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Items: 1 to 20 of 119

1.

Refinement of the 8q22.1 microdeletion critical region associated with Nablus mask-like facial syndrome.

Overhoff J, Rabideau MM, Bird LM, Schweitzer DN, Haynes K, Schultz RA, Shaffer LG, Rosenfeld JA, Ellison JW.

Am J Med Genet A. 2014 Jan;164A(1):259-63. doi: 10.1002/ajmg.a.36163. Epub 2013 Nov 20. No abstract available.

PMID:
24259484
2.

A new case of 8q22.1 microdeletion restricts the critical region for Nablus mask-like facial syndrome.

Debost-Legrand A, Eymard-Pierre E, Pebrel-Richard C, Gouas L, Goumy C, Giollant M, Ayed W, Tchirkov A, Francannet C, Vago P.

Am J Med Genet A. 2013 Jan;161A(1):162-5. doi: 10.1002/ajmg.a.35614. Epub 2012 Dec 13.

PMID:
23239647
3.

Deletion of chromosome 8q22.1, a critical region for Nablus mask-like facial syndrome: four additional cases support a role of genetic modifiers in the manifestation of the phenotype.

Jamuar SS, Duzkale H, Duzkale N, Zhang C, High FA, Kaban L, Bhattacharya S, Crandall B, Kantarci S, Stoler JM, Lin AE.

Am J Med Genet A. 2015 Jun;167(6):1400-5. doi: 10.1002/ajmg.a.36848. Epub 2015 Apr 2. No abstract available.

PMID:
25846266
4.

Nablus mask-like facial syndrome: deletion of chromosome 8q22.1 is necessary but not sufficient to cause the phenotype.

Allanson J, Smith A, Hare H, Albrecht B, Bijlsma E, Dallapiccola B, Donti E, Fitzpatrick D, Isidor B, Lachlan K, Le Caignec C, Prontera P, Raas-Rothschild A, Rogaia D, van Bon B, Aradhya S, Crocker SF, Jarinova O, McGowan-Jordan J, Boycott K, Bulman D, Fagerberg CR.

Am J Med Genet A. 2012 Sep;158A(9):2091-9. doi: 10.1002/ajmg.a.35446. Epub 2012 Jul 20.

PMID:
22821852
5.

Nablus mask-like facial syndrome is caused by a microdeletion of 8q detected by array-based comparative genomic hybridization.

Shieh JT, Aradhya S, Novelli A, Manning MA, Cherry AM, Brumblay J, Salpietro CD, Bernardini L, Dallapiccola B, Hoyme HE.

Am J Med Genet A. 2006 Jun 15;140(12):1267-73.

PMID:
16691576
6.

Phenotypic overlap between Blepharo-naso-facial syndrome and Nablus mask-like syndrome. Report from the first Indian family.

Sachdev M, Rastogi A, Singh A, Kumar K, Kapoor S, Bansal Y, Goel S.

Ophthalmic Genet. 2013 Mar-Jun;34(1-2):65-8. doi: 10.3109/13816810.2012.695423. Epub 2012 Jun 14.

PMID:
22697357
7.

A 2.84 Mb deletion at 21q22.11 in a patient clinically diagnosed with Marden-Walker syndrome.

Carrascosa-Romero MC, Suela J, Pardal-Fernández JM, Bermejo-Sánchez E, Vidal-Company A, MacDonald A, Tébar-Gil R, Martínez-Fernández ML, Martínez-Frías ML.

Am J Med Genet A. 2013 Sep;161A(9):2281-90. doi: 10.1002/ajmg.a.35862. Epub 2013 Jul 25.

PMID:
23894067
8.

An intragenic deletion of the NFIA gene in a patient with a hypoplastic corpus callosum, craniofacial abnormalities and urinary tract defects.

Rao A, O'Donnell S, Bain N, Meldrum C, Shorter D, Goel H.

Eur J Med Genet. 2014 Feb;57(2-3):65-70. doi: 10.1016/j.ejmg.2013.12.011. Epub 2014 Jan 22.

PMID:
24462883
9.

Five patients with novel overlapping interstitial deletions in 8q22.2q22.3.

