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Results: 1 to 20 of 172

1.

A distinctive autosomal recessive syndrome of severe disproportionate short stature with short long bones, brachydactyly, and hypotrichosis in two consanguineous Arab families.

Shalev SA, Spiegel R, Borochowitz ZU.

Eur J Med Genet. 2012 Apr;55(4):256-64. doi: 10.1016/j.ejmg.2012.02.011. Epub 2012 Mar 3.

PMID:
22440536
[PubMed - indexed for MEDLINE]
2.

Distinct, autosomal recessive form of spondyloepimetaphyseal dysplasia segregating in an inbred Pakistani kindred.

Ahmad M, Faiyaz Ul Haque M, Ahmad W, Abbas H, Haque S, Krakow D, Rimoin DL, Lachman RS, Cohn DH.

Am J Med Genet. 1998 Aug 6;78(5):468-73.

PMID:
9714015
[PubMed - indexed for MEDLINE]
3.

Short trunk stature, brachydactyly, and platyspondyly in three sibs: a new form of brachyolmia or a new skeletal dysplasia?

Tüysüz B, Ungür S.

Am J Med Genet A. 2003 Jun 15;119A(3):375-80.

PMID:
12784309
[PubMed - indexed for MEDLINE]
4.

Autosomal recessive Silver-Russell syndrome.

Teebi AS.

Clin Dysmorphol. 1992 Jul;1(3):151-6.

PMID:
1285272
[PubMed - indexed for MEDLINE]
5.

A new autosomal recessive syndrome characterized by ocular hypertelorism, distinctive face, mental retardation, brachydactyly, and genital abnormalities.

Spiegel R, Horovitz Y, Peters H, Erdogan F, Chervinsky I, Shalev SA.

Am J Med Genet A. 2009 Dec;149A(12):2655-60. doi: 10.1002/ajmg.a.33127.

PMID:
19938075
[PubMed - indexed for MEDLINE]
6.

Digenic inheritance of an autosomal recessive hypotrichosis in two consanguineous pedigrees.

Basit S, Wali A, Aziz A, Muhammad N, Jelani M, Ahmad W.

Clin Genet. 2011 Mar;79(3):273-81. doi: 10.1111/j.1399-0004.2010.01455.x.

PMID:
20528890
[PubMed - indexed for MEDLINE]
7.
8.

Spondylo-meta-epiphyseal dysplasia (SMED), short limb-hand type: a congenital familial skeletal dysplasia with distinctive features and histopathology.

Borochowitz Z, Langer LO Jr, Gruber HE, Lachman R, Katznelson MB, Rimoin DL.

Am J Med Genet. 1993 Feb 1;45(3):320-6.

PMID:
8434618
[PubMed - indexed for MEDLINE]
9.

Mutations in the LPAR6 and LIPH genes underlie autosomal recessive hypotrichosis/woolly hair in 17 consanguineous families from Pakistan.

Khan S, Habib R, Mir H, Umm-e-Kalsoom, Naz G, Ayub M, Shafique S, Yamin T, Ali N, Basit S, Wasif N, Kamran-Ul-Hassan Naqvi S, Ali G, Wali A, Ansar M, Ahmad W.

Clin Exp Dermatol. 2011 Aug;36(6):652-4. doi: 10.1111/j.1365-2230.2011.04014.x. Epub 2011 Mar 21.

PMID:
21426374
[PubMed - indexed for MEDLINE]
10.

Spondyloepiphyseal dysplasia Omani type: a new recessive type of SED with progressive spinal involvement.

Rajab A, Kunze J, Mundlos S.

Am J Med Genet A. 2004 May 1;126A(4):413-9.

PMID:
15098240
[PubMed - indexed for MEDLINE]
11.

Short stature, Robin sequence, cleft mandible, pre/postaxial hand anomalies, and clubfoot: a new autosomal recessive syndrome.

Richieri-Costa A, Pereira SC.

Am J Med Genet. 1992 Mar 1;42(5):681-7.

PMID:
1632438
[PubMed - indexed for MEDLINE]
12.

Trichorhinophalangeal syndrome type III.

Itin PH, Bohn S, Mathys D, Guggenheim R, Richard G.

Dermatology. 1996;193(4):349-52. Review.

PMID:
8993967
[PubMed - indexed for MEDLINE]
13.

SED-brachydactyly and distinctive speech: report of two new cases.

García-Cruz D, Zafra de la Rosa GF, Sánchez-Corona J, Nazará Z, López-Cardona MG, García-Ortiz JE, Corona-Rivera JR, Cantú JM.

Genet Couns. 2007;18(1):85-97.

PMID:
17515304
[PubMed - indexed for MEDLINE]
14.

Brachydactyly-short stature-hypertension (Bilginturan) syndrome: report on two families.

Chitayat D, Grix A, Balfe JW, Abramowicz JS, Garza J, Fong CT, Silver MM, Saller DN Jr, Bresnick GH, Giedion A, Lachman RS, Rimoin DL.

Am J Med Genet. 1997 Dec 19;73(3):279-85.

PMID:
9415685
[PubMed - indexed for MEDLINE]
15.

Dwarfism with gloomy face: a new syndrome with features of 3-M syndrome.

Le Merrer M, Brauner R, Maroteaux P.

J Med Genet. 1991 Mar;28(3):186-91.

PMID:
2051454
[PubMed - indexed for MEDLINE]
Free PMC Article
16.

A syndrome characterized by contractures and pterygia of upper body associated with umbilical hernia, short stature, and distinctive face in an Arabic family.

Shalev SA, Spiegel R, Hall JG.

Am J Med Genet A. 2005 Oct 15;138A(3):236-40.

PMID:
16158430
[PubMed - indexed for MEDLINE]
17.

Short stature, brachydactyly, and Peters' anomaly (Peters'-plus syndrome): confirmation of autosomal recessive inheritance.

de Almeida JC, Reis DF, Llerena Júnior J, Barbosa Neto J, Pontes RL, Middleton S, Telles LF.

J Med Genet. 1991 Apr;28(4):277-9.

PMID:
1856836
[PubMed - indexed for MEDLINE]
Free PMC Article
18.

Autosomal recessive ichthyosis with hypotrichosis syndrome: further delineation of the phenotype.

Avrahami L, Maas S, Pasmanik-Chor M, Rainshtein L, Magal N, Smitt J, van Marle J, Shohat M, Basel-Vanagaite L.

Clin Genet. 2008 Jul;74(1):47-53. doi: 10.1111/j.1399-0004.2008.01006.x. Epub 2008 Apr 28.

PMID:
18445049
[PubMed - indexed for MEDLINE]
19.

Localization of a novel autosomal recessive hypotrichosis locus (LAH3) to chromosome 13q14.11-q21.32.

Wali A, Chishti M, Ayub M, Yasinzai M, Kafaitullah, Ali G, John P, Ahmad W.

Clin Genet. 2007 Jul;72(1):23-9.

PMID:
17594396
[PubMed - indexed for MEDLINE]
20.

A distinct autosomal recessive disorder of limb development with preaxial brachydactyly, phalangeal duplication, symphalangism and hyperphalangism.

Race H, Hall CM, Harrison MG, Quarrell OW, Wakeling EL.

Clin Dysmorphol. 2010 Jan;19(1):23-7. doi: 10.1097/MCD.0b013e328334557e.

PMID:
19952732
[PubMed - indexed for MEDLINE]

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