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Items: 1 to 20 of 175

1.

A novel phenotype characterized by digital abnormalities, intellectual disability, and short stature in a Mexican family maps to Xp11.4-p11.21.

Barboza-Cerda MC, Campos-Acevedo LD, Rangel R, Martínez-de-Villarreal LE, Déctor MA.

Am J Med Genet A. 2013 Feb;161A(2):237-43. doi: 10.1002/ajmg.a.35743. Epub 2013 Jan 10.

PMID:
23307567
2.

Duplication of the Xq27.3-q28 region, including the FMR1 gene, in an X-linked hypogonadism, gynecomastia, intellectual disability, short stature, and obesity syndrome.

Hickey SE, Walters-Sen L, Mosher TM, Pfau RB, Pyatt R, Snyder PJ, Sotos JF, Prior TW.

Am J Med Genet A. 2013 Sep;161A(9):2294-9. doi: 10.1002/ajmg.a.36034. Epub 2013 Jul 29.

PMID:
23897859
3.

Genetic heterogeneity of FG syndrome: a fourth locus (FGS4) maps to Xp11.4-p11.3 in an Italian family.

Piluso G, Carella M, D'Avanzo M, Santinelli R, Carrano EM, D'Avanzo A, D'Adamo AP, Gasparini P, Nigro V.

Hum Genet. 2003 Feb;112(2):124-30. Epub 2002 Nov 13.

PMID:
12522552
4.
5.

Novel X-linked mental retardation syndrome with short stature maps to Xq24.

Vitale E, Specchia C, Devoto M, Angius A, Rong S, Rocchi M, Schwalb M, Demelas L, Paglietti D, Manca S, Mastropaolo C, Serra G.

Am J Med Genet. 2001 Sep 15;103(1):1-8.

PMID:
11562927
6.

Keipert syndrome (Nasodigitoacoustic syndrome) is X-linked and maps to Xq22.2-Xq28.

Amor DJ, Dahl HH, Bahlo M, Bankier A.

Am J Med Genet A. 2007 Oct 1;143A(19):2236-41.

PMID:
17726694
7.

X-linked congenital ptosis and associated intellectual disability, short stature, microcephaly, cleft palate, digital and genital abnormalities define novel Xq25q26 duplication syndrome.

Møller RS, Jensen LR, Maas SM, Filmus J, Capurro M, Hansen C, Marcelis CL, Ravn K, Andrieux J, Mathieu M, Kirchhoff M, Rødningen OK, de Leeuw N, Yntema HG, Froyen G, Vandewalle J, Ballon K, Klopocki E, Joss S, Tolmie J, Knegt AC, Lund AM, Hjalgrim H, Kuss AW, Tommerup N, Ullmann R, de Brouwer AP, Strømme P, Kjaergaard S, Tümer Z, Kleefstra T.

Hum Genet. 2014 May;133(5):625-38. doi: 10.1007/s00439-013-1403-3. Epub 2013 Dec 11.

PMID:
24326587
8.
9.
10.

Int22h-1/int22h-2-mediated Xq28 rearrangements: intellectual disability associated with duplications and in utero male lethality with deletions.

El-Hattab AW, Fang P, Jin W, Hughes JR, Gibson JB, Patel GS, Grange DK, Manwaring LP, Patel A, Stankiewicz P, Cheung SW.

J Med Genet. 2011 Dec;48(12):840-50. doi: 10.1136/jmedgenet-2011-100125. Epub 2011 Oct 8.

11.

A novel dysmorphic syndrome with open calvarial sutures and sutural cataracts maps to chromosome 14q13-q21.

Boyadjiev SA, Justice CM, Eyaid W, McKusick VA, Lachman RS, Chowdry AB, Jabak M, Zwaan J, Wilson AF, Jabs EW.

Hum Genet. 2003 Jul;113(1):1-9. Epub 2003 Apr 3.

PMID:
12677423
12.

Börjeson-Forssman-Lehmann syndrome: clinical manifestations and gene localization to Xq26-27.

Turner G, Gedeon A, Mulley J, Sutherland G, Rae J, Power K, Arthur I.

Am J Med Genet. 1989 Dec;34(4):463-9.

PMID:
2624253
13.

Intellectual disability, unusual facial morphology and hand anomalies in sibs.

Sousa SB, Venâncio M, Chanudet E, Palmer R, Ramos L, Beales PL, Moore GE, Saraiva JM, Hennekam RC.

Am J Med Genet A. 2013 Oct;161A(10):2401-6. doi: 10.1002/ajmg.a.36124. Epub 2013 Aug 15.

PMID:
23949889
14.

A locus for brachydactyly type A-1 maps to chromosome 2q35-q36.

Yang X, She C, Guo J, Yu AC, Lu Y, Shi X, Feng G, He L.

Am J Hum Genet. 2000 Mar;66(3):892-903.

15.

The missing "link": an autosomal recessive short stature syndrome caused by a hypofunctional XYLT1 mutation.

Schreml J, Durmaz B, Cogulu O, Keupp K, Beleggia F, Pohl E, Milz E, Coker M, Ucar SK, Nürnberg G, Nürnberg P, Kuhn J, Ozkinay F.

Hum Genet. 2014 Jan;133(1):29-39. doi: 10.1007/s00439-013-1351-y. Epub 2013 Aug 27.

PMID:
23982343
16.

The incidence of hypoplasia of the corpus callosum in patients with dup (X)(q28) involving MECP2 is associated with the location of distal breakpoints.

Honda S, Hayashi S, Nakane T, Imoto I, Kurosawa K, Mizuno S, Okamoto N, Kato M, Yoshihashi H, Kubota T, Nakagawa E, Goto Y, Inazawa J.

Am J Med Genet A. 2012 Jun;158A(6):1292-303. doi: 10.1002/ajmg.a.35321. Epub 2012 Apr 23.

PMID:
22528406
17.

A new syndrome of dwarfism, brachydactyly, nail dysplasia, and mental retardation in sibs.

Tonoki H, Kishino T, Niikawa N.

Am J Med Genet. 1990 May;36(1):89-93.

PMID:
2333912
18.

A unique form of mental retardation with a distinctive phenotype maps to Xq26-q27.

Shashi V, Berry MN, Shoaf S, Sciote JJ, Goldstein D, Hart TC.

Am J Hum Genet. 2000 Feb;66(2):469-79. Erratum in: Am J Hum Genet 2000 Apr;66(4):1472.

19.

Missense variant in CCDC22 causes X-linked recessive intellectual disability with features of Ritscher-Schinzel/3C syndrome.

Kolanczyk M, Krawitz P, Hecht J, Hupalowska A, Miaczynska M, Marschner K, Schlack C, Emmerich D, Kobus K, Kornak U, Robinson PN, Plecko B, Grangl G, Uhrig S, Mundlos S, Horn D.

Eur J Hum Genet. 2015 May;23(5):633-8. doi: 10.1038/ejhg.2014.109. Epub 2014 Jun 11. Erratum in: Eur J Hum Genet. 2015 May;23(5):720.

20.

Autism-associated familial microdeletion of Xp11.22.

Qiao Y, Liu X, Harvard C, Hildebrand MJ, Rajcan-Separovic E, Holden JJ, Lewis ME.

Clin Genet. 2008 Aug;74(2):134-44. doi: 10.1111/j.1399-0004.2008.01028.x. Epub 2008 May 21.

PMID:
18498374
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