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Items: 1 to 20 of 172

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.

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
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.
5.

[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
6.

[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
7.

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
8.

Ellis-van Creveld syndrome and the Amish.

McKusick VA.

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

PMID:
10700162
9.

New syndromes of mental retardation.

Thurmon TF, Santos CL.

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

PMID:
1227531
10.

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
11.
12.

[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
13.

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
15.

Autosomal recessive mode of inheritance of a Coffin-Siris like syndrome.

Bonioli E, Palmieri A, Bertola A, Bellini C.

Genet Couns. 1995;6(4):309-12.

PMID:
8775417
16.

New autosomal recessive syndrome of sparse hair, osteopenia, and mental retardation in Mennonite sisters.

Kaler SG, Garrity AM, Stern HJ, Rosenbaum KN, Orrison BM, Marini JC, Bernardini I, Saal HM.

Am J Med Genet. 1992 Aug 1;43(6):983-8.

PMID:
1415349
17.

Molecular analysis of chromosome 21 in a patient with a phenotype of Down syndrome and apparently normal karyotype.

Ahlbom BE, Goetz P, Korenberg JR, Pettersson U, Seemanova E, Wadelius C, Zech L, Annerén G.

Am J Med Genet. 1996 Jun 28;63(4):566-72.

PMID:
8826436
18.

Unusual pattern of inheritance and orodental changes in the Ellis-van Creveld syndrome.

Mostafa MI, Temtamy SA, el-Gammal MA, Mazen IM.

Genet Couns. 2005;16(1):75-83.

PMID:
15844783
19.

Seckel syndrome in a Yemeni family in Saudi Arabia.

Krishna AG, Scrimgeour EM, Zawawi TH.

Am J Med Genet. 1994 Jul 1;51(3):224-7.

PMID:
8074149
20.

Concurrence of Robinow syndrome and Crigler-Najar syndrome in two offspring of first cousins.

Nazer H, Gunasekaran TS, Sakati NA, Nyhan WL.

Am J Med Genet. 1990 Dec;37(4):516-8.

PMID:
2260598

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