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Results: 18

Related Articles by Review for PubMed (Select 8867655)

1.

Two brothers with deafness, femoral epiphyseal dysplasia, short stature and developmental delay.

Chitty LS, Hall CM, Baraitser M.

Clin Dysmorphol. 1996 Jan;5(1):17-25.

PMID:
8867655
2.

[Changes in the epiphysis and epiphyseal plate in systemic and genetically-induced diseases].

Enderle A.

Z Orthop Ihre Grenzgeb. 1996 Jul-Aug;134(4):309-16. Review. German.

PMID:
8928558
3.

Spondylo-mega-epiphyseal dysplasia with prominent upper limb mesomelia, punctate calcifications, and deafness.

Agarwal VK, Lachman RS, Rimoin DL, Wilcox WR.

Am J Med Genet A. 2005 Jul 30;136(3):233-41. Review.

PMID:
15954110
4.

Poly-epiphyseal overgrowth: description of a previously unreported skeletal dysplasia.

Pazzaglia UE, Beluffi G, Marchi A, Bozzola M, Savasta S, Bonaspetti G.

Pediatr Radiol. 2007 Oct;37(10):1025-30. Epub 2007 Jul 26. Review.

PMID:
17653707
5.

Microcephaly is not mandatory for the diagnosis of mosaic variegated aneuploidy syndrome.

Callier P, Faivre L, Cusin V, Marle N, Thauvin-Robinet C, Sandre D, Rousseau T, Sagot P, Lacombe E, Faber V, Mugneret F.

Am J Med Genet A. 2005 Aug 30;137(2):204-7. Review.

PMID:
16059936
6.

KBG syndrome.

Brancati F, Sarkozy A, Dallapiccola B.

Orphanet J Rare Dis. 2006 Dec 12;1:50. Review.

7.

Bone dysplasia, midface hypoplasia, and deafness: three new patients and review of the literature.

Kääriäinen H, Barrow M, Hennekam R.

Am J Med Genet. 1993 Apr 15;46(2):223-7. Review.

PMID:
8484414
8.

[The origin of femoral trochlear dysplasia: comparative anatomy, evolution, and growth of the patellofemoral joint].

Tardieu C, Dupont JY.

Rev Chir Orthop Reparatrice Appar Mot. 2001 Jun;87(4):373-83. Review. French.

PMID:
11431633
9.

HDR syndrome (hypoparathyroidism, sensorineural deafness, renal dysplasia) associated with del(10)(p13).

Hasegawa T, Hasegawa Y, Aso T, Koto S, Nagai T, Tsuchiya Y, Kim KC, Ohashi H, Wakui K, Fukushima Y.

Am J Med Genet. 1997 Dec 31;73(4):416-8. Review.

PMID:
9415468
10.

Proximal focal femoral deficiency--a rare entity in the sonographic differential diagnosis of developmental dysplasia of the hip.

Kayser R, Mahlfeld K, Grasshoff H, Merk HR.

J Pediatr. 2005 Jan;146(1):141. Review. No abstract available.

PMID:
15644841
11.

The syndrome of hypoparathyroidism, severe growth failure, developmental delay and distinctive facies.

al-Gazali LI, Dawodu A.

Clin Dysmorphol. 1997 Jul;6(3):233-7. Review.

PMID:
9220193
12.

Smith-Fineman-Myers syndrome in apparently monozygotic twins.

Guion-Almeida ML, Tabith A Jr, Kokitsu-Nakata NM, Zechi RM.

Am J Med Genet. 1998 Sep 23;79(3):205-8. Review.

PMID:
9788563
13.

Cerebellar hypoplasia-endosteal sclerosis: a long term follow-up.

Ozgen HM, Overweg-Plandsoen WC, Blees-Pelk J, Besselaar PP, Hennekam RC.

Am J Med Genet A. 2005 Apr 15;134A(2):215-9. Review.

PMID:
15672385
14.

Floating-Harbor syndrome and intramedullary spinal cord ganglioglioma: case report and observations from the literature.

Nelson RA, McNamara M, Ellis W, Stein-Wexler R, Moghaddam B, Zwerdling T.

Am J Med Genet A. 2009 Oct;149A(10):2265-9. doi: 10.1002/ajmg.a.33014. Review.

PMID:
19764022
15.

Majewski osteodysplastic primordial dwarfism type II (MOPD II): natural history and clinical findings.

Hall JG, Flora C, Scott CI Jr, Pauli RM, Tanaka KI.

Am J Med Genet A. 2004 Sep 15;130A(1):55-72. Review.

PMID:
15368497
16.

A clinical report of a patient with two abnormal cell lines: 46,XX,del(21)(q22.1) and 47,XX,+3.

Quigley DI, Sailus J, Kaiser-Rogers K, Rao KW, Calikoglu M, Gold S, McCandless SE.

Am J Med Genet A. 2005 Jan 1;132A(1):101-5. Review.

PMID:
15580640
17.

Spondyloepimetaphyseal dysplasia of Maroteaux (pseudo-Morquio type II syndrome): report of a new patient and review of the literature.

Mégarbané A, Maroteaux P, Caillaud C, Le Merrer M.

Am J Med Genet A. 2004 Feb 15;125A(1):61-6. Review.

PMID:
14755468
18.

Pycnodysostosis.

Muganagowda, Banapurmath CR, Kesaree N, Hegde SR, Umesh L.

Indian Pediatr. 1993 Jun;30(6):798-800. Review. No abstract available.

PMID:
8132264
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