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Items: 1 to 20 of 118

1.

Management of progressive genu varum in a patient with Dyggve-Melchior-Clausen syndrome.

Kenis V, Baindurashvili A, Melchenko E, Grill F, Al Kaissi A.

Ger Med Sci. 2011;9:Doc25. doi: 10.3205/000148. Epub 2011 Sep 20.

2.

Dyggve-Melchiore-Clausen dysplasia (DMC): syndrome associated with a micropenis.

Latrech H, Skiker I, Bentata Y, Alami Z, Mouhib Lav O, Oulali N, Benajiba N, Benmassoud S, El Jabri M, Gaouzi A, Gharbi MH, Chradibi A.

Pediatr Endocrinol Rev. 2013 Dec;11(2):181-5. Erratum in: Pediatr Endocrinol Rev. 2014 Mar;11(3):289. Lah, Oumnia Mouhib [corrected to Mouhib Lav, O]; Gharbi, Mohammed El Hassan [corrected to Gharbi, M H].

PMID:
24575553
3.

Dyggve melchior clausen syndrome.

Gupta V, Kohli A, Dewan V.

Indian Pediatr. 2010 Nov;47(11):973-5.

PMID:
21149903
4.

Unpredictability of hip behavior in Dyggve-Melchior-Clausen syndrome: a mid-term assessment of siblings.

Nectoux E, Hocquet B, Fron D, Mezel A, Paris A, Herbaux B.

Orthop Traumatol Surg Res. 2013 Oct;99(6):745-8. doi: 10.1016/j.otsr.2013.04.006. Epub 2013 Sep 12. Review.

5.

Dyke-Davidoff-Masson syndrome: a case with additional brain abnormalities.

Güven H, Aytaç E, Comoğlu SS.

Acta Neurol Belg. 2014 Sep;114(3):247-9. doi: 10.1007/s13760-013-0235-1. Epub 2013 Aug 1. No abstract available.

PMID:
23903963
6.

Mutation in RAB33B, which encodes a regulator of retrograde Golgi transport, defines a second Dyggve--Melchior--Clausen locus.

Alshammari MJ, Al-Otaibi L, Alkuraya FS.

J Med Genet. 2012 Jul;49(7):455-61. doi: 10.1136/jmedgenet-2011-100666. Epub 2012 May 31.

PMID:
22652534
7.

A novel frameshift mutation and infrequent clinical findings in two cases with Dyggve-Melchior-Clausen syndrome.

Seven M, Koparir E, Gezdirici A, Aydin H, Skladny H, Fenercioğlu E, Güven G, Karataş ÖF, Koparir A, Özen M, Ulucan H.

Clin Dysmorphol. 2014 Jan;23(1):1-7. doi: 10.1097/MCD.0000000000000020.

PMID:
24300288
8.

An extremely rare association of dyggve-melchior-clausen syndrome with mania: coincidence or comorbidity.

Kar SK, Bansal S, Kumar D.

Indian J Psychol Med. 2015 Apr-Jun;37(2):226-9. doi: 10.4103/0253-7176.155644.

9.

[Dyggve-Melchior-Clausen syndrome: differential diagnosis of mucopolysaccharidosis type IV or Morquio disease].

Coëslier A, Boute-Bénéjean O, Moerman A, Fron D, Manouvrier-Hanu S.

Arch Pediatr. 2001 Aug;8(8):838-42. French.

PMID:
11524915
10.

Treatment of hip subluxation in Dyggve-Melchior-Clausen syndrome.

Hosny GA, Fabry G.

J Pediatr Orthop B. 1998 Jan;7(1):32-4.

PMID:
9481654
11.

The Dyggve-Melchior-Clausen syndrome.

Spranger J, Maroteaux P, Der Kaloustian VM.

Radiology. 1975 Feb;114(2):415-21.

PMID:
803318
12.

Dyggve-Melchior-Clausen syndrome: novel splice mutation with atlanto-axial subluxation.

Khalifa O, Imtiaz F, Al-Sakati N, Al-Manea K, Verloes A, Al-Owain M.

Eur J Pediatr. 2011 Jan;170(1):121-6. doi: 10.1007/s00431-010-1298-0. Epub 2010 Sep 24.

PMID:
20865280
13.

X-linked Dyggve-Melchior-Clausen syndrome.

Yunis E, Fontalvo J, Quintero L.

Clin Genet. 1980 Oct;18(4):284-90.

PMID:
7192195
14.

Dyggve-Melchior-Clausen syndrome without mental retardation (Smith-McCort dysplasia).

Bayrak IK, Nural MS, Diren HB.

Diagn Interv Radiol. 2005 Sep;11(3):163-5.

15.

Heterogeneity of Dyggve-Melchior-Clausen dwarfism.

Spranger J, Bierbaum B, Herrmann J.

Hum Genet. 1976 Aug 30;33(3):279-87.

PMID:
964990
16.

[Dyggve-Melchior-Clausen syndrome: description of 2 further cases].

Galasso C, Fabbri F, Pagnotta G, Palusci A, Sanna ML, Serrao Arnone D, Scirè G.

Pediatr Med Chir. 1995 Nov-Dec;17(6):573-6. Italian.

PMID:
8668596
17.

Dyggve-Melchior-Clausen syndrome.

Beighton P.

J Med Genet. 1990 Aug;27(8):512-5. No abstract available.

18.

A novel RAB33B mutation in Smith-McCort dysplasia.

Dupuis N, Lebon S, Kumar M, Drunat S, Graul-Neumann LM, Gressens P, El Ghouzzi V.

Hum Mutat. 2013 Feb;34(2):283-6. doi: 10.1002/humu.22235. Epub 2012 Nov 8.

PMID:
23042644
19.

The role of arthrography in selecting an osteotomy for the correction of genu varum in pediatric patients with achondroplasia.

Fraser SC, Neubauer PR, Ain MC.

J Pediatr Orthop B. 2011 Jan;20(1):14-6. doi: 10.1097/BPB.0b013e328340a7cf.

PMID:
20948449
20.

Dyggve-Melchior-Clausen syndrome: report of seven patients with the Smith-McCort variant and review of the literature.

Burns C, Powell BR, Hsia YE, Reinker K.

J Pediatr Orthop. 2003 Jan-Feb;23(1):88-93. Review.

PMID:
12499951
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