Literature DB >> 5713646

Congenital microcephaly with hiatus hernia and nephrotic syndrome in two sibs.

W H Galloway, A P Mowat.   

Abstract

Entities:  

Mesh：

Year:  1968        PMID： 5713646      PMCID： PMC1468664          DOI： 10.1136/jmg.5.4.319

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


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  10 in total

1.  Congenital nephrotic syndrome.

Authors:  N HALLMAN; L HJELT
Journal:  J Pediatr       Date:  1959-08       Impact factor: 4.406

2.  THE NATURAL EVOLUTION OF HIATAL HERNIAS.

Authors:  E ROVIRALTA
Journal:  Arch Dis Child       Date:  1964-04       Impact factor: 3.791

3.  The natural history of the partial thoracic stomach (hiatus hernia) in children.

Authors:  I J CARRE
Journal:  Arch Dis Child       Date:  1959-08       Impact factor: 3.791

4.  Studies on familial nephrosis. I. Clinical and pathologic study of four cases in a single family.

Authors:  R L VERNIER; J BRUNSON; R A GOOD
Journal:  AMA J Dis Child       Date:  1957-05

5.  The nephrotic syndrome in early infancy: a report of three cases.

Authors:  H M GILES; R C PUGH; E M DARMADY; F STRANACK; L I WOOLF
Journal:  Arch Dis Child       Date:  1957-06       Impact factor: 3.791

6.  [Microcephalic children of consanguinous parents].

Authors:  J VAN DEN BOSCH
Journal:  Ned Tijdschr Geneeskd       Date:  1955-12-10

7.  [The nephrotic diathesis].

Authors:  G FANCONI; C KOUSMINE; W FRISCHKNECHT
Journal:  Helv Paediatr Acta       Date:  1951-06

8.  The nephrotic syndrome in children.

Authors:  H L BARNETT; C W FORMAN; H D LAUSON
Journal:  Adv Pediatr       Date:  1952-01

9.  [Lipoid nephrosis in enzygotic twins].

Authors:  A PRADER
Journal:  Helv Paediatr Acta       Date:  1950-07

Review 10.  Hereditary renal glomerular disease in infancy and childhood.

Authors:  W W McCrory; M Shibuya; H G Worthen
Journal:  Adv Pediatr       Date:  1966
  10 in total
  36 in total

1.  Infantile nephrotic syndrome with microcephaly and global developmental delay: the Galloway Mowat Syndrome.

Authors:  Sriram Krishnamurthy; N G Rajesh; Ananthakrishnan Ramesh; Martin Zenker
Journal:  Indian J Pediatr       Date:  2011-12-03       Impact factor: 1.967

2.  Clinical quiz. Congenital nephrotic syndrome, microcephaly, brain malformations and diaphragmatic abnormality associated with histological features of diffuse mesangial sclerosis.

Authors:  O Koskimies; H Sariola; C Holmberg; J Rapola
Journal:  Pediatr Nephrol       Date:  1991-07       Impact factor: 3.714

3.  Loss-of-function mutations in WDR73 are responsible for microcephaly and steroid-resistant nephrotic syndrome: Galloway-Mowat syndrome.

Authors:  Estelle Colin; Evelyne Huynh Cong; Géraldine Mollet; Agnès Guichet; Olivier Gribouval; Christelle Arrondel; Olivia Boyer; Laurent Daniel; Marie-Claire Gubler; Zelal Ekinci; Michel Tsimaratos; Brigitte Chabrol; Nathalie Boddaert; Alain Verloes; Arnaud Chevrollier; Naig Gueguen; Valérie Desquiret-Dumas; Marc Ferré; Vincent Procaccio; Laurence Richard; Benoit Funalot; Anne Moncla; Dominique Bonneau; Corinne Antignac
Journal:  Am J Hum Genet       Date:  2014-11-13       Impact factor: 11.025

4.  An unusual case of nephrotic syndrome in a microcephalic infant: Answers.

Authors:  Elizabeth Baker; Donald Weaver; Susan Massengill; Dana Mittag; Jane Juusola; Laurie Demmer
Journal:  Pediatr Nephrol       Date:  2019-05-08       Impact factor: 3.714

5.  Amniotic fluid AFP level in Galloway syndrome.

Authors:  A M Oudesluys-Murphy; A J Hoogenboom
Journal:  Eur J Pediatr       Date:  1988-05       Impact factor: 3.183

6.  [Familial microcephalies due to cerebral malformation. Anatomical and clinical study].

Authors:  O Robain; G Lyon
Journal:  Acta Neuropathol       Date:  1972       Impact factor: 17.088

7.  Microcephaly and congenital nephrotic syndrome owing to diffuse mesangial sclerosis: an autosomal recessive syndrome.

Authors:  B Z Garty; B Eisenstein; J Sandbank; S Kaffe; R Dagan; N Gadoth
Journal:  J Med Genet       Date:  1994-02       Impact factor: 6.318

8.  Mutations in WDR4 as a new cause of Galloway-Mowat syndrome.

Authors:  Daniela A Braun; Shirlee Shril; Aditi Sinha; Ronen Schneider; Weizhen Tan; Shazia Ashraf; Tobias Hermle; Tilman Jobst-Schwan; Eugen Widmeier; Amar J Majmundar; Ankana Daga; Jillian K Warejko; Makiko Nakayama; David Schapiro; Jing Chen; Merlin Airik; Jia Rao; Johanna Magdalena Schmidt; Charlotte A Hoogstraten; Hannah Hugo; Jitendra Meena; Monkol Lek; Kristen M Laricchia; Arvind Bagga; Friedhelm Hildebrandt
Journal:  Am J Med Genet A       Date:  2018-08-06       Impact factor: 2.802

Review 9.  Congenital nephrotic syndrome.

Authors:  Hannu Jalanko
Journal:  Pediatr Nephrol       Date:  2007-10-30       Impact factor: 3.714

10.  Congenital microcephaly, infantile spasms, psychomotor retardation, and nephrotic syndrome in two sibs.

Authors:  R A Roos; P D Maaswinkel-Mooy; E M vd Loo; H H Kanhai
Journal:  Eur J Pediatr       Date:  1987-09       Impact factor: 3.183
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