Format
Items per page
Sort by

Send to:

Choose Destination

Links from PubMed

Items: 1 to 20 of 30

1.

Robinow syndrome.

Patton MA, Afzal AR.

J Med Genet. 2002 May;39(5):305-10. Review.

2.
3.

[The Robinow syndrome: a report of a family with autosomal dominant transmission].

Díaz López MT, Lorenzo Sanz G, Quintana Castilla A, Esteve de Pablo C, Aparicio Meix JM.

An Esp Pediatr. 1996 May;44(5):520-3. Review. Spanish. No abstract available.

PMID:
8928981
4.

Robinow syndrome: report of two patients and review of literature.

Butler MG, Wadlington WB.

Clin Genet. 1987 Feb;31(2):77-85. Review.

PMID:
3549067
5.

The Robinow (fetal face) syndrome: a continuing puzzle.

Robinow M.

Clin Dysmorphol. 1993 Jul;2(3):189-98. Review.

PMID:
8287180
6.

Mesomelic dysplasia with absence of fibulae and hexadactyly: Nievergelt syndrome or new syndrome?

Petrella R, Ludman MD, Rabinowitz JG, Gilbert F, Hirschhorn K.

Am J Med Genet. 1990 Sep;37(1):10-4. Review.

PMID:
2240023
7.

Pseudodiastrophic dysplasia evolution with age and management. Report of two new cases and review of the literature.

Canki-Klain N, Stanescu V, Bebler P, Maroteaux P.

Ann Genet. 1990;33(3):129-36. Review.

PMID:
2288456
8.

Familial cerebro-costo-mandibular syndrome: a case with unusual prenatal findings and review.

James PA, Aftimos S.

Clin Dysmorphol. 2003 Jan;12(1):63-8. Review.

PMID:
12514369
9.

Omodysplasia: an affected mother and son.

Venditti CP, Farmer J, Russell KL, Friedrich CA, Alter C, Canning D, Whitaker L, Mennuti MT, Driscoll DA, Zackai EH.

Am J Med Genet. 2002 Aug 1;111(2):169-77. Review.

PMID:
12210345
10.

ROR2-Related Robinow Syndrome.

Bacino C.

In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Fong CT, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2016.
2005 Jul 28 [updated 2011 Aug 25].

11.

Clinical homogeneity and genetic heterogeneity in Weill-Marchesani syndrome.

Faivre L, Dollfus H, Lyonnet S, Alembik Y, Mégarbané A, Samples J, Gorlin RJ, Alswaid A, Feingold J, Le Merrer M, Munnich A, Cormier-Daire V.

Am J Med Genet A. 2003 Dec 1;123A(2):204-7. Review.

PMID:
14598350
12.

Costello syndrome: phenotype, natural history, differential diagnosis, and possible cause.

Johnson JP, Golabi M, Norton ME, Rosenblatt RM, Feldman GM, Yang SP, Hall BD, Fries MH, Carey JC.

J Pediatr. 1998 Sep;133(3):441-8. Review.

PMID:
9738731
13.

Autosomal recessive omodysplasia.

Stoll C, Pennerath A, Poirat P.

Ann Genet. 1995;38(2):97-101. Review.

PMID:
7486832
14.

Pathological features and prenatal diagnosis in the newly recognised limb/pelvis-hypoplasia/aplasia syndrome.

Raas-Rothschild A, Goodman RM, Meyer S, Katznelson MB, Winter ST, Gross E, Tamarkin M, Ben-Ami T, Nebel L, Mashiach S.

J Med Genet. 1988 Oct;25(10):687-97. Review.

15.

The molecular genetic basis and diagnosis of familial hypercholesterolemia in Denmark.

Jensen HK.

Dan Med Bull. 2002 Nov;49(4):318-45. Review.

PMID:
12553167
16.

De Barsy syndrome: a review of the phenotype.

Kivuva EC, Parker MJ, Cohen MC, Wagner BE, Sobey G.

Clin Dysmorphol. 2008 Apr;17(2):99-107. doi: 10.1097/MCD.0b013e3282f4a964. Review.

PMID:
18388779
17.

SAMS, a syndrome of short stature, auditory-canal atresia, mandibular hypoplasia, and skeletal abnormalities is a unique neurocristopathy caused by mutations in Goosecoid.

Parry DA, Logan CV, Stegmann AP, Abdelhamed ZA, Calder A, Khan S, Bonthron DT, Clowes V, Sheridan E, Ghali N, Chudley AE, Dobbie A, Stumpel CT, Johnson CA.

Am J Hum Genet. 2013 Dec 5;93(6):1135-42. doi: 10.1016/j.ajhg.2013.10.027. Epub 2013 Nov 27. Review.

18.

Femoral hypoplasia-unusual facies syndrome with bifid hallux, absent tibia, and macrophallus: a report of a Bedouin baby.

Sabry MA, Obenbergerova D, Al-Sawan R, Saleh QA, Farah S, Al-Awadi SA, Farag TI.

J Med Genet. 1996 Feb;33(2):165-7. Review.

19.

[The Silver-Russel syndrome].

Sarotti M, Zilocchi C, Bianchi P, Faraci C, Marenzi C, Martinelli D, Escobar R.

Pediatr Med Chir. 1992 Mar-Apr;14(2):227-30. Review. Italian.

PMID:
1508761
20.

[Robinow syndrome].

Kawame H.

Ryoikibetsu Shokogun Shirizu. 2000;(30 Pt 5):236-7. Review. Japanese. No abstract available.

PMID:
11057211
Format
Items per page
Sort by

Send to:

Choose Destination

Supplemental Content

Write to the Help Desk