Kuechler A, Buysse K, Clayton-Smith J, Le Caignec C, David A, Engels H, Kohlhase J, Mari F, Mortier G, Renieri A, Wieczorek D.

Am J Med Genet A. 2011 Aug;155A(8):1857-64. doi: 10.1002/ajmg.a.34072. Epub 2011 Jul 7.

PMID:
21739578
10.

Mosaic supernumerary r(8) syndrome.

Yilmaz S, Tarkan-Argüden Y, Kuru D, Deviren A, Karaman B, Yüksel A, Hacihanefioğlu S.

Genet Couns. 2005;16(2):187-90. No abstract available.

PMID:
16080301
11.

A case of 8q22.1 microdeletion without the Nablus mask-like facial syndrome phenotype.

Jain S, Yang P, Farrell SA.

Eur J Med Genet. 2010 Mar-Apr;53(2):108-10. doi: 10.1016/j.ejmg.2009.12.006. Epub 2010 Jan 14.

PMID:
20074678
12.

Phenotypes of 8q13.2-q13.3 microdeletion: Case report and literature review of an emerging recurrent microdeletion syndrome.

Hamilton MJ, Sarkar A, Dixit A, Marder E.

Am J Med Genet A. 2016 Mar;170(3):804-8. doi: 10.1002/ajmg.a.37497. Epub 2015 Dec 10. Review. No abstract available.

PMID:
26663483
13.

Cryptic 7q36.2q36.3 deletion causes multiple congenital eye anomalies and craniofacial dysmorphism.

Beleza-Meireles A, Matoso E, Ramos L, Melo JB, Carreira IM, Silva ED, Saraiva JM.

Am J Med Genet A. 2013 Mar;161A(3):589-93. doi: 10.1002/ajmg.a.35713. Epub 2013 Feb 7.

PMID:
23401163
14.

Brain malformations in a patient with deletion 2p16.1: A refinement of the phenotype to BCL11A.

Balci TB, Sawyer SL, Davila J, Humphreys P, Dyment DA.

Eur J Med Genet. 2015 Jun-Jul;58(6-7):351-4. doi: 10.1016/j.ejmg.2015.04.006. Epub 2015 May 13.

PMID:
25979662
15.

Parental origin of the deletion 22q11.2 and brain development in velocardiofacial syndrome: a preliminary study.

Eliez S, Antonarakis SE, Morris MA, Dahoun SP, Reiss AL.

Arch Gen Psychiatry. 2001 Jan;58(1):64-8.

PMID:
11146759
16.

The acrofacial dysostoses--a wide spectrum of overlapping phenotypes.

Dimitrov B, Balikova I, Bradinova I, Zahariev D, Popova A, Simeonov E, De Smet L, Devriendt K, Fryns JP.

Genet Couns. 2005;16(2):181-6. No abstract available.

PMID:
16080300
17.

Partial deletion of chromosome 12q is not usually associated with CFC syndrome.

Zollino M, Neri G.

Am J Med Genet. 2000 Nov 27;95(3):296. No abstract available.

PMID:
11102944
18.

Clinical and molecular characterization of the 20q11.2 microdeletion syndrome: six new patients.

Jedraszak G, Demeer B, Mathieu-Dramard M, Andrieux J, Receveur A, Weber A, Maye U, Foulds N, Temple IK, Crolla J, Alex-Cordier MP, Sanlaville D, Ewans L, Wilson M, Armstrong R, Clarkson A, Copin H, Morin G.

Am J Med Genet A. 2015 Mar;167A(3):504-11. doi: 10.1002/ajmg.a.36882. Epub 2015 Jan 8. Review.

PMID:
25572454
19.

Toriello-Carey syndrome and unbalanced translocation t(8;18)(p12;q22).

Martin-Denavit T, Till M, Plauchu H.

Am J Med Genet A. 2004 Jul 15;128A(2):219-21. No abstract available.

PMID:
15214022
20.

Terminal 2q37 deletion and autistic behaviour.

Lukusa T, Smeets E, Vogels A, Vermeesch JR, Fryns JP.

Genet Couns. 2005;16(2):179-80. No abstract available.

PMID:
16080299

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