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Items: 1 to 20 of 88

1.

Crouzonodermoskeletal syndrome.

Jeftha A, Stephen L, Morkel JA, Beighton P.

J Clin Pediatr Dent. 2004 Winter;28(2):173-6.

PMID:
14969379
2.

A newborn with acanthosis nigricans: can it be Crouzon syndrome with acanthosis nigricans?

Sharda S, Panigrahi I, Gupta K, Singhi S, Kumar R.

Pediatr Dermatol. 2010 Jan-Feb;27(1):43-7. doi: 10.1111/j.1525-1470.2009.00871.x.

PMID:
20199409
3.

Crouzon with acanthosis nigricans. Further delineation of the syndrome.

Arnaud-López L, Fragoso R, Mantilla-Capacho J, Barros-Núñez P.

Clin Genet. 2007 Nov;72(5):405-10.

PMID:
17935505
4.

Fibroblast growth factor receptor 3 (FGFR3) transmembrane mutation in Crouzon syndrome with acanthosis nigricans.

Meyers GA, Orlow SJ, Munro IR, Przylepa KA, Jabs EW.

Nat Genet. 1995 Dec;11(4):462-4.

PMID:
7493034
5.

Subtle radiographic findings of achondroplasia in patients with Crouzon syndrome with acanthosis nigricans due to an Ala391Glu substitution in FGFR3.

Schweitzer DN, Graham JM Jr, Lachman RS, Jabs EW, Okajima K, Przylepa KA, Shanske A, Chen K, Neidich JA, Wilcox WR.

Am J Med Genet. 2001 Jan 1;98(1):75-91.

PMID:
11426459
6.

A recurrent mutation, ala391glu, in the transmembrane region of FGFR3 causes Crouzon syndrome and acanthosis nigricans.

Wilkes D, Rutland P, Pulleyn LJ, Reardon W, Moss C, Ellis JP, Winter RM, Malcolm S.

J Med Genet. 1996 Sep;33(9):744-8.

7.
8.

Familial acanthosis nigricans due to K650T FGFR3 mutation.

Berk DR, Spector EB, Bayliss SJ.

Arch Dermatol. 2007 Sep;143(9):1153-6.

PMID:
17875876
9.

[Acanthosis nigricans in children and Crouzon syndrome].

Lagaude M, Barreau M, Jokic M, Gerard M, DiRocco F, Hadj-Rabia S, Dompmartin A, Verneuil L.

Ann Dermatol Venereol. 2014 Nov;141(11):685-8. doi: 10.1016/j.annder.2014.06.020. Epub 2014 Aug 7. French.

PMID:
25442473
10.

Cutaneous features of Crouzon syndrome with acanthosis nigricans.

Mir A, Wu T, Orlow SJ.

JAMA Dermatol. 2013 Jun;149(6):737-41. doi: 10.1001/jamadermatol.2013.3019. Review.

PMID:
23571469
11.

Crouzon syndrome with acanthosis nigricans: a case-based update.

Di Rocco F, Collet C, Legeai-Mallet L, Arnaud E, Le Merrer M, Hadj-Rabia S, Renier D.

Childs Nerv Syst. 2011 Mar;27(3):349-54. doi: 10.1007/s00381-010-1347-z. Epub 2010 Dec 7.

PMID:
21136065
12.

Pregnancy following preimplantation genetic diagnosis for Crouzon syndrome.

Abou-Sleiman PM, Apessos A, Harper JC, Serhal P, Delhanty JD.

Mol Hum Reprod. 2002 Mar;8(3):304-9.

PMID:
11870239
13.

Crouzon syndrome: mutations in two spliceoforms of FGFR2 and a common point mutation shared with Jackson-Weiss syndrome.

Gorry MC, Preston RA, White GJ, Zhang Y, Singhal VK, Losken HW, Parker MG, Nwokoro NA, Post JC, Ehrlich GD.

Hum Mol Genet. 1995 Aug;4(8):1387-90.

PMID:
7581378
14.

[Crouzon's syndrome with acanthosis nigricans].

Lapunzina P, Fernández MC, Varela Junquera JM, Arberas C, Tello AM, Gracia Bouthelier R.

An Esp Pediatr. 2002 Apr;56(4):342-6. Spanish.

PMID:
11927079
15.

An association of acanthosis nigricans and Crouzon syndrome.

Koizumi H, Tomoyori T, Sato KC, Ohkawara A.

J Dermatol. 1992 Feb;19(2):122-6. Review.

PMID:
1377724
16.

Description of a new mutation and characterization of FGFR1, FGFR2, and FGFR3 mutations among Brazilian patients with syndromic craniosynostoses.

Passos-Bueno MR, Sertié AL, Richieri-Costa A, Alonso LG, Zatz M, Alonso N, Brunoni D, Ribeiro SF.

Am J Med Genet. 1998 Jul 7;78(3):237-41.

PMID:
9677057
17.

Crouzon syndrome with acanthosis nigricans: case report and mutational analysis.

Nagase T, Nagase M, Hirose S, Ohmori K.

Cleft Palate Craniofac J. 2000 Jan;37(1):78-82.

PMID:
10670894
18.

Mutations in the fibroblast growth factor receptor 2 gene cause Crouzon syndrome.

Reardon W, Winter RM, Rutland P, Pulleyn LJ, Jones BM, Malcolm S.

Nat Genet. 1994 Sep;8(1):98-103.

PMID:
7987400
19.

Crouzonodermoskeletal Syndrome with Hypoplasia of Corpus Callosum and Inferior Vermis.

Gürbüz F, Ceylaner S, Topaloğlu AK, Yüksel B.

J Clin Res Pediatr Endocrinol. 2016 Sep 1;8(3):373-4. doi: 10.4274/jcrpe.3343. Epub 2016 May 16. No abstract available.

20.

Prenatal exclusion of Crouzon syndrome by mutation analysis of FGFR2.

Phupong V, Srichomthong C, Shotelersuk V.

Southeast Asian J Trop Med Public Health. 2004 Dec;35(4):977-9.

PMID:
15916101

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