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Items: 1 to 20 of 200

1.

Van den Ende-Gupta syndrome: laryngeal abnormalities in two siblings.

Carr CW, Carron JD, Lachman RS, Abdul-Rahman OA.

Am J Med Genet A. 2007 Nov 15;143A(22):2706-11.

PMID:
17937442
2.

van den Ende-Gupta syndrome of blepharophimosis, arachnodactyly, and congenital contractures: clinical delineation and recurrence in brothers.

Schweitzer DN, Lachman RS, Pressman BD, Graham JM Jr.

Am J Med Genet A. 2003 Apr 30;118A(3):267-73.

PMID:
12673658
3.

van den Ende-Gupta syndrome of blepharophimosis, arachnodactyly, and congenital contractures.

Guerra D, Sanchez O, Richieri-Costa A.

Am J Med Genet A. 2005 Aug 1;136A(4):377-80. Review.

PMID:
15971261
4.

Sclerocornea in a patient with van den Ende-Gupta syndrome homozygous for a SCARF2 microdeletion.

Migliavacca MP, Sobreira NL, Antonialli GP, Oliveira MM, Melaragno MI, Casteels I, de Ravel T, Brunoni D, Valle D, Perez AB.

Am J Med Genet A. 2014 May;164A(5):1170-4. doi: 10.1002/ajmg.a.36425.

5.

Unmasking of a Recessive SCARF2 Mutation by a 22q11.12 de novo Deletion in a Patient with Van den Ende-Gupta Syndrome.

Bedeschi MF, Colombo L, Mari F, Hofmann K, Rauch A, Gentilin B, Renieri A, Clerici D.

Mol Syndromol. 2010;1(5):239-245.

6.

Mutations in SCARF2 are responsible for Van Den Ende-Gupta syndrome.

Anastasio N, Ben-Omran T, Teebi A, Ha KC, Lalonde E, Ali R, Almureikhi M, Der Kaloustian VM, Liu J, Rosenblatt DS, Majewski J, Jerome-Majewska LA.

Am J Hum Genet. 2010 Oct 8;87(4):553-9. doi: 10.1016/j.ajhg.2010.09.005.

7.

Further delineation of the Van den Ende-Gupta syndrome.

Ali R, Almureikhi M, Al-Musaifri F, Bhat V, Teebi A, Ben-Omran T.

Am J Med Genet A. 2010 Dec;152A(12):3095-100. doi: 10.1002/ajmg.a.33725.

PMID:
21108395
8.

van den Ende-Gupta syndrome: evidence for genetic heterogeneity.

Leal GF, Silva EO.

Am J Med Genet A. 2009 Jun;149A(6):1293-5. doi: 10.1002/ajmg.a.32871.

PMID:
19449421
9.

Marden-Walker-like syndrome without psychomotor retardation: report of a Brazilian girl born to consanguineous parents.

van den Ende JJ, van Bever Y, Rodini ES, Richieri-Costa A.

Am J Med Genet. 1992 Feb 15;42(4):467-9.

PMID:
1609830
10.

Iris coloboma, blepharophimosis, arachnodactyly, joint contractures: Beals syndrome and Van den Ende-Gupta syndrome phenotypic similarities.

Rebelo CC, Furtado JM, Honjo RS, Veiga KF, Ramos ES, Ferraz VE, Paula JS.

Clin Dysmorphol. 2009 Jul;18(3):142-4. doi: 10.1097/MCD.0b013e32831368ff. No abstract available.

PMID:
19339880
11.

Familial laryngomalacia in two siblings with syndromic features.

Chen JL, Messner AH, Chang KW.

Int J Pediatr Otorhinolaryngol. 2006 Sep;70(9):1651-5. Review.

PMID:
16774790
12.
13.

Congenital stridor caused by redundant arytenoid mucosa.

Yamagiwa M, Sakakura Y, Yamada S, Fukukita K, Miyoshi Y.

Int J Pediatr Otorhinolaryngol. 1981 Apr;3(2):171-7.

PMID:
7287321
14.

The Richieri-Costa and Pereira syndrome: report of two Brazilian siblings and review of literature.

Souza J, dal Vesco K, Tonocchi R, Closs-Ono MC, Passos-Bueno MR, da Silva-Freitas R.

Am J Med Genet A. 2011 May;155A(5):1173-7. doi: 10.1002/ajmg.a.33975. Review.

PMID:
21485002
15.

Diagnosis of Van den Ende-Gupta syndrome: Approach to the Marden-Walker-like spectrum of disorders.

Niederhoffer KY, Fahiminiya S, Eydoux P, Mawson J, Nishimura G, Jerome-Majewska LA, Patel MS.

Am J Med Genet A. 2016 Sep;170(9):2310-21. doi: 10.1002/ajmg.a.37831.

PMID:
27375131
16.

Roberts syndrome: study of 4 new Rgyptian cases with comparison of clinical and cytogenetic findings.

Temtamy SA, Ismail S, Helmy NA.

Genet Couns. 2006;17(1):1-13. Review.

PMID:
16719272
17.

Confirmation of microcephaly-facio-cardio-skeletal Hadziselimovic type syndrome.

Dallapiccola B, Digilio MC, Zatterale A, Galeone R, Capolino R, Mingarelli R.

Clin Dysmorphol. 2009 Jul;18(3):135-8. doi: 10.1097/MCD.0b013e32832a9e78.

PMID:
19373080
18.

Marden-Walker syndrome in two siblings.

Chia FL, Chia F.

J Paediatr Child Health. 1993 Aug;29(4):312-4.

PMID:
7690581
19.

Brachydactylic multiple delta phalanges plus syndrome.

Ahn CP, Lachman RS, Cox VA, Blumberg B, Klein OD.

Am J Med Genet A. 2005 Sep 15;138(1):41-4.

PMID:
16092122
20.

Expanding the clinical spectrum and allelic heterogeneity in van den Ende-Gupta syndrome.

Patel N, Salih MA, Alshammari MJ, Abdulwahhab F, Adly N, Alzahrani F, Elgamal EA, Elkhashab HY, Al-Qattan M, Alkuraya FS.

Clin Genet. 2014 May;85(5):492-4. doi: 10.1111/cge.12205. No abstract available.

PMID:
23808541
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