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Results: 1 to 20 of 123

1.

Brachydactyly and mental retardation: an Albright hereditary osteodystrophy-like syndrome localized to 2q37.

Wilson LC, Leverton K, Oude Luttikhuis ME, Oley CA, Flint J, Wolstenholme J, Duckett DP, Barrow MA, Leonard JV, Read AP, et al.

Am J Hum Genet. 1995 Feb;56(2):400-7.

PMID:
7847374
[PubMed - indexed for MEDLINE]
Free PMC Article
2.

Molecular characterization of a cryptic 2q37 deletion in a patient with Albright hereditary osteodystrophy-like phenotype.

Chassaing N, De Mas P, Tauber M, Vincent MC, Julia S, Bourrouillou G, Calvas P, Bieth E.

Am J Med Genet A. 2004 Aug 1;128A(4):410-3.

PMID:
15264288
[PubMed - indexed for MEDLINE]
3.

Molecular delineation of deletions on 2q37.3 in three cases with an Albright hereditary osteodystrophy-like phenotype.

Shrimpton AE, Braddock BR, Thomson LL, Stein CK, Hoo JJ.

Clin Genet. 2004 Dec;66(6):537-44.

PMID:
15521982
[PubMed - indexed for MEDLINE]
4.

Narrowing the candidate region of Albright hereditary osteodystrophy-like syndrome by deletion mapping in a patient with an unbalanced cryptic translocation t(2;6)(q37.3;q26).

Giardino D, Finelli P, Gottardi G, De Canal G, Della Monica M, Lonardo F, Scarano G, Larizza L.

Am J Med Genet A. 2003 Oct 15;122A(3):261-5.

PMID:
12966529
[PubMed - indexed for MEDLINE]
5.

RDCI, the vasoactive intestinal peptide receptor: a candidate gene for the features of Albright hereditary osteodystrophy associated with deletion of 2q37.

Power MM, James RS, Barber JC, Fisher AM, Wood PJ, Leatherdale BA, Flanagan DE, Hatchwell E.

J Med Genet. 1997 Apr;34(4):287-90.

PMID:
9138150
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

Two further AHO-like syndrome patients with deletion of glypican 1 gene region in 2q37.2-q37.3.

Polityko A, Maltseva O, Rumyantseva N, Khurs O, Seidel J, Claussen U, Weise A, Liehr T, Starke H.

Int J Mol Med. 2004 Dec;14(6):977-9.

PMID:
15547662
[PubMed - indexed for MEDLINE]
7.

A rare case of 2q37 microdeletion with Albright hereditary osteodystrophy-like phenotype.

Simşek-Kiper PO, Utine GE, Alanay Y, Aktaş D, Alikaşifoğlu M, Boduroğlu K.

Turk J Pediatr. 2011 Sep-Oct;53(5):558-60.

PMID:
22272459
[PubMed - indexed for MEDLINE]
Free Article
8.

Albright hereditary osteodystrophy and del(2) (q37.3) in four unrelated individuals.

Phelan MC, Rogers RC, Clarkson KB, Bowyer FP, Levine MA, Estabrooks LL, Severson MC, Dobyns WB.

Am J Med Genet. 1995 Jul 31;58(1):1-7.

PMID:
7573148
[PubMed - indexed for MEDLINE]
9.

Deletion 3q22.1-q23 with blepharophimosis, ptosis and epicanthus inversus and an Albright hereditary osteodystrophy-like brachydactyly phenotype.

Croft MS, Turnpenny PD.

Clin Dysmorphol. 2008 Jul;17(3):189-91. doi: 10.1097/MCD.0b013e3282f4a984. No abstract available.

PMID:
18541966
[PubMed - indexed for MEDLINE]
10.

Molecular cytogenetic analysis of five 2q37 deletions: refining the brachydactyly candidate region.

Chaabouni M, Le Merrer M, Raoul O, Prieur M, de Blois MC, Philippe A, Vekemans M, Romana SP.

Eur J Med Genet. 2006 May-Jun;49(3):255-63. Epub 2005 Aug 18.

PMID:
16762827
[PubMed - indexed for MEDLINE]
11.

Phenotypic variant of Brachydactyly-mental retardation syndrome in a family with an inherited interstitial 2q37.3 microdeletion including HDAC4.

Villavicencio-Lorini P, Klopocki E, Trimborn M, Koll R, Mundlos S, Horn D.

