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Results: 1 to 20 of 27

1.

ZFHX1B mutations in patients with Mowat-Wilson syndrome.

Dastot-Le Moal F, Wilson M, Mowat D, Collot N, Niel F, Goossens M.

Hum Mutat. 2007 Apr;28(4):313-21.

PMID:
17203459
[PubMed - indexed for MEDLINE]
2.

Peters Plus syndrome is caused by mutations in B3GALTL, a putative glycosyltransferase.

Lesnik Oberstein SA, Kriek M, White SJ, Kalf ME, Szuhai K, den Dunnen JT, Breuning MH, Hennekam RC.

Am J Hum Genet. 2006 Sep;79(3):562-6. Epub 2006 Jul 19. Erratum in: Am J Hum Genet. 2006 Nov;79(5):985.

PMID:
16909395
[PubMed - indexed for MEDLINE]
Free PMC Article
3.

A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism.

Koolen DA, Vissers LE, Pfundt R, de Leeuw N, Knight SJ, Regan R, Kooy RF, Reyniers E, Romano C, Fichera M, Schinzel A, Baumer A, Anderlid BM, Schoumans J, Knoers NV, van Kessel AG, Sistermans EA, Veltman JA, Brunner HG, de Vries BB.

Nat Genet. 2006 Sep;38(9):999-1001. Epub 2006 Aug 13.

PMID:
16906164
[PubMed - indexed for MEDLINE]
4.

Microdeletion encompassing MAPT at chromosome 17q21.3 is associated with developmental delay and learning disability.

Shaw-Smith C, Pittman AM, Willatt L, Martin H, Rickman L, Gribble S, Curley R, Cumming S, Dunn C, Kalaitzopoulos D, Porter K, Prigmore E, Krepischi-Santos AC, Varela MC, Koiffmann CP, Lees AJ, Rosenberg C, Firth HV, de Silva R, Carter NP.

Nat Genet. 2006 Sep;38(9):1032-7. Epub 2006 Aug 13.

PMID:
16906163
[PubMed - indexed for MEDLINE]
5.

Discovery of previously unidentified genomic disorders from the duplication architecture of the human genome.

Sharp AJ, Hansen S, Selzer RR, Cheng Z, Regan R, Hurst JA, Stewart H, Price SM, Blair E, Hennekam RC, Fitzpatrick CA, Segraves R, Richmond TA, Guiver C, Albertson DG, Pinkel D, Eis PS, Schwartz S, Knight SJ, Eichler EE.

Nat Genet. 2006 Sep;38(9):1038-42. Epub 2006 Aug 13.

PMID:
16906162
[PubMed - indexed for MEDLINE]
6.

Congenital central hypoventilation syndrome: PHOX2B mutations and phenotype.

Berry-Kravis EM, Zhou L, Rand CM, Weese-Mayer DE.

Am J Respir Crit Care Med. 2006 Nov 15;174(10):1139-44. Epub 2006 Aug 3.

PMID:
16888290
[PubMed - indexed for MEDLINE]
7.

Pitt-Hopkins syndrome in two patients and further definition of the phenotype.

Peippo MM, Simola KO, Valanne LK, Larsen AT, Kähkönen M, Auranen MP, Ignatius J.

Clin Dysmorphol. 2006 Apr;15(2):47-54.

PMID:
16531728
[PubMed - indexed for MEDLINE]
8.

Molecular karyotyping in human constitutional cytogenetics.

Sanlaville D, Lapierre JM, Turleau C, Coquin A, Borck G, Colleaux L, Vekemans M, Romana SP.

Eur J Med Genet. 2005 Jul-Sep;48(3):214-31. Review.

PMID:
16179218
[PubMed - indexed for MEDLINE]
9.

Clinical and mutational spectrum of Mowat-Wilson syndrome.

Zweier C, Thiel CT, Dufke A, Crow YJ, Meinecke P, Suri M, Ala-Mello S, Beemer F, Bernasconi S, Bianchi P, Bier A, Devriendt K, Dimitrov B, Firth H, Gallagher RC, Garavelli L, Gillessen-Kaesbach G, Hudgins L, Kääriäinen H, Karstens S, Krantz I, Mannhardt A, Medne L, Mücke J, Kibaek M, Krogh LN, Peippo M, Rittinger O, Schulz S, Schelley SL, Temple IK, Dennis NR, Van der Knaap MS, Wheeler P, Yerushalmi B, Zenker M, Seidel H, Lachmeijer A, Prescott T, Kraus C, Lowry RB, Rauch A.

