Literature DB >> 2074561

Hydrolethalus syndrome.

R Salonen1, R Herva.   

Abstract

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Mesh：

Year:  1990        PMID： 2074561      PMCID： PMC1017280          DOI： 10.1136/jmg.27.12.756

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


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  9 in total

1.  Hydrolethalus (Salonen-Herva-Norio) syndrome: further clinicopathological delineation.

Authors:  K Anyane-Yeboa; M Collins; W Kupsky; J Maidman; J Malin; M Yeh
Journal:  Am J Med Genet       Date:  1987-04

2.  The hydrolethalus syndrome.

Authors:  N Krassikoff; L Konick; E F Gilbert
Journal:  Birth Defects Orig Artic Ser       Date:  1987

3.  Prenatal detection of hydrolethalus syndrome.

Authors:  A L Hartikainen-Sorri; P Kirkinen; R Herva
Journal:  Prenat Diagn       Date:  1983-07       Impact factor: 3.050

4.  Bilateral pulmonary agenesis: association with the hydrolethalus syndrome and review of the literature from a developmental field perspective.

Authors:  H V Toriello; S C Bauserman
Journal:  Am J Med Genet       Date:  1985-05

5.  Hydrolethalus syndrome in consecutive African siblings.

Authors:  O O Adetoro; F Komolafe; A Anjorin
Journal:  Pediatr Radiol       Date:  1984

6.  CNS anomalies and the midline as a "developmental field".

Authors:  J M Opitz; E F Gilbert
Journal:  Am J Med Genet       Date:  1982-08

Review 7.  Hydrolethalus syndrome: report of an apparent mild case, literature review, and differential diagnosis.

Authors:  D J Aughton; S B Cassidy
Journal:  Am J Med Genet       Date:  1987-08

8.  Roentgenologic findings of the hydrolethalus syndrome.

Authors:  R Herva; U Seppänen
Journal:  Pediatr Radiol       Date:  1984

9.  The hydrolethalus syndrome: delineation of a "new", lethal malformation syndrome based on 28 patients.

Authors:  R Salonen; R Herva; R Norio
Journal:  Clin Genet       Date:  1981-05       Impact factor: 4.438
  9 in total
  7 in total

Review 1.  The Finnish Disease Heritage III: the individual diseases.

Authors:  Reijo Norio
Journal:  Hum Genet       Date:  2003-03-08       Impact factor: 4.132

2.  Linkage disequilibrium mapping in isolated populations: the example of Finland revisited.

Authors:  A de la Chapelle; F A Wright
Journal:  Proc Natl Acad Sci U S A       Date:  1998-10-13       Impact factor: 11.205

3.  Assignment of the locus for hydrolethalus syndrome to a highly restricted region on 11q23-25.

Authors:  I Visapää; R Salonen; T Varilo; P Paavola; L Peltonen
Journal:  Am J Hum Genet       Date:  1999-10       Impact factor: 11.025

Review 4.  Congenital hydrocephalus: nosology and guidelines for clinical approach and genetic counselling.

Authors:  C Schrander-Stumpel; J P Fryns
Journal:  Eur J Pediatr       Date:  1998-05       Impact factor: 3.183

5.  The hydrolethalus syndrome protein HYLS-1 links core centriole structure to cilia formation.

Authors:  Alexander Dammermann; Hayley Pemble; Brian J Mitchell; Ian McLeod; John R Yates; Chris Kintner; Arshad B Desai; Karen Oegema
Journal:  Genes Dev       Date:  2009-08-05       Impact factor: 11.361

Review 6.  Holoprosencephaly-polydactyly ('pseudotrisomy 13') syndrome: a syndrome with features of hydrolethalus and Smith-Lemli-Opitz syndromes. A collaborative multicentre study.

Authors:  A Verloes; S Aymé; D Gambarelli; M Gonzales; M Le Merrer; N Mulliez; N Philip; J Roume
Journal:  J Med Genet       Date:  1991-05       Impact factor: 6.318

7.  Unraveling the disease pathogenesis behind lethal hydrolethalus syndrome revealed multiple changes in molecular and cellular level.

Authors:  Heli Honkala; Jenni Lahtela; Heli Fox; Massimiliano Gentile; Niklas Pakkasjärvi; Riitta Salonen; Kirmo Wartiovaara; Matti Jauhiainen; Marjo Kestilä
Journal:  Pathogenetics       Date:  2009-04-28
  7 in total

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