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Items: 1 to 20 of 240

1.

Phenotypic overlap in Melnick-Needles, serpentine fibula-polycystic kidney and Hajdu-Cheney syndromes: a clinical and molecular study in three patients.

Albano LM, Bertola DR, Barba MF, Valente M, Robertson SP, Kim CA.

Clin Dysmorphol. 2007 Jan;16(1):27-33.

PMID:
17159511
2.

Serpentine fibula-polycystic kidney syndrome caused by truncating mutations in NOTCH2.

Isidor B, Le Merrer M, Exner GU, Pichon O, Thierry G, Guiochon-Mantel A, David A, Cormier-Daire V, Le Caignec C.

Hum Mutat. 2011 Nov;32(11):1239-42. doi: 10.1002/humu.21563. Epub 2011 Sep 12.

PMID:
21793104
3.

Mutational analysis of two boys with the severe perinatally lethal Melnick-Needles syndrome.

Santos HH, Garcia PP, Pereira L, Leão LL, Aguiar RA, Lana AM, Carvalho MR, Aguiar MJ.

Am J Med Genet A. 2010 Mar;152A(3):726-31. doi: 10.1002/ajmg.a.33260.

PMID:
20186808
4.

Serpentine fibula polycystic kidney syndrome is part of the phenotypic spectrum of Hajdu-Cheney syndrome.

Gray MJ, Kim CA, Bertola DR, Arantes PR, Stewart H, Simpson MA, Irving MD, Robertson SP.

Eur J Hum Genet. 2012 Jan;20(1):122-4. doi: 10.1038/ejhg.2011.125. Epub 2011 Jun 29.

5.

Postzygotic mutation and germline mosaicism in the otopalatodigital syndrome spectrum disorders.

Robertson SP, Thompson S, Morgan T, Holder-Espinasse M, Martinot-Duquenoy V, Wilkie AO, Manouvrier-Hanu S.

Eur J Hum Genet. 2006 May;14(5):549-54.

6.

A novel NOTCH2 mutation identified in a Korean family with Hajdu-Cheney syndrome showing phenotypic diversity.

Han MS, Ko JM, Cho TJ, Park WY, Cheong HI.

Ann Clin Lab Sci. 2015 Winter;45(1):110-4.

PMID:
25696021
8.

Further evidence that the Hajdu-Cheney syndrome and the "serpentine fibula-polycystic kidney syndrome" are a single entity.

Ramos FJ, Kaplan BS, Bellah RD, Zackai EH, Kaplan P.

Am J Med Genet. 1998 Aug 6;78(5):474-81.

PMID:
9714016
9.

Prenatal and postnatal findings in serpentine fibula polycystic kidney syndrome and a review of the NOTCH2 spectrum disorders.

Martin BM, Ivanova MH, Sarukhanov A, Kim A, Power P, Pugash D, Popescu OE, Lachman RS, Krakow D, Patel MS.

Am J Med Genet A. 2014 Oct;164A(10):2490-5. doi: 10.1002/ajmg.a.36656. Epub 2014 Jul 3.

PMID:
24995648
10.

Hajdu-Cheney syndrome associated with serpentine fibulae and polycystic kidney disease.

Currarino G.

Pediatr Radiol. 2009 Jan;39(1):47-52. doi: 10.1007/s00247-008-0992-9. Epub 2008 Sep 25. Review.

PMID:
18815778
11.

Hajdu-Cheney syndrome: report of a case.

Ellison DA, Ellis EN, Kokoska ER.

Pediatr Dev Pathol. 2007 Nov-Dec;10(6):470-6.

PMID:
18001156
12.

Otopalatodigital syndrome type 2 in two siblings with a novel filamin A 629G>T mutation: clinical, pathological, and molecular findings.

Mariño-Enríquez A, Lapunzina P, Robertson SP, Rodríguez JI.

Am J Med Genet A. 2007 May 15;143A(10):1120-5.

PMID:
17431908
13.

A novel filamin A D203Y mutation in a female patient with otopalatodigital type 1 syndrome and extremely skewed X chromosome inactivation.

Hidalgo-Bravo A, Pompa-Mera EN, Kofman-Alfaro S, Gonzalez-Bonilla CR, Zenteno JC.

Am J Med Genet A. 2005 Jul 15;136(2):190-3.

PMID:
15940695
14.

Clinical consequences in truncating mutations in exon 34 of NOTCH2: report of six patients with Hajdu-Cheney syndrome and a patient with serpentine fibula polycystic kidney syndrome.

Narumi Y, Min BJ, Shimizu K, Kazukawa I, Sameshima K, Nakamura K, Kosho T, Rhee Y, Chung YS, Kim OH, Fukushima Y, Park WY, Nishimura G.

Am J Med Genet A. 2013 Mar;161A(3):518-26. doi: 10.1002/ajmg.a.35772. Epub 2013 Feb 7. Erratum in: Am J Med Genet A. 2013 Oct;161(10):2685.

PMID:
23401378
15.

Phenotypic variation in Melnick-Needles syndrome is not reflected in X inactivation patterns from blood or buccal smear.

Kristiansen M, Knudsen GP, Søyland A, Westvik J, Ørstavik KH.

Am J Med Genet. 2002 Mar 1;108(2):120-7.

PMID:
11857561
16.

Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans.

Robertson SP, Twigg SR, Sutherland-Smith AJ, Biancalana V, Gorlin RJ, Horn D, Kenwrick SJ, Kim CA, Morava E, Newbury-Ecob R, Orstavik KH, Quarrell OW, Schwartz CE, Shears DJ, Suri M, Kendrick-Jones J, Wilkie AO; OPD-spectrum Disorders Clinical Collaborative Group.

Nat Genet. 2003 Apr;33(4):487-91. Epub 2003 Mar 3.

PMID:
12612583
17.

Genotype-epigenotype-phenotype correlations in females with frontometaphyseal dysplasia.

Zenker M, Nährlich L, Sticht H, Reis A, Horn D.

Am J Med Genet A. 2006 May 15;140(10):1069-73.

PMID:
16596676
18.

Serpentine fibula--polycystic kidney syndrome and Melnick-Needles syndrome are different disorders.

Majewski F, Enders H, Ranke MB, Voit T.

Eur J Pediatr. 1993 Nov;152(11):916-21.

PMID:
8276023
19.

Periventricular heterotopia: phenotypic heterogeneity and correlation with Filamin A mutations.

Parrini E, Ramazzotti A, Dobyns WB, Mei D, Moro F, Veggiotti P, Marini C, Brilstra EH, Dalla Bernardina B, Goodwin L, Bodell A, Jones MC, Nangeroni M, Palmeri S, Said E, Sander JW, Striano P, Takahashi Y, Van Maldergem L, Leonardi G, Wright M, Walsh CA, Guerrini R.

Brain. 2006 Jul;129(Pt 7):1892-906. Epub 2006 May 9.

PMID:
16684786
20.

[Hajdu-Cheney Syndrome: a case of acroosteolysis].

Cunha I, Saavedra MJ, Oliveira MA, Salvador MJ, Malcata A.

Acta Reumatol Port. 2007 Apr-Jun;32(2):169-74. Portuguese.

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