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Year Number of Results
1987 1
1989 2
1990 1
1991 1
1993 2
1994 1
1995 3
1996 1
1997 2
1999 1
2001 2
2002 3
2003 2
2004 2
2005 2
2006 2
2008 2
2009 1
2010 3
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2012 2
2013 3
2014 7
2015 5
2016 3
2017 2
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2024 1

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65 results

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Page 1
Megalocornea-mental retardation syndrome.
Mukherjee SB, Juneja M. Mukherjee SB, et al. Indian Pediatr. 2005 Aug;42(8):835-6. Indian Pediatr. 2005. PMID: 16141491 Free article. No abstract available.
Neuhauser syndrome: a rare association of megalocornea and mental retardation. Review of the literature and further phenotype delineation.
Gutiérrez-Amavizca BE, Juárez-Vázquez CI, Orozco-Castellanos R, Arnaud L, Macías-Gómez NM, Barros-Nuñez P. Gutiérrez-Amavizca BE, et al. Genet Couns. 2013;24(2):185-91. Genet Couns. 2013. PMID: 24032289 Review.
Megalocornea can be observed as an isolated abnormality that is inherited by an X-linked mechanism, or it can be associated with other entities. Megalocornea-mental retardation syndrome, also known as Neuhauser syndrome, is a rare autosom …
Megalocornea can be observed as an isolated abnormality that is inherited by an X-linked mechanism, or it can be associated with other entit …
Megalocornea and mental retardation syndrome: a new case.
Grønbech-Jensen M. Grønbech-Jensen M. Am J Med Genet. 1989 Apr;32(4):468-9. doi: 10.1002/ajmg.1320320406. Am J Med Genet. 1989. PMID: 2672814 Review.
We report on a new case of the megalocornea mental retardation syndrome, first described by Neuhauser et al. [1975]. ...
We report on a new case of the megalocornea mental retardation syndrome, first described by Neuhauser et al. [19 …
[Megalocornea-mental retardation syndrome].
Tonoki H. Tonoki H. Ryoikibetsu Shokogun Shirizu. 2001;(34 Pt 2):162-3. Ryoikibetsu Shokogun Shirizu. 2001. PMID: 11528678 Review. Japanese. No abstract available.
PNPLA6 Disorders.
Synofzik M, Hufnagel RB, Züchner S. Synofzik M, et al. 2014 Oct 9 [updated 2021 Jun 10]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2014 Oct 9 [updated 2021 Jun 10]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 25299038 Free Books & Documents. Review.
Some of these features can occur in distinct clusters on the phenotypic continuum: Boucher-Neuhauser syndrome (cerebellar ataxia, chorioretinal dystrophy, and hypogonadotropic hypogonadism); Gordon Holmes syndrome (cerebellar ataxia, hypogonadotropic hypogonadism, a …
Some of these features can occur in distinct clusters on the phenotypic continuum: Boucher-Neuhauser syndrome (cerebellar atax …
Megalocornea, macrocephaly, mental and motor retardation (MMMM).
Frydman M, Berkenstadt M, Raas-Rothschild A, Goodman RM. Frydman M, et al. Clin Genet. 1990 Aug;38(2):149-54. doi: 10.1111/j.1399-0004.1990.tb03564.x. Clin Genet. 1990. PMID: 2208767
These two patients resemble a previously reported case, and although there are distinct differences from patients with familial or sporadic Neuhauser syndrome, these cases may represent clinical variability of that syndrome....
These two patients resemble a previously reported case, and although there are distinct differences from patients with familial or sporadic …
Megalocornea and mental retardation syndrome: clinical and instrumental follow-up of a case.
Margari L, Presicci A, Ventura P, Buttiglione