgical management.

Sheppard WM, Shprintzen RJ, Tatum SA, Woods CI.

Int J Pediatr Otorhinolaryngol. 2003 Jun;67(6):687-93.

PMID:
12745166
31.

Craniometaphyseal dysplasia: a case report and review of medical and surgical management.

Sheppard WM, Shprintzen RJ, Tatum SA, Woods CI.

Int J Pediatr Otorhinolaryngol. 2003 Jan;67(1):71-7. Review. Corrected and republished in: Int J Pediatr Otorhinolaryngol. 2003 Jun;67(6):687-93.

PMID:
12560153
32.

Pharyngeal flap and the internal carotid in velocardiofacial syndrome.

Tatum SA 3rd, Chang J, Havkin N, Shprintzen RJ.

Arch Facial Plast Surg. 2002 Apr-Jun;4(2):73-80.

PMID:
12020200
33.

Velocardiofacial syndrome.

Shprintzen RJ.

Otolaryngol Clin North Am. 2000 Dec;33(6):1217-40, vi. Review.

PMID:
11449784
34.

Velopharyngeal insufficiency and articulation impairment in velo-cardio-facial syndrome: the influence of adenoids on phonemic development.

Havkin N, Tatum SA, Shprintzen RJ.

Int J Pediatr Otorhinolaryngol. 2000 Aug 31;54(2-3):103-10.

PMID:
10967379
35.

Velo-cardio-facial syndrome: a distinctive behavioral phenotype.

Shprintzen RJ.

Ment Retard Dev Disabil Res Rev. 2000;6(2):142-7. Review.

PMID:
10899808
36.

A common molecular basis for rearrangement disorders on chromosome 22q11.

Edelmann L, Pandita RK, Spiteri E, Funke B, Goldberg R, Palanisamy N, Chaganti RS, Magenis E, Shprintzen RJ, Morrow BE.

Hum Mol Genet. 1999 Jul;8(7):1157-67.

PMID:
10369860
37.

Marshall syndrome and a defect at the COL11A1 locus.

Shanske A, Bogdanow A, Shprintzen RJ, Marion RW.

Am J Hum Genet. 1998 Nov;63(5):1558-61. No abstract available.

38.

The heart and the ear.

Robin HN, Shprintzen RJ.

J Pediatr. 1998 Jul;133(1):167-8. No abstract available.

PMID:
9672537
39.

Shprintzen-Goldberg syndrome: a clinical analysis.

Greally MT, Carey JC, Milewicz DM, Hudgins L, Goldberg RB, Shprintzen RJ, Cousineau AJ, Smith WL Jr, Judisch GF, Hanson JW.

Am J Med Genet. 1998 Mar 19;76(3):202-12. Review.

PMID:
9508238
40.

The Marshall syndrome: report of a new family and review of the literature.

Shanske AL, Bogdanow A, Shprintzen RJ, Marion RW.

Am J Med Genet. 1997 May 2;70(1):52-7. Review.

PMID:
9129742
41.

Hemimaxillofacial dysplasia: a report of two new cases and further delineation of the disorder.

Paticoff K, Marion RW, Shprintzen RJ, Shanske AL, Eisig SB.

Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 1997 Apr;83(4):484-8.

PMID:
9127382
42.

Bipolar spectrum disorders in patients diagnosed with velo-cardio-facial syndrome: does a hemizygous deletion of chromosome 22q11 result in bipolar affective disorder?

Papolos DF, Faedda GL, Veit S, Goldberg R, Morrow B, Kucherlapati R, Shprintzen RJ.

Am J Psychiatry. 1996 Dec;153(12):1541-7.

PMID:
8942449
43.

The accuracy of measurements of three-dimensional computed tomography reconstructions.

Covino SW, Mitnick RJ, Shprintzen RJ, Cisneros GJ.

J Oral Maxillofac Surg. 1996 Aug;54(8):982-90; discussion 990-1.

PMID:
8765388
44.

The use of magnetic resonance angiography prior to pharyngeal flap surgery in patients with velocardiofacial syndrome.

Mitnick RJ, Bello JA, Golding-Kushner KJ, Argamaso RV, Shprintzen RJ.

Plast Reconstr Surg. 1996 Apr;97(5):908-19.

PMID:
8618993
45.

Schizophrenia susceptibility associated with interstitial deletions of chromosome 22q11.

Karayiorgou M, Morris MA, Morrow B, Shprintzen RJ, Goldberg R, Borrow J, Gos A, Nestadt G, Wolyniec PS, Lasseter VK, et al.

Proc Natl Acad Sci U S A. 1995 Aug 15;92(17):7612-6.

46.

Velo-cardio-facial syndrome: frequency and extent of 22q11 deletions.

Lindsay EA, Goldberg R, Jurecic V, Morrow B, Carlson C, Kucherlapati RS, Shprintzen RJ, Baldini A.

Am J Med Genet. 1995 Jul 3;57(3):514-22.

PMID:
7677167
47.

Further delineation of brain anomalies in velo-cardio-facial syndrome.

Altman DH, Altman NR, Mitnick RJ, Shprintzen RJ.

Am J Med Genet. 1995 Apr 24;60(2):174-5. No abstract available.

PMID:
7485256
48.

Psychotic illness in patients diagnosed with velo-cardio-facial syndrome and their relatives.

Pulver AE, Nestadt G, Goldberg R, Shprintzen RJ, Lamacz M, Wolyniec PS, Morrow B, Karayiorgou M, Antonarakis SE, Housman D, et al.

J Nerv Ment Dis. 1994 Aug;182(8):476-8. No abstract available.

PMID:
8040660
49.

Treatment of asymmetric velopharyngeal insufficiency with skewed pharyngeal flap.

Argamaso RV, Levandowski GJ, Golding-Kushner KJ, Shprintzen RJ.

Cleft Palate Craniofac J. 1994 Jul;31(4):287-94.

PMID:
7918524
50.

Brain anomalies in velo-cardio-facial syndrome.

Mitnick RJ, Bello JA, Shprintzen RJ.

Am J Med Genet. 1994 Jun 15;54(2):100-6.

PMID:
8074159

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