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Items: 1 to 20 of 77

1.

Genitopatellar syndrome: a further case.

Brugha R, Kinali M, Aminu K, Bridges N, Holder SE.

Clin Dysmorphol. 2011 Jul;20(3):163-5. doi: 10.1097/MCD.0b013e328345a1dd. No abstract available.

PMID:
21412151
2.
3.

Genitopatellar syndrome: a recognizable phenotype.

Reardon W.

Am J Med Genet. 2002 Aug 15;111(3):313-5.

PMID:
12210329
4.

Genitopatellar syndrome: expanding the phenotype and excluding mutations in LMX1B and TBX4.

Abdul-Rahman OA, La TH, Kwan A, Schlaubitz S, Barsh GS, Enns GM, Hudgins L.

Am J Med Genet A. 2006 Jul 15;140(14):1567-72.

PMID:
16761293
5.

Ovotestes and XY sex reversal in a female with an interstitial 9q33.3-q34.1 deletion encompassing NR5A1 and LMX1B causing features of Genitopatellar syndrome.

Schlaubitz S, Yatsenko SA, Smith LD, Keller KL, Vissers LE, Scott DA, Cai WW, Reardon W, Abdul-Rahman OA, Lammer EJ, Lifchez CA, Magenis E, Veltman JA, Stankiewicz P, Zabel BU, Lee B.

Am J Med Genet A. 2007 May 15;143A(10):1071-81.

PMID:
17431898
6.

Meier-Gorlin syndrome: report of eight additional cases and review.

Bongers EM, Opitz JM, Fryer A, Sarda P, Hennekam RC, Hall BD, Superneau DW, Harbison M, Poss A, van Bokhoven H, Hamel BC, Knoers NV.

Am J Med Genet. 2001 Aug 1;102(2):115-24. Review.

PMID:
11477602
7.

Meier-Gorlin syndrome.

Feingold M.

Am J Med Genet. 2002 May 15;109(4):338. No abstract available.

PMID:
11992493
8.

Genitopatellar syndrome: expanding the phenotype.

Lifchez CA, Rhead WJ, Leuthner SR, Lubinsky MS.

Am J Med Genet A. 2003 Sep 15;122A(1):80-3.

PMID:
12949978
9.

Breast hypoplasia and disproportionate short stature in the ear, patella, short stature syndrome: expansion of the phenotype?

Terhal PA, Ausems MG, Van Bever Y, Kate LP, Dijkstra PF, Kuijpers GM.

J Med Genet. 2000 Sep;37(9):719-21. No abstract available.

10.

Another adult with Meier-Gorlin syndrome--insights into the natural history.

Shalev SA, Hall JG.

Clin Dysmorphol. 2003 Jul;12(3):167-9.

PMID:
14564153
11.

Skeletal manifestations in Ohdo syndrome: a case with bilateral patella dislocations.

Day R, Fryer A.

Clin Dysmorphol. 2004 Jan;13(1):17-9.

PMID:
15127758
12.

RAPADILINO syndrome: a multiple malformation syndrome with radial and patellar aplasia.

Jam K, Fox M, Crandall BF.

Teratology. 1999 Jul;60(1):37-8. No abstract available.

PMID:
10413338
13.

Genitopatellar syndrome: delineating the anomalies of female genitalia.

Lammer EJ, Abrams L.

Am J Med Genet. 2002 Aug 15;111(3):316-8.

PMID:
12210330
14.

[Etiopathogenesis of Larsen's syndrome].

Wilhelm O.

Orv Hetil. 1979 Jun 3;120(22):1323-26. Hungarian. No abstract available.

PMID:
460857
15.

Al-Awadi-Raas-Rothschild (limb/pelvis/uterus-hypoplasia/aplasia) syndrome and WNT7A mutations: genetic homogeneity and nosological delineation.

Garavelli L, Wischmeijer A, Rosato S, Gelmini C, Reverberi S, Sassi S, Ferrari A, Mari F, Zabel B, Lausch E, Unger S, Superti-Furga A.

Am J Med Genet A. 2011 Feb;155A(2):332-6. doi: 10.1002/ajmg.a.33793. Epub 2010 Dec 22. No abstract available.

PMID:
21271649
16.

A critical review of cephalometric studies of dysmorphic syndromes.

Cohen MM Jr.

Proc Finn Dent Soc. 1981;77(1-3):17-25. Review. No abstract available.

PMID:
7019904
17.

[Review of the Pena-Shokeir syndrome I, Pena-Shokeir II and Neu-Laxova. Clinical and interpretative contribution].

Sulli N, del Porto G.

Minerva Pediatr. 1988 Mar;40(3):191-4. Review. Italian. No abstract available.

PMID:
3050422
18.

Early death in two sisters with Hennekam syndrome.

Scarcella A, De Lucia A, Pasquariello MB, Gambardella P.

Am J Med Genet. 2000 Jul 31;93(3):181-3.

PMID:
10925377
19.

Marden-Walker phenotype: spectrum of variability in three infants.

Ramer JC, Frankel CA, Ladda RL.

Am J Med Genet. 1993 Feb 1;45(3):285-91. Review.

PMID:
7679543
20.

Total knee arthroplasty in Meier-Gorlin syndrome.

Dudkiewicz M, Tanzer M.

J Arthroplasty. 2004 Oct;19(7):931-4.

PMID:
15483813

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