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Items: 1 to 20 of 220

1.

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
2.

Genitopatellar syndrome: a recognizable phenotype.

Reardon W.

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

PMID:
12210329
3.

Genitopatellar syndrome: a new condition comprising absent patellae, scrotal hypoplasia, renal anomalies, facial dysmorphism, and mental retardation.

Cormier-Daire V, Chauvet ML, Lyonnet S, Briard ML, Munnich A, Le Merrer M.

J Med Genet. 2000 Jul;37(7):520-4.

4.

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
5.

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
6.
7.
8.

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
10.
11.

Thrombocytopenia-absent radius (tar) syndrome: a case with agenesis of corpus callosum, hypoplasia of cerebellar vermis and horseshoe kidney.

Skórka A, Bielicka-Cymermann J, Gieruszczak-Białek D, Korniszewski L.

Genet Couns. 2005;16(4):377-82.

PMID:
16440880
12.

Genitopatellar syndrome: a case report of a rare entity with 11 years of follow-up.

To M, Negandhi R, Cheung K, Cheung WY, Chow W.

J Pediatr Orthop B. 2013 Jul;22(4):333-8. doi: 10.1097/BPB.0b013e3283528d40.

PMID:
22568963
13.

Further delineation of the ear, patella, short stature syndrome (Meier-Gorlin syndrome).

Boles RG, Teebi AS, Schwartz D, Harper JF.

Clin Dysmorphol. 1994 Jul;3(3):207-14.

PMID:
7981855
14.

Clinical features and management issues in Mowat-Wilson syndrome.

Adam MP, Schelley S, Gallagher R, Brady AN, Barr K, Blumberg B, Shieh JT, Graham J, Slavotinek A, Martin M, Keppler-Noreuil K, Storm AL, Hudgins L.

Am J Med Genet A. 2006 Dec 15;140(24):2730-41.

PMID:
17103451
15.

Mutations of ARX are associated with striking pleiotropy and consistent genotype-phenotype correlation.

Kato M, Das S, Petras K, Kitamura K, Morohashi K, Abuelo DN, Barr M, Bonneau D, Brady AF, Carpenter NJ, Cipero KL, Frisone F, Fukuda T, Guerrini R, Iida E, Itoh M, Lewanda AF, Nanba Y, Oka A, Proud VK, Saugier-Veber P, Schelley SL, Selicorni A, Shaner R, Silengo M, Stewart F, Sugiyama N, Toyama J, Toutain A, Vargas AL, Yanazawa M, Zackai EH, Dobyns WB.

Hum Mutat. 2004 Feb;23(2):147-59.

PMID:
14722918
16.

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
17.

Recurrence of Mowat-Wilson syndrome in siblings with the same proven mutation.

McGaughran J, Sinnott S, Dastot-Le Moal F, Wilson M, Mowat D, Sutton B, Goossens M.

Am J Med Genet A. 2005 Sep 1;137A(3):302-4.

PMID:
16088920
18.

Interstitial microdeletion of chromosome 1p in two siblings.

Campbell CG, Wang H, Hunter GW.

Am J Med Genet. 2002 Aug 15;111(3):289-94.

PMID:
12210325
19.
20.

Two sisters with Escobar syndrome.

Spranger S, Spranger M, Meinck HM, Tariverdian G.

Am J Med Genet. 1995 Jul 3;57(3):425-8.

PMID:
7677145
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