Eur J Med Genet. 2005 Apr-Jun;48(2):97-111. Epub 2005 Feb 25.

PMID:
16053902
[PubMed - indexed for MEDLINE]
10.

Molecular karyotyping: array CGH quality criteria for constitutional genetic diagnosis.

Vermeesch JR, Melotte C, Froyen G, Van Vooren S, Dutta B, Maas N, Vermeulen S, Menten B, Speleman F, De Moor B, Van Hummelen P, Marynen P, Fryns JP, Devriendt K.

J Histochem Cytochem. 2005 Mar;53(3):413-22.

PMID:
15750031
[PubMed - indexed for MEDLINE]
11.

Molecular karyotyping using an SNP array for genomewide genotyping.

Rauch A, Rüschendorf F, Huang J, Trautmann U, Becker C, Thiel C, Jones KW, Reis A, Nürnberg P.

J Med Genet. 2004 Dec;41(12):916-22.

PMID:
15591277
[PubMed - indexed for MEDLINE]
Free PMC Article
12.

Mutations in a new member of the chromodomain gene family cause CHARGE syndrome.

Vissers LE, van Ravenswaaij CM, Admiraal R, Hurst JA, de Vries BB, Janssen IM, van der Vliet WA, Huys EH, de Jong PJ, Hamel BC, Schoenmakers EF, Brunner HG, Veltman JA, van Kessel AG.

Nat Genet. 2004 Sep;36(9):955-7. Epub 2004 Aug 8.

PMID:
15300250
[PubMed - indexed for MEDLINE]
13.

Noradrenergic neuronal development is impaired by mutation of the proneural HASH-1 gene in congenital central hypoventilation syndrome (Ondine's curse).

de Pontual L, Népote V, Attié-Bitach T, Al Halabiah H, Trang H, Elghouzzi V, Levacher B, Benihoud K, Augé J, Faure C, Laudier B, Vekemans M, Munnich A, Perricaudet M, Guillemot F, Gaultier C, Lyonnet S, Simonneau M, Amiel J.

Hum Mol Genet. 2003 Dec 1;12(23):3173-80. Epub 2003 Oct 7.

PMID:
14532329
[PubMed - indexed for MEDLINE]
Free Article
14.

The pT alpha promoter and enhancer are direct targets for transactivation by E box-binding proteins.

Petersson K, Ivars F, Sigvardsson M.

Eur J Immunol. 2002 Mar;32(3):911-20.

PMID:
11870636
[PubMed - indexed for MEDLINE]
15.

MASH-1/RET pathway involvement in development of brain stem control of respiratory frequency in newborn mice.

Dauger S, Guimiot F, Renolleau S, Levacher B, Boda B, Mas C, Nepote V, Simonneau M, Gaultier C, Gallego J.

Physiol Genomics. 2001 Dec 21;7(2):149-57.

PMID:
11773601
[PubMed - indexed for MEDLINE]
16.

Hirschsprung disease, associated syndromes, and genetics: a review.

Amiel J, Lyonnet S.

J Med Genet. 2001 Nov;38(11):729-39. Review.

PMID:
11694544
[PubMed - indexed for MEDLINE]
Free PMC Article
17.

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]
18.

Mutations in SIP1, encoding Smad interacting protein-1, cause a form of Hirschsprung disease.

Wakamatsu N, Yamada Y, Yamada K, Ono T, Nomura N, Taniguchi H, Kitoh H, Mutoh N, Yamanaka T, Mushiake K, Kato K, Sonta S, Nagaya M.

Nat Genet. 2001 Apr;27(4):369-70.

PMID:
11279515
[PubMed - indexed for MEDLINE]
19.

The basic helix-loop-helix transcription factor E2-2 is involved in T lymphocyte development.

Bergqvist I, Eriksson M, Saarikettu J, Eriksson B, Corneliussen B, Grundström T, Holmberg D.

Eur J Immunol. 2000 Oct;30(10):2857-63.

PMID:
11069067
[PubMed - indexed for MEDLINE]
20.

HASH-1 and E2-2 are expressed in human neuroblastoma cells and form a functional complex.

Persson P, Jögi A, Grynfeld A, Påhlman S, Axelson H.

Biochem Biophys Res Commun. 2000 Jul 21;274(1):22-31.

PMID:
10903890
[PubMed - indexed for MEDLINE]

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