Literature DB >> 9042935

Deletion at 12p in a Japanese child with brachydactyly overlaps the assigned locus of brachydactyly with hypertension in a Turkish family.

S Bähring, T Nagai, H R Toka, I Nitz, O Toka, A Aydin, A Mühl, T F Wienker, H Schuster, F C Luft.   

Abstract

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Year:  1997        PMID： 9042935      PMCID： PMC1712511     

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN： 0002-9297            Impact factor:   11.025


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  8 in total

1.  Application of automated DNA sizing technology for genotyping microsatellite loci.

Authors:  J S Ziegle; Y Su; K P Corcoran; L Nie; P E Mayrand; L B Hoff; L J McBride; M N Kronick; S R Diehl
Journal:  Genomics       Date:  1992-12       Impact factor: 5.736

Review 2.  Defects in G protein-coupled signal transduction in human disease.

Authors:  A M Spiegel
Journal:  Annu Rev Physiol       Date:  1996       Impact factor: 19.318

3.  Severe autosomal dominant hypertension and brachydactyly in a unique Turkish kindred maps to human chromosome 12.

Authors:  H Schuster; T E Wienker; S Bähring; N Bilginturan; H R Toka; H Neitzel; E Jeschke; O Toka; D Gilbert; A Lowe; J Ott; H Haller; F C Luft
Journal:  Nat Genet       Date:  1996-05       Impact factor: 38.330

4.  Metacarpophalangeal pattern profiles in the evaluation of skeletal malformations.

Authors:  A K Poznanski; S M Garn; J M Nagy; J C Gall
Journal:  Radiology       Date:  1972-07       Impact factor: 11.105

5.  Hereditary brachydactyly associated with hypertension.

Authors:  N Bilginturan; S Zileli; S Karacadag; T Pirnar
Journal:  J Med Genet       Date:  1973-09       Impact factor: 6.318

6.  Metacarpophalangeal length in the evaluation of skeletal malformation.

Authors:  S M Garn; K P Hertzog; A K Poznanski; J M Nagy
Journal:  Radiology       Date:  1972-11       Impact factor: 11.105

Review 7.  The molecular basis of genetic dominance.

Authors:  A O Wilkie
Journal:  J Med Genet       Date:  1994-02       Impact factor: 6.318

8.  Del(12)(p11.21p12.2) associated with an asphyxiating thoracic dystrophy or chondroectodermal dysplasia-like syndrome.

Authors:  T Nagai; G Nishimura; R Kato; T Hasegawa; H Ohashi; Y Fukushima
Journal:  Am J Med Genet       Date:  1995-01-02
  8 in total
  10 in total

1.  Deletion and point mutations of PTHLH cause brachydactyly type E.

Authors:  Eva Klopocki; Bianca P Hennig; Katarina Dathe; Randi Koll; Thomy de Ravel; Emiel Baten; Eveline Blom; Yves Gillerot; Johannes F W Weigel; Gabriele Krüger; Olaf Hiort; Petra Seemann; Stefan Mundlos
Journal:  Am J Hum Genet       Date:  2010-02-18       Impact factor: 11.025

Review 2.  Mendelian forms of human hypertension and mechanisms of disease.

Authors:  Friedrich C Luft
Journal:  Clin Med Res       Date:  2003-10

3.  Brachydactyly short-stature hypertension syndrome: a case with associated vascular malformations.

Authors:  Murat Derbent; Esra Baskin; Muhteşem Ağildere; Pinar Isik Agras; Umit Saatçi
Journal:  Pediatr Nephrol       Date:  2005-12-21       Impact factor: 3.714

4.  A PDE3A mutation in familial hypertension and brachydactyly syndrome.

Authors:  Hiroko Boda; Hidetoshi Uchida; Nobue Takaiso; Yuya Ouchi; Naoko Fujita; Asami Kuno; Tadayoshi Hata; Arisa Nagatani; Yuri Funamoto; Masafumi Miyata; Tetsushi Yoshikawa; Hiroki Kurahashi; Hidehito Inagaki
Journal:  J Hum Genet       Date:  2016-04-07       Impact factor: 3.172

5.  Haploinsufficiency of SOX5 at 12p12.1 is associated with developmental delays with prominent language delay, behavior problems, and mild dysmorphic features.

Authors:  Allen N Lamb; Jill A Rosenfeld; Nicholas J Neill; Michael E Talkowski; Ian Blumenthal; Santhosh Girirajan; Debra Keelean-Fuller; Zheng Fan; Jill Pouncey; Cathy Stevens; Loren Mackay-Loder; Deborah Terespolsky; Patricia I Bader; Kenneth Rosenbaum; Stephanie E Vallee; John B Moeschler; Roger Ladda; Susan Sell; Judith Martin; Shawnia Ryan; Marilyn C Jones; Rocio Moran; Amy Shealy; Suneeta Madan-Khetarpal; Juliann McConnell; Urvashi Surti; Andrée Delahaye; Bénédicte Heron-Longe; Eva Pipiras; Brigitte Benzacken; Sandrine Passemard; Alain Verloes; Bertrand Isidor; Cedric Le Caignec; Gwen M Glew; Kent E Opheim; Maria Descartes; Evan E Eichler; Cynthia C Morton; James F Gusella; Roger A Schultz; Blake C Ballif; Lisa G Shaffer
Journal:  Hum Mutat       Date:  2012-04       Impact factor: 4.878

6.  Structure and chromosomal assignment of the human lectin-like oxidized low-density-lipoprotein receptor-1 (LOX-1) gene.

Authors:  T Aoyama; T Sawamura; Y Furutani; R Matsuoka; M C Yoshida; H Fujiwara; T Masaki
Journal:  Biochem J       Date:  1999-04-01       Impact factor: 3.857

Review 7.  Genetics of arterial hypertension and hypotension.

Authors:  Dieter Rosskopf; Markus Schürks; Christian Rimmbach; Rafael Schäfers
Journal:  Naunyn Schmiedebergs Arch Pharmacol       Date:  2007-01-30       Impact factor: 3.000

Review 8.  Brachydactyly E: isolated or as a feature of a syndrome.

Authors:  Arrate Pereda; Intza Garin; Maria Garcia-Barcina; Blanca Gener; Elena Beristain; Ane Miren Ibañez; Guiomar Perez de Nanclares
Journal:  Orphanet J Rare Dis       Date:  2013-09-12       Impact factor: 4.123

9.  Interstitial 12p deletion involving more than 40 genes in a patient with postnatal microcephaly, psychomotor delay, optic nerve atrophy, and facial dysmorphism.

Authors:  Anne Hoppe; Jan Heinemeyer; Eva Klopocki; Luitgard M Graul-Neumann; Birgit Spors; Petra Bittigau; Angela M Kaindl
Journal:  Meta Gene       Date:  2014-01-11

10.  12p deletion spectrum syndrome: a new case report reinforces the evidence regarding the potential relationship to autism spectrum disorder and related developmental impairments.

Authors:  Marcio Leyser; Bruno Leonardo Dias; Ana Luiza Coelho; Marcio Vasconcelos; Osvaldo J M Nascimento
Journal:  Mol Cytogenet       Date:  2016-10-04       Impact factor: 2.009
  10 in total

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