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Items: 1 to 20 of 102

1.

Hypogonadotropic hypogonadism and cleft lip and palate caused by a balanced translocation producing haploinsufficiency for FGFR1.

Kim HG, Herrick SR, Lemyre E, Kishikawa S, Salisz JA, Seminara S, MacDonald ME, Bruns GA, Morton CC, Quade BJ, Gusella JF.

J Med Genet. 2005 Aug;42(8):666-72. No abstract available.

2.

Novel FGFR1 and KISS1R Mutations in Chinese Kallmann Syndrome Males with Cleft Lip/Palate.

Xu H, Niu Y, Wang T, Liu S, Xu H, Wang S, Liu J, Ye Z.

Biomed Res Int. 2015;2015:649698. doi: 10.1155/2015/649698.

3.

Searching for genes for cleft lip and/or palate based on breakpoint analysis of a balanced translocation t(9;17)(q32;q12).

Machida J, Félix TM, Murray JC, Yoshiura K, Tanemura M, Kamamoto M, Shimozato K, Sonta S, Ono T.

Cleft Palate Craniofac J. 2009 Sep;46(5):532-40. doi: 10.1597/08-047.1.

4.

Characterization of a novel gene disrupted by a balanced chromosomal translocation t(2;19)(q11.2;q13.3) in a family with cleft lip and palate.

Yoshiura K, Machida J, Daack-Hirsch S, Patil SR, Ashworth LK, Hecht JT, Murray JC.

Genomics. 1998 Dec 1;54(2):231-40.

PMID:
9828125
5.

FGFR1 mutations cause Hartsfield syndrome, the unique association of holoprosencephaly and ectrodactyly.

Simonis N, Migeotte I, Lambert N, Perazzolo C, de Silva DC, Dimitrov B, Heinrichs C, Janssens S, Kerr B, Mortier G, Van Vliet G, Lepage P, Casimir G, Abramowicz M, Smits G, Vilain C.

J Med Genet. 2013 Sep;50(9):585-92. doi: 10.1136/jmedgenet-2013-101603.

6.
7.

Mutations in fibroblast growth factor receptor 1 cause Kallmann syndrome with a wide spectrum of reproductive phenotypes.

Pitteloud N, Meysing A, Quinton R, Acierno JS Jr, Dwyer AA, Plummer L, Fliers E, Boepple P, Hayes F, Seminara S, Hughes VA, Ma J, Bouloux P, Mohammadi M, Crowley WF Jr.

Mol Cell Endocrinol. 2006 Jul 25;254-255:60-9.

PMID:
16764984
8.

Clinical assessment and mutation analysis of Kallmann syndrome 1 (KAL1) and fibroblast growth factor receptor 1 (FGFR1, or KAL2) in five families and 18 sporadic patients.

Sato N, Katsumata N, Kagami M, Hasegawa T, Hori N, Kawakita S, Minowada S, Shimotsuka A, Shishiba Y, Yokozawa M, Yasuda T, Nagasaki K, Hasegawa D, Hasegawa Y, Tachibana K, Naiki Y, Horikawa R, Tanaka T, Ogata T.

J Clin Endocrinol Metab. 2004 Mar;89(3):1079-88.

PMID:
15001591
9.

Paediatric phenotype of Kallmann syndrome due to mutations of fibroblast growth factor receptor 1 (FGFR1).

Zenaty D, Bretones P, Lambe C, Guemas I, David M, Léger J, de Roux N.

Mol Cell Endocrinol. 2006 Jul 25;254-255:78-83.

PMID:
16757108
10.

Correlation of the SNPs of FGFR1, FGF10, FGF18 with nonsyndromic cleft lip with or without palate in Chinese population.

Wan WD, Yang SL, Liu JY, Cui YG, Zhou XP, Guo FF, Cheng HY, Cheng L, Xiao PF, Lu ZH.

Beijing Da Xue Xue Bao. 2009 Aug 18;41(4):409-13.

11.

Evidence of a locus for orofacial clefting on human chromosome 6p24 and STS content map of the region.

Davies AF, Stephens RJ, Olavesen MG, Heather L, Dixon MJ, Magee A, Flinter F, Ragoussis J.

Hum Mol Genet. 1995 Jan;4(1):121-8.

PMID:
7711723
12.

A genome-wide linkage scan for cleft lip and cleft palate identifies a novel locus on 8p11-23.

Riley BM, Schultz RE, Cooper ME, Goldstein-McHenry T, Daack-Hirsch S, Lee KT, Dragan E, Vieira AR, Lidral AC, Marazita ML, Murray JC.

Am J Med Genet A. 2007 Apr 15;143A(8):846-52.

13.

Novel FGFR1 mutations in Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism: evidence for the involvement of an alternatively spliced isoform.

Gonçalves C, Bastos M, Pignatelli D, Borges T, Aragüés JM, Fonseca F, Pereira BD, Socorro S, Lemos MC.

Fertil Steril. 2015 Nov;104(5):1261-7.e1. doi: 10.1016/j.fertnstert.2015.07.1142.

PMID:
26277103
14.

Dental agenesis in Kallmann syndrome individuals with FGFR1 mutations.

Bailleul-Forestier I, Gros C, Zenaty D, Bennaceur S, Leger J, de Roux N.

Int J Paediatr Dent. 2010 Jul;20(4):305-12. doi: 10.1111/j.1365-263X.2010.01056.x.

PMID:
20536592
15.

Searching for genes for cleft lip and/or palate based on breakpoint analysis of a balanced translocation t(9;17)(q32;q12). Letter.

Balci S, Aypar E, Engiz O.

Cleft Palate Craniofac J. 2010 Jul;47(4):431-2. No abstract available.

PMID:
20163253
16.
17.

Association of autosomal dominant cleft lip and palate and translocation 6p23;9q22.3.

Donnai D, Heather LJ, Sinclair P, Thakker Y, Scambler PJ, Dixon MJ.

Clin Dysmorphol. 1992 Apr;1(2):89-97.

PMID:
1345518
18.

Mutation analyses in pedigrees and sporadic cases of ethnic Han Chinese Kallmann syndrome patients.

Gu WJ, Zhang Q, Wang YQ, Yang GQ, Hong TP, Zhu DL, Yang JK, Ning G, Jin N, Chen K, Zang L, Wang AP, Du J, Wang XL, Yang LJ, Ba JM, Lv ZH, Dou JT, Mu YM.

Exp Biol Med (Maywood). 2015 Nov;240(11):1480-9. doi: 10.1177/1535370215587531.

19.

Deletion of the proximal short arm of chromosome 8.

Stratton RF, Crudo DF, Varela M, Shapira E.

Am J Med Genet. 1992 Jan 1;42(1):15-8.

PMID:
1308359
20.

Identification of novel candidate genes associated with cleft lip and palate using array comparative genomic hybridisation.

Osoegawa K, Vessere GM, Utami KH, Mansilla MA, Johnson MK, Riley BM, L'Heureux J, Pfundt R, Staaf J, van der Vliet WA, Lidral AC, Schoenmakers EF, Borg A, Schutte BC, Lammer EJ, Murray JC, de Jong PJ.

J Med Genet. 2008 Feb;45(2):81-6.

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