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Items: 1 to 20 of 31

1.

Microcephaly, retinal dysplasia, pedal edema, mental retardation, and short stature.

Mahmoud AA, Abdul-Aziz MM, Al-Tala SM, Ahmed FO.

Neurosciences (Riyadh). 2006 Jul;11(3):210-2.

PMID:
22266624
2.

How many entities exist for the spectrum of disorders associated with brachydactyly, syndactyly, short stature, microcephaly, and intellectual disability?

Ravel A, Chouery E, Stora S, Jalkh N, Villard L, Temtamy S, Mégarbané A.

Am J Med Genet A. 2011 Apr;155A(4):880-4. doi: 10.1002/ajmg.a.33879. Epub 2011 Mar 17.

PMID:
21416592
3.

Dental and craniofacial characteristics in a patient with Dubowitz syndrome: a case report.

Ballini A, Cantore S, Tullo D, Desiate A.

J Med Case Rep. 2011 Jan 27;5:38. doi: 10.1186/1752-1947-5-38.

4.

Giuffrè-Tsukahara syndrome: Evidence for X-linked dominant inheritance and review.

Dalal AB, Sarkar A, Priya TP, Nandineni MR.

Am J Med Genet A. 2010 Aug;152A(8):2057-60. doi: 10.1002/ajmg.a.33505. Review.

PMID:
20635354
5.

A second patient with Tsukahara syndrome: type A1 brachydactyly, short stature, hearing loss, microcephaly, mental retardation and ptosis.

Utine GE, Breckpot J, Thienpont B, Alanay Y, Aksoy C, Boduroğlu K, Devriendt K.

Am J Med Genet A. 2010 Apr;152A(4):947-9. doi: 10.1002/ajmg.a.33325.

PMID:
20358606
6.

A novel duplication of chromosome (13)(q14.1q21.3) in a patient with mental retardation and microcephaly.

Verhoeven W, Ruiter M, Egger J, Tuinier S, Smeets D.

Genet Couns. 2009;20(1):45-51.

PMID:
19400541
7.

Fetal alcohol spectrum disorder: report of one case.

Huang YC, Lo HY, Chaou WT.

Acta Paediatr Taiwan. 2008 Jan-Feb;49(1):28-30.

PMID:
18581726
8.

Clinical delineation of Giuffrè-Tsukahara syndrome: another case with microcephaly and radio-ulnar synostosis with apparent X-linked semi-dominant inheritance.

Gaspar H, Albermann K, Baumer A, Schinzel A.

Am J Med Genet A. 2008 Jun 1;146A(11):1453-7. doi: 10.1002/ajmg.a.32314.

PMID:
18449925
9.

A new case of Martsolf syndrome.

Bora E, Cankaya T, Alpman A, Karaca E, Cogulu O, Tekgul H, Ozkinay F.

Genet Couns. 2007;18(1):71-5.

PMID:
17515302
10.

Detection of a de novo interstitial 2q microdeletion by CGH microarray analysis in a patient with limb malformations, microcephaly and mental retardation.

Svensson AM, Curry CJ, South ST, Whitby H, Maxwell TM, Aston E, Fisher J, Carmack CE, Scheffer A, Abu-Shamsieh A, Brothman AR.

Am J Med Genet A. 2007 Jun 15;143A(12):1348-53.

PMID:
17506097
11.

An exceptional Albanian family with seven children presenting with dysmorphic features and mental retardation: maternal phenylketonuria.

Knerr I, Zschocke J, Schellmoser S, Topf HG, Weigel C, Dötsch J, Rascher W.

BMC Pediatr. 2005 Apr 5;5(1):5.

12.

Additional case of Tsukahara's syndrome or new syndrome: further delineation of the association of microcephaly and radio-ulnar synostosis.

Selicorni A, Ferrarini A, Cagnoli G, Fratoni A, Bottigelli M, Milani D.

Am J Med Genet A. 2005 Jan 15;132A(2):189-90. Review.

PMID:
15578583
14.

Spondylocarpotarsal synostosis with epiphyseal dysplasia.

Honeywell C, Langer L, Allanson J.

Am J Med Genet. 2002 May 15;109(4):318-22.

PMID:
11992487
15.
16.

[Ring chromosome 8: microcephaly, mental retardation and minor facial anomalies with adhesive behavioral phenotype].

Bibas Bonet H, Fontenla M, Fauze R, G de Pinat I.

Rev Neurol. 2001 Apr 16-30;32(8):746-50. Spanish.

PMID:
11391511
17.

Tsukahara syndrome of radioulnar synostosis, short stature, microcephaly, scoliosis, and mental retardation.

Udler Y, Halpern GJ, Shohat M, Cohen D.

Am J Med Genet. 1998 Dec 28;80(5):526-8. No abstract available.

PMID:
9880222
18.

Leiomyoma of uterus in a patient with ring chromosome 12: case presentation and literature review.

Hajianpour MJ, Hajianpour AK, Habibian R, Wohlmuth C.

Am J Med Genet. 1996 May 17;63(2):335-9. Review.

PMID:
8725781
19.

Progressive scoliosis in Dubowitz syndrome.

Soyer AD, McConnell JR.

Spine (Phila Pa 1976). 1995 Nov 1;20(21):2335-7.

PMID:
8553122
20.

Radio-ulnar synostosis, short stature, microcephaly, scoliosis, and mental retardation.

Tsukahara M, Matsuo K, Furukawa S.

Am J Med Genet. 1995 Aug 28;58(2):159-60.

PMID:
8533809

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