Literature DB >> 1860258

IBM-PC compatible software for establishing metacarpophalangeal pattern profiles.

D Hosenfeld1, F Hosenfeld, E Schaefer, W Grote.   

Abstract

We briefly present software for performing metacarpophalangeal pattern (MCPP) profile analysis, which runs on generally available low-cost IBM (PC, XT, AT) and compatible PCs. The program is easy for the medical geneticist to handle and apply. We compared the mean MCPP of our own patients with Ullrich-Turner syndrome with the mean MCPP for Ullrich-Turner patients originally published by Poznanski.

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Year:  1991        PMID： 1860258     DOI： 10.1111/j.1399-0004.1991.tb03049.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


  4 in total

1.  A molecular and clinical study of Larsen syndrome caused by mutations in FLNB.

Authors:  Louise S Bicknell; Claire Farrington-Rock; Yousef Shafeghati; Patrick Rump; Yasemin Alanay; Yves Alembik; Navid Al-Madani; Helen Firth; Mohammad Hassan Karimi-Nejad; Chong Ae Kim; Kathryn Leask; Melissa Maisenbacher; Ellen Moran; John G Pappas; Paolo Prontera; Thomy de Ravel; Jean-Pierre Fryns; Elizabeth Sweeney; Alan Fryer; Sheila Unger; L C Wilson; Ralph S Lachman; David L Rimoin; Daniel H Cohn; Deborah Krakow; Stephen P Robertson
Journal:  J Med Genet       Date:  2006-06-26       Impact factor: 6.318

2.  Genotypic and phenotypic spectrum in tricho-rhino-phalangeal syndrome types I and III.

Authors:  H J Lüdecke; J Schaper; P Meinecke; P Momeni; S Gross; H Hirche; M J Abramowicz; B Albrecht; C Apacik; H J Christen; U Claussen; K Devriendt; E Fastnacht; A Forderer; U Friedrich; T H Goodship; M Greiwe; H Hamm; R C Hennekam; G K Hinkel; M Hoeltzenbein; H Kayserili; F Majewski; M Mathieu; R McLeod; A T Midro; U Moog; T Nagai; N Niikawa; K H Orstavik; E Plöchl; C Seitz; J Schmidtke; L Tranebjaerg; M Tsukahara; B Wittwer; B Zabel; G Gillessen-Kaesbach; B Horsthemke
Journal:  Am J Hum Genet       Date:  2000-12-07       Impact factor: 11.025

Review 3.  Mulvihill-Smith syndrome: case report and review.

Authors:  O Bartsch; K D Tympner; E Schwinger; R J Gorlin
Journal:  J Med Genet       Date:  1994-09       Impact factor: 6.318

4.  Two novel disease-causing variants in BMPR1B are associated with brachydactyly type A1.

Authors:  Lemuel Racacho; Ashley M Byrnes; Heather MacDonald; Helen J Dranse; Sarah M Nikkel; Judith Allanson; Elisabeth Rosser; T Michael Underhill; Dennis E Bulman
Journal:  Eur J Hum Genet       Date:  2015-03-11       Impact factor: 4.246
  4 in total

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