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Items: 1 to 20 of 101

1.

Syndromes presenting adducted thumb with/without clubfoot and Dundar syndrome.

Uzak AS, Fryns JP, Dundar M.

Genet Couns. 2014;25(2):159-69.

PMID:
25059014
2.

Musculocontractural Ehlers-Danlos Syndrome (former EDS type VIB) and adducted thumb clubfoot syndrome (ATCS) represent a single clinical entity caused by mutations in the dermatan-4-sulfotransferase 1 encoding CHST14 gene.

Malfait F, Syx D, Vlummens P, Symoens S, Nampoothiri S, Hermanns-Lê T, Van Laer L, De Paepe A.

Hum Mutat. 2010 Nov;31(11):1233-9. doi: 10.1002/humu.21355.

PMID:
20842734
3.

Loss of dermatan-4-sulfotransferase 1 function results in adducted thumb-clubfoot syndrome.

Dündar M, Müller T, Zhang Q, Pan J, Steinmann B, Vodopiutz J, Gruber R, Sonoda T, Krabichler B, Utermann G, Baenziger JU, Zhang L, Janecke AR.

Am J Hum Genet. 2009 Dec;85(6):873-82. doi: 10.1016/j.ajhg.2009.11.010.

4.

Re-assigned diagnosis of D4ST1-deficient Ehlers-Danlos syndrome (adducted thumb-clubfoot syndrome) after initial diagnosis of Marden-Walker syndrome.

Winters KA, Jiang Z, Xu W, Li S, Ammous Z, Jayakar P, Wierenga KJ.

Am J Med Genet A. 2012 Nov;158A(11):2935-40. doi: 10.1002/ajmg.a.35613.

PMID:
22987394
5.

L1CAM whole gene deletion in a child with L1 syndrome.

Chidsey BA, Baldwin EE, Toydemir R, Ahles L, Hanson H, Stevenson DA.

Am J Med Genet A. 2014 Jun;164A(6):1555-8. doi: 10.1002/ajmg.a.36474.

PMID:
24668863
6.

Delineation of dermatan 4-O-sulfotransferase 1 deficient Ehlers-Danlos syndrome: observation of two additional patients and comprehensive review of 20 reported patients.

Shimizu K, Okamoto N, Miyake N, Taira K, Sato Y, Matsuda K, Akimaru N, Ohashi H, Wakui K, Fukushima Y, Matsumoto N, Kosho T.

Am J Med Genet A. 2011 Aug;155A(8):1949-58. doi: 10.1002/ajmg.a.34115. Review.

PMID:
21744491
7.

An autosomal recessive adducted thumb-club foot syndrome observed in Turkish cousins.

Dundar M, Demiryilmaz F, Demiryilmaz I, Kumandas S, Erkilic K, Kendirci M, Tuncel M, Ozyazgan I, Tolmie JL.

Clin Genet. 1997 Jan;51(1):61-4.

PMID:
9084938
8.

Van Maldergem syndrome: further characterisation and evidence for neuronal migration abnormalities and autosomal recessive inheritance.

Mansour S, Swinkels M, Terhal PA, Wilson LC, Rich P, Van Maldergem L, Zwijnenburg PJ, Hall CM, Robertson SP, Newbury-Ecob R.

Eur J Hum Genet. 2012 Oct;20(10):1024-31. doi: 10.1038/ejhg.2012.57.

9.

Three cases with L1 syndrome and two novel mutations in the L1CAM gene.

Marín R, Ley-Martos M, Gutiérrez G, Rodríguez-Sánchez F, Arroyo D, Mora-López F.

Eur J Pediatr. 2015 Nov;174(11):1541-4. doi: 10.1007/s00431-015-2560-2.

PMID:
25948108
10.
11.

A new Ehlers-Danlos syndrome with craniofacial characteristics, multiple congenital contractures, progressive joint and skin laxity, and multisystem fragility-related manifestations.

Kosho T, Miyake N, Hatamochi A, Takahashi J, Kato H, Miyahara T, Igawa Y, Yasui H, Ishida T, Ono K, Kosuda T, Inoue A, Kohyama M, Hattori T, Ohashi H, Nishimura G, Kawamura R, Wakui K, Fukushima Y, Matsumoto N.

Am J Med Genet A. 2010 Jun;152A(6):1333-46. doi: 10.1002/ajmg.a.33498.

PMID:
20503305
12.

'Splitting versus lumping': Temple-Baraitser and Zimmermann-Laband Syndromes.

Bramswig NC, Ockeloen CW, Czeschik JC, van Essen AJ, Pfundt R, Smeitink J, Poll-The BT, Engels H, Strom TM, Wieczorek D, Kleefstra T, Lüdecke HJ.

Hum Genet. 2015 Oct;134(10):1089-97. doi: 10.1007/s00439-015-1590-1.

PMID:
26264464
13.

Adducted thumb syndromes.

Fitch N, Levy EP.

Clin Genet. 1975 Sep;8(3):190-8.

PMID:
1175322
14.

Ehlers-Danlos syndrome type VIB with characteristic facies, decreased curvatures of the spinal column, and joint contractures in two unrelated girls.

Kosho T, Takahashi J, Ohashi H, Nishimura G, Kato H, Fukushima Y.

Am J Med Genet A. 2005 Oct 15;138A(3):282-7.

PMID:
16158441
15.

Polyvalvular heart disease with joint hypermobility, characteristic facies, and particular skin abnormalities: new cases of "polyvalvular heart disease syndrome" or new association?

Edouard T, Prost-Squarcioni C, Dulac Y, Vaysse F, Cavé H, Saugier-Veber P, Bourrouillou G, Verloes A, Tauber M, Bieth E.

Eur J Med Genet. 2010 Jan-Feb;53(1):29-34. doi: 10.1016/j.ejmg.2009.11.002.

PMID:
19932204
16.

MASA syndrome: clinical variability and linkage analysis.

Rietschel M, Friedl W, Uhlhaas S, Neugebauer M, Heimann D, Zerres K.

Am J Med Genet. 1991 Oct 1;41(1):10-4.

PMID:
1951449
17.

Multiple pterygium syndrome (Escobar syndrome)--a case report.

Goh A, Lim KW, Rajalingam V.

Singapore Med J. 1994 Apr;35(2):208-10.

PMID:
7939824
18.

Extracellular matrix and platelet function in patients with musculocontractural Ehlers-Danlos syndrome caused by mutations in the CHST14 gene.

Mendoza-Londono R, Chitayat D, Kahr WH, Hinek A, Blaser S, Dupuis L, Goh E, Badilla-Porras R, Howard A, Mittaz L, Superti-Furga A, Unger S, Nishimura G, Bonafe L.

Am J Med Genet A. 2012 Jun;158A(6):1344-54. doi: 10.1002/ajmg.a.35339.

PMID:
22581468
19.

The neurology of carbonic anhydrase type II deficiency syndrome.

Bosley TM, Salih MA, Alorainy IA, Islam MZ, Oystreck DT, Suliman OS, al Malki S, Suhaibani AH, Khiari H, Beckers S, van Wesenbeeck L, Perdu B, AlDrees A, Elmalik SA, Van Hul W, Abu-Amero KK.

Brain. 2011 Dec;134(Pt 12):3502-15. doi: 10.1093/brain/awr302.

PMID:
22120147
20.

[Flexional adduction contracture of the thumbs in distal arthrogryposis type I.].

Marík I, Vrabec R, Kuklík M, Kraus J.

Acta Chir Orthop Traumatol Cech. 1992;59(4):246-52. Czech.

PMID:
20483094
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