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Results: 1 to 20 of 233

1.
2.

Mental retardation, epilepsy, short stature, and skeletal dysplasia: confirmation of the Gurrieri syndrome.

Battaglia A, Orsitto E, Gibilisco G.

Am J Med Genet. 1996 Mar 29;62(3):230-2.

PMID:
8882779
[PubMed - indexed for MEDLINE]
3.

New syndrome of mental retardation, Robin sequence, and brachydactyly.

Gurrieri F, Steindl K, Giglio S, Neri G.

Am J Med Genet. 2001 Apr 15;100(1):49-51.

PMID:
11337748
[PubMed - indexed for MEDLINE]
4.

Oral-facial-digital syndrome with retinal abnormalities: OFDS type IX. A further case report.

Nevin NC, Silvestri J, Kernohan DC, Hutchinson WM.

Am J Med Genet. 1994 Jul 1;51(3):228-31.

PMID:
8074150
[PubMed - indexed for MEDLINE]
5.

Possible case of Pitt-Hopkins syndrome in sibs.

Orrico A, Galli L, Zappella M, Lam CW, Bonifacio S, Torricelli F, Hayek G.

Am J Med Genet. 2001 Oct 1;103(2):157-9.

PMID:
11568923
[PubMed - indexed for MEDLINE]
6.

Brachydactyly type E in two sibs with increased bone density and mental retardation. A new autosomal recessive syndrome?

Stoll C, Alembik Y.

Genet Couns. 2004;15(4):421-8.

PMID:
15658617
[PubMed - indexed for MEDLINE]
7.

[Joubert's syndrome: report of 12 cases].

Barreirinho MS, Teixeira J, Moreira NC, Bastos S, Gonçalvez S, Barbot MC.

Rev Neurol. 2001 May 1-15;32(9):812-7. Spanish.

PMID:
11424029
[PubMed - indexed for MEDLINE]
8.

[Velo-cardio-facial syndrome (Shprintzen syndrome)].

Domenici R, Giovannucci Uzielli ML, Lapi E, Castelli S.

Pediatr Med Chir. 1984 Sep-Oct;6(5):695-7. Italian.

PMID:
6535135
[PubMed - indexed for MEDLINE]
9.

Esophageal atresia, hypoplasia of zygomatic complex, microcephaly, cup-shaped ears, congenital heart defect, and mental retardation--new MCA/MR syndrome in two affected sibs and a mildly affected mother?

Wieczorek D, Shaw-Smith C, Kohlhase J, Schmitt W, Buiting K, Coffey A, Howard E, Hehr U, Gillessen-Kaesbach G.

Am J Med Genet A. 2007 Jun 1;143A(11):1135-42.

PMID:
17497718
[PubMed - indexed for MEDLINE]
10.

Previously apparently undescribed autosomal recessive MCA/MR syndrome with light fixation, retinal cone dystrophy, and seizures: the M syndrome.

Rauch A, Feindt KA, Leonard CO, Thompson JA, Hoffman RO, Creel DJ, Opitz JM.

Am J Med Genet. 1999 Jan 15;82(2):194-8.

PMID:
9934988
[PubMed - indexed for MEDLINE]
11.

Yellow teeth, seizures, and mental retardation: a less severe case of Kohlschütter-Tönz syndrome.

Haberlandt E, Svejda C, Felber S, Baumgartner S, Günther B, Utermann G, Kotzot D.

Am J Med Genet A. 2006 Feb 1;140(3):281-3.

PMID:
16411202
[PubMed - indexed for MEDLINE]
12.

[Short stature, mental retardation, type I preaxial polydactyly with colobomatous abnormalities: a new syndrome].

Pfeiffer RA, Mayer U.

Klin Monbl Augenheilkd. 1987 Dec;191(6):473-7. German.

PMID:
3441111
[PubMed - indexed for MEDLINE]
13.

A new multiple congenital anomaly, mental retardation syndrome with preaxial brachydactyly, hyperphalangism, deafness and orodental anomalies.

Temtamy SA, Meguid NA, Ismail SI, Ramzy MI.

Clin Dysmorphol. 1998 Oct;7(4):249-55.

PMID:
9823490
[PubMed - indexed for MEDLINE]
14.

A Japanese girl with mental retardation, severe microretrognathia, and brachydactyly: another case of the Gurrieri syndrome.

Nakane T, Tandou T, Mitsui Y, Hayashibe H, Aihara M, Nakazawa S.

Am J Med Genet A. 2003 May 1;118A(4):398-401. No abstract available.

PMID:
12687677
[PubMed - indexed for MEDLINE]
15.

Congenital migratory ichthyosiform dermatosis with neurologic and ophthalmologic abnormalities.

Zunich J, Esterly NB, Holbrook KA, Kaye CI.

Arch Dermatol. 1985 Sep;121(9):1149-56.

PMID:
4037840
[PubMed - indexed for MEDLINE]
16.

Blepharophimosis-mental retardation (BMR) syndromes: A proposed clinical classification of the so-called Ohdo syndrome, and delineation of two new BMR syndromes, one X-linked and one autosomal recessive.

Verloes A, Bremond-Gignac D, Isidor B, David A, Baumann C, Leroy MA, Stevens R, Gillerot Y, Héron D, Héron B, Benzacken B, Lacombe D, Brunner H, Bitoun P.

Am J Med Genet A. 2006 Jun 15;140(12):1285-96.

PMID:
16700052
[PubMed - indexed for MEDLINE]
17.

Condition of microcephaly, growth retardation, joint contractures, atopic dermatitis, and mental retardation in two Japanese sisters: a new autosomal recessive MCA/MR syndrome?

Kondoh T, Yamamoto T, Kono Y, Matsumoto T, Sugawara H, Matsumoto N, Moriuchi H.

Am J Med Genet. 2001 Jul 22;102(1):63-7.

PMID:
11471174
[PubMed - indexed for MEDLINE]
18.

Facial capillary malformation and Dyke-Davidoff-Masson syndrome.

Bagazgoitia L, García-Peñas JJ, Duat-Rodríguez A, Hernández-Martín A, Torrelo A.

Pediatr Neurol. 2010 Sep;43(3):202-4. doi: 10.1016/j.pediatrneurol.2010.04.011.

PMID:
20691943
[PubMed - indexed for MEDLINE]
19.

The acrocallosal syndrome.

Nelson MM, Thomson AJ.

Am J Med Genet. 1982 Jun;12(2):195-9.

PMID:
7102724
[PubMed - indexed for MEDLINE]
20.

Congenital alopecia, psychomotor retardation, convulsions in two sibs of a consanguineous marriage.

Perniola T, Krajewska G, Carnevale F, Lospalluti M.

J Inherit Metab Dis. 1980;3(2):49-53.

PMID:
6777601
[PubMed - indexed for MEDLINE]

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