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Results: 1 to 20 of 275

1.

Newly recognized autosomal recessive MCA/MR/overgrowth syndrome.

Richieri-Costa A, Guion-Almeida ML, Cohen MM Jr.

Am J Med Genet. 1993 Aug 15;47(2):278-80.

PMID:
8213920
[PubMed - indexed for MEDLINE]
2.

Previously undescribed spondyloepiphyseal dysplasia associated with craniosynostosis, cataracts, cleft palate, and mental retardation: report of four sibs.

Nishimura G, Fukushima Y, Aihara T, Ohashi H, Nishimoto H, Nishimura J.

Am J Med Genet. 1998 Apr 28;77(1):1-7.

PMID:
9557884
[PubMed - indexed for MEDLINE]
3.

Carpenter syndrome with normal intelligence: Brazilian girl born to consanguineous parents.

Richieri-Costa A, Pirolo Júnior L, Cohen MM Jr.

Am J Med Genet. 1993 Aug 15;47(2):281-3.

PMID:
8213921
[PubMed - indexed for MEDLINE]
4.

Evidence for autosomal recessive inheritance in cerebral gigantism.

Nevo S, Zeltzer M, Benderly A, Levy J.

J Med Genet. 1974 Jun;11(2):158-65. No abstract available.

PMID:
4841084
[PubMed - indexed for MEDLINE]
Free PMC Article
5.

Syndrome of mental retardation, facial anomalies, hypopituitarism, and distal arthrogryposis in sibs.

Chitayat D, Hall JG, Couch RM, Phang MS, Baldwin VJ.

Am J Med Genet. 1990 Sep;37(1):65-70.

PMID:
2240046
[PubMed - indexed for MEDLINE]
6.

New autosomal recessive syndrome of mental retardation, coarse face, microcephaly, epilepsy and skeletal abnormalities.

Battaglia A, Ferrari AR, Orsitto E, Gibilisco G, Neri G.

Clin Dysmorphol. 1996 Jan;5(1):41-7.

PMID:
8867658
[PubMed - indexed for MEDLINE]
7.

Fallot complex, severe mental, and growth retardation: a new autosomal recessive syndrome?

Bindewald B, Ulmer H, Müller U.

Am J Med Genet. 1994 Apr 1;50(2):173-6.

PMID:
8010348
[PubMed - indexed for MEDLINE]
8.

A previously undescribed autosomal recessive multiple congenital anomalies/mental retardation (MCA/MR) syndrome with growth failure, lip/palate cleft(s), and urogenital anomalies.

Malpuech G, Demeocq F, Palcoux JB, Vanlieferinghen P.

Am J Med Genet. 1983 Dec;16(4):475-80.

PMID:
6660246
[PubMed - indexed for MEDLINE]
9.

[Spondylo-epiphyseal dysplasia associated with craniosynostosis, cleft palate and mental retardation. A case report].

Herrera-Martínez AD, Estrada-Corona P.

Invest Clin. 2010 Dec;51(4):553-60. Spanish.

PMID:
21365879
[PubMed - indexed for MEDLINE]
11.

Apparently new MCA/MR syndrome in sibs with cleft lip and palate and other facial, eye, heart, and intestinal anomalies.

Kapur S, Toriello HV.

Am J Med Genet. 1991 Dec 15;41(4):423-5.

PMID:
1776630
[PubMed - indexed for MEDLINE]
12.

Craniosynostosis and lid anomalies: report of a girl with Michels syndrome.

Cunniff C, Jones KL.

Am J Med Genet. 1990 Sep;37(1):28-30.

PMID:
2240039
[PubMed - indexed for MEDLINE]
13.

Jancar syndrome: mental retardation, spasticity, and distal transverse limbs defects.

Zlotogora J, Glick B.

Am J Med Genet. 1993 Aug 1;47(1):89-90. Review.

PMID:
8368260
[PubMed - indexed for MEDLINE]
14.

Craniomicromelic syndrome: a newly recognized lethal condition with craniosynostosis, distinct facial anomalies, short limbs, and intrauterine growth retardation.

Barr M Jr, Heidelberger KP, Comstock CH.

Am J Med Genet. 1995 Sep 25;58(4):348-52.

PMID:
8533844
[PubMed - indexed for MEDLINE]
15.

Mental retardation, structural anomalies of the central nervous system, anophthalmia and abnormal nares: a new MCA/MR syndrome of unknown cause.

Richieri-Costa A, Guion-Almeida ML.

Am J Med Genet. 1993 Oct 1;47(5):702-6.

PMID:
8266999
[PubMed - indexed for MEDLINE]
16.

New multiple congenital anomalies: mental retardation syndrome (MCA/MR) with facio-cutaneous-skeletal involvement.

Borochowitz Z, Pavone L, Mazor G, Rizzo R, Dar H.

Am J Med Genet. 1992 Jul 1;43(4):678-85. Review.

PMID:
1621757
[PubMed - indexed for MEDLINE]
17.

Trigonocephaly and the Opitz C syndrome.

Sargent C, Burn J, Baraitser M, Pembrey ME.

J Med Genet. 1985 Feb;22(1):39-45.

PMID:
3981579
[PubMed - indexed for MEDLINE]
Free PMC Article
18.

Craniofacial anomalies, cataracts, congenital heart disease, sacral neural tube defects, and growth and developmental retardation in two sisters: a new autosomal recessive MCA/MR syndrome?

Siegel-Bartlet J, Levin A, Teebi AS, Kennedy SJ.

J Med Genet. 2002 Feb;39(2):145-8. No abstract available.

PMID:
11836368
[PubMed - indexed for MEDLINE]
Free PMC Article
19.

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]
20.

Facio-cardio-renal syndrome: a newly delineated recessive disorder.

Eastman JR, Bixler D.

Clin Genet. 1977 Jun;11(6):424-30.

PMID:
880742
[PubMed - indexed for MEDLINE]

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