Eur J Hum Genet. 2013 Jul;21(7):743-8. doi: 10.1038/ejhg.2012.240. Epub 2012 Nov 28.

PMID:
23188045
[PubMed - indexed for MEDLINE]
Free PMC Article
12.

Familial cryptic translocation between chromosomes 2qter and 8qter: further delineation of the Albright hereditary osteodystrophy-like phenotype.

Bijlsma EK, Aalfs CM, Sluitjer S, Oude Luttikhuis ME, Trembath RC, Hoovers JM, Hennekam RC.

J Med Genet. 1999 Aug;36(8):604-9.

PMID:
10465110
[PubMed - indexed for MEDLINE]
Free PMC Article
13.

Haploinsufficiency of HDAC4 causes brachydactyly mental retardation syndrome, with brachydactyly type E, developmental delays, and behavioral problems.

Williams SR, Aldred MA, Der Kaloustian VM, Halal F, Gowans G, McLeod DR, Zondag S, Toriello HV, Magenis RE, Elsea SH.

Am J Hum Genet. 2010 Aug 13;87(2):219-28. doi: 10.1016/j.ajhg.2010.07.011.

PMID:
20691407
[PubMed - indexed for MEDLINE]
Free PMC Article
14.

Isolated autosomal dominant type E brachydactyly: exclusion of linkage to candidate regions 2q37 and 20q13.

Oude Luttikhuis ME, Williams DK, Trembath RC.

J Med Genet. 1996 Oct;33(10):873-6.

PMID:
8933344
[PubMed - indexed for MEDLINE]
Free PMC Article
15.

The 2q37-deletion syndrome: an update of the clinical spectrum including overweight, brachydactyly and behavioural features in 14 new patients.

Leroy C, Landais E, Briault S, David A, Tassy O, Gruchy N, Delobel B, Grégoire MJ, Leheup B, Taine L, Lacombe D, Delrue MA, Toutain A, Paubel A, Mugneret F, Thauvin-Robinet C, Arpin S, Le Caignec C, Jonveaux P, Beri M, Leporrier N, Motte J, Fiquet C, Brichet O, Mozelle-Nivoix M, Sabouraud P, Golovkine N, Bednarek N, Gaillard D, Doco-Fenzy M.

Eur J Hum Genet. 2013 Jun;21(6):602-12. doi: 10.1038/ejhg.2012.230. Epub 2012 Oct 17.

PMID:
23073310
[PubMed - indexed for MEDLINE]
Free PMC Article
16.

Constitutional deletion of chromosome 20q in two patients affected with albright hereditary osteodystrophy.

Aldred MA, Aftimos S, Hall C, Waters KS, Thakker RV, Trembath RC, Brueton L.

Am J Med Genet. 2002 Nov 22;113(2):167-72.

PMID:
12407707
[PubMed - indexed for MEDLINE]
17.

2q31.2q32.3 deletion syndrome: report of an adult patient.

Prontera P, Bernardini L, Stangoni G, Capalbo A, Rogaia D, Ardisia C, Novelli A, Dallapiccola B, Donti E.

Am J Med Genet A. 2009 Feb 15;149A(4):706-12. doi: 10.1002/ajmg.a.32688.

PMID:
19248183
[PubMed - indexed for MEDLINE]
18.

Split hand/split foot malformation, deafness, and mental retardation with a complex cytogenetic rearrangement involving 7q21.3.

Ignatius J, Knuutila S, Scherer SW, Trask B, Kere J.

J Med Genet. 1996 Jun;33(6):507-10.

PMID:
8782053
[PubMed - indexed for MEDLINE]
Free PMC Article
19.

Split foot and developmental retardation associated with a deletion of three microsatellite markers in 7q21.2-q22.1.

Marinoni JC, Stevenson RE, Evans JP, Geshuri D, Phelan MC, Schwartz CE.

Clin Genet. 1995 Feb;47(2):90-5. Review.

PMID:
7606850
[PubMed - indexed for MEDLINE]
20.

[Clinical manifestation of chromosome 2 long arm terminal deletion--presentation of four cases].

Szczałuba K, Obersztyn E, Ziemkiewicz K, Jamsheer A, Bocian E, Mazurczak T.

Med Wieku Rozwoj. 2007 Jan-Mar;11(1):57-64. Polish.

PMID:
17965466
[PubMed - indexed for MEDLINE]

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