Literature DB >> 1218238

Skeletal dysplasia, occipital horns, diarrhea and obstructive uropathy- a new hereditary syndrome.

S G Lazoff, J J Rybak, B R Parker, L Luzzatti.   

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Year:  1975        PMID： 1218238

Source DB:  PubMed          Journal:  Birth Defects Orig Artic Ser        ISSN： 0547-6844


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  13 in total

1.  Loss of function mutation in LOX causes thoracic aortic aneurysm and dissection in humans.

Authors:  Vivian S Lee; Carmen M Halabi; Erin P Hoffman; Nikkola Carmichael; Ignaty Leshchiner; Christine G Lian; Andrew J Bierhals; Dana Vuzman; Robert P Mecham; Natasha Y Frank; Nathan O Stitziel
Journal:  Proc Natl Acad Sci U S A       Date:  2016-07-18       Impact factor: 11.205

2.  A novel frameshift mutation in exon 23 of ATP7A (MNK) results in occipital horn syndrome and not in Menkes disease.

Authors:  S L Dagenais; A N Adam; J W Innis; T W Glover
Journal:  Am J Hum Genet       Date:  2001-06-26       Impact factor: 11.025

3.  A C2055T transition in exon 8 of the ATP7A gene is associated with exon skipping in an occipital horn syndrome family.

Authors:  N Ronce; M P Moizard; L Robb; A Toutain; L Villard; C Moraine
Journal:  Am J Hum Genet       Date:  1997-07       Impact factor: 11.025

Review 4.  ATP7A-related copper transport diseases-emerging concepts and future trends.

Authors:  Stephen G Kaler
Journal:  Nat Rev Neurol       Date:  2011-01       Impact factor: 42.937

5.  Exclusion of COL1A1, COL1A2, and COL3A1 genes as candidate genes for Ehlers-Danlos syndrome type I in one large family.

Authors:  B P Sokolov; A N Prytkov; G Tromp; R G Knowlton; D J Prockop
Journal:  Hum Genet       Date:  1991-12       Impact factor: 4.132

Review 6.  Clinical and Molecular Delineation of Cutis Laxa Syndromes: Paradigms for Homeostasis.

Authors:  Aude Beyens; Lore Pottie; Patrick Sips; Bert Callewaert
Journal:  Adv Exp Med Biol       Date:  2021       Impact factor: 2.622

7.  Occipital horn syndrome. Additional radiographic findings in two new cases.

Authors:  T E Herman; W H McAlister; A Boniface; M P Whyte
Journal:  Pediatr Radiol       Date:  1992

8.  Variability in clinical expression of Menkes syndrome.

Authors:  A M Gerdes; T Tønnesen; E Pergament; C Sander; K E Baerlocher; R Wartha; F Güttler; N Horn
Journal:  Eur J Pediatr       Date:  1988-11       Impact factor: 3.183

Review 9.  The pathobiology of splicing.

Authors:  Amanda J Ward; Thomas A Cooper
Journal:  J Pathol       Date:  2010-01       Impact factor: 7.996

10.  Similar splicing mutations of the Menkes/mottled copper-transporting ATPase gene in occipital horn syndrome and the blotchy mouse.

Authors:  S Das; B Levinson; C Vulpe; S Whitney; J Gitschier; S Packman
Journal:  Am J Hum Genet       Date:  1995-03       Impact factor: 11.025
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