Literature DB >> 166632

Moebius syndrome in Kallmann syndrome.

A E Rubinstein, R E Lovelace, M M Behrens, L A Weisberg.   

Abstract

A girl born with congenital paresis of cranial nerves III, IV, and VII (Moeblus syndrome) subsequently developed a progressive peripheral neuropathy. There was suggestive evidence of a familial neuropathy with autosomal dominant inheritance in three family members. The patient also had hypogonadotrophic hypogonadism and anosmia (Kallmann syndrome).

Entities:  

Mesh：

Year:  1975        PMID： 166632     DOI： 10.1001/archneur.1975.00490490084010

Source DB:  PubMed          Journal:  Arch Neurol        ISSN： 0003-9942


  12 in total

1.  The Moebius syndrome: aetiology, incidence of mental retardation, and genetics.

Authors:  T Lipson; W Webster; D D Weaver
Journal:  J Med Genet       Date:  1990-08       Impact factor: 6.318

2.  [Ocular involvement in Möbius sequence. Awareness of a rare disease].

Authors:  V Sturm
Journal:  Ophthalmologe       Date:  2010-08       Impact factor: 1.059

3.  Moebius syndrome.

Authors:  D Kumar
Journal:  J Med Genet       Date:  1990-02       Impact factor: 6.318

4.  Multigenic truncation of the semaphorin-plexin pathway by a germline chromothriptic rearrangement associated with Moebius syndrome.

Authors:  Lusine Nazaryan-Petersen; Inês R Oliveira; Mana M Mehrjouy; Juan M M Mendez; Mads Bak; Merete Bugge; Vera M Kalscheuer; Iben Bache; Dustin C Hancks; Niels Tommerup
Journal:  Hum Mutat       Date:  2019-05-14       Impact factor: 4.878

5.  Möbius-like syndrome due to multiple cerebral abnormalities including hypoplasia of the descending tracts. A case report.

Authors:  E Nardelli; M Vio; L Ghersini; N Rizzuto
Journal:  J Neurol       Date:  1982       Impact factor: 4.849

6.  Familial spastic paraplegia with Kallmann's syndrome.

Authors:  R R Tuck; B P O'Neill; H Gharib; D W Mulder
Journal:  J Neurol Neurosurg Psychiatry       Date:  1983-07       Impact factor: 10.154

7.  Möbius syndrome. Neuropathologic observations.

Authors:  J Towfighi; K Marks; E Palmer; R Vannucci
Journal:  Acta Neuropathol       Date:  1979-10       Impact factor: 17.088

8.  A novel syndrome caused by the E410K amino acid substitution in the neuronal β-tubulin isotype 3.

Authors:  Sheena Chew; Ravikumar Balasubramanian; Wai-Man Chan; Peter B Kang; Caroline Andrews; Bryn D Webb; Sarah E MacKinnon; Darren T Oystreck; Jessica Rankin; Thomas O Crawford; Michael Geraghty; Scott L Pomeroy; William F Crowley; Ethylin Wang Jabs; David G Hunter; Patricia E Grant; Elizabeth C Engle
Journal:  Brain       Date:  2013-01-31       Impact factor: 13.501

9.  Moebius syndrome in association with hypogonadotropic hypogonadism.

Authors:  L E Brackett; L M Demers; A C Mamourian; C Ellenberger; R J Santen
Journal:  J Endocrinol Invest       Date:  1991 Jul-Aug       Impact factor: 4.256

10.  Diagnostic distinctions and genetic analysis of patients diagnosed with moebius syndrome.

Authors:  Sarah MacKinnon; Darren T Oystreck; Caroline Andrews; Wai-Man Chan; David G Hunter; Elizabeth C Engle
Journal:  Ophthalmology       Date:  2014-03-06       Impact factor: 12.079
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.