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Results: 1 to 20 of 246

Similar articles for PubMed (Select 6938130)

1.

A family with three recessive traits and homozygosity for a long 9qh+ chromosome segment.

Christian JC, Dexter RN, Palmer CG, Muller J.

Am J Med Genet. 1980;6(4):301-8.

PMID:
6938130
2.
3.

Dandy-Walker malformation in Ellis-van Creveld syndrome.

Zangwill KM, Boal DK, Ladda RL.

Am J Med Genet. 1988 Sep;31(1):123-9.

PMID:
3223493
4.

The gene for the Ellis-van Creveld syndrome is located on chromosome 4p16.

Polymeropoulos MH, Ide SE, Wright M, Goodship J, Weissenbach J, Pyeritz RE, Da Silva EO, Ortiz De Luna RI, Francomano CA.

Genomics. 1996 Jul 1;35(1):1-5.

PMID:
8661097
5.

Ellis-van Creveld syndrome: report of 15 cases in an inbred kindred.

da Silva EO, Janovitz D, de Albuquerque SC.

J Med Genet. 1980 Oct;17(5):349-56.

6.

[Congenital hydrocephalus, oligophrenia, dwarfism, centripetal obesity and hypogonadism; an X-linked recessive hereditary illness?].

Sengers RC, Hamel BC, Otten BJ, van Gils JF, de Pagter AG.

Tijdschr Kindergeneeskd. 1985 Feb;53(1):31-4. Dutch.

PMID:
4039476
7.
8.

Ellis-van Creveld syndrome. An inbred kindred with five cases.

Waldrigues A, Grohmann LC, Takahashi T, Reis HM.

Rev Bras Pesqui Med Biol. 1977 Jun;10(3):193-8.

PMID:
887831
9.

[From gene to disease; EVC, EVC2, and Ellis-van Creveld syndrome].

van Hagen JM, Baart JA, Gille JJ.

Ned Tijdschr Geneeskd. 2005 Apr 23;149(17):929-31. Review. Dutch.

PMID:
15884406
10.

A Turkish family with Ellis-van Creveld syndrome in six siblings; linkage analysis on 4p16 region (D4S3360-D4S2366).

Cağdaş DN, Parlar AI, Pac A, Tutun U, Balci S.

Genet Couns. 2008;19(4):387-95.

PMID:
19239082
11.

Ellis-van Creveld syndrome and the Amish.

McKusick VA.

Nat Genet. 2000 Mar;24(3):203-4. No abstract available.

PMID:
10700162
12.

New syndromes of mental retardation.

Thurmon TF, Santos CL.

Birth Defects Orig Artic Ser. 1975;11(2):264-8.

PMID:
1227531
13.

Mental retardation, unusual face, and intrauterine growth retardation: a new recessive syndrome?

Pitt DB, Rogers JG, Danks DM.

Am J Med Genet. 1984 Oct;19(2):307-13.

PMID:
6542309
15.

First trimester prenatal diagnosis of chondroectodermal dysplasia (Ellis-van Creveld syndrome) with ultrasound.

Dugoff L, Thieme G, Hobbins JC.

Ultrasound Obstet Gynecol. 2001 Jan;17(1):86-8.

16.
17.

[2 cases of Robinow's syndrome with mental retardation].

Baxová A, Izakovic V, Luptáková Z, Dibarborová K.

Cesk Pediatr. 1989 Sep;44(9):543-6. Slovak.

PMID:
2805135
18.

Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis.

Ruiz-Perez VL, Ide SE, Strom TM, Lorenz B, Wilson D, Woods K, King L, Francomano C, Freisinger P, Spranger S, Marino B, Dallapiccola B, Wright M, Meitinger T, Polymeropoulos MH, Goodship J.

Nat Genet. 2000 Mar;24(3):283-6. Erratum in: Nat Genet 2000 May;25(1):125.

PMID:
10700184
19.

Provisionally unique autosomal recessive syndrome due to significant consanguinity.

Avegno J, Tilton AH, Lacassie Y.

Am J Med Genet. 2001 Sep 1;102(4):324-6.

PMID:
11503158
20.

Homozygosity mapping in consanguineous families reveals extreme heterogeneity of non-syndromic autosomal recessive mental retardation and identifies 8 novel gene loci.

Najmabadi H, Motazacker MM, Garshasbi M, Kahrizi K, Tzschach A, Chen W, Behjati F, Hadavi V, Nieh SE, Abedini SS, Vazifehmand R, Firouzabadi SG, Jamali P, Falah M, Seifati SM, Grüters A, Lenzner S, Jensen LR, Rüschendorf F, Kuss AW, Ropers HH.

Hum Genet. 2007 Mar;121(1):43-8. Epub 2006 Nov 21.

PMID:
17120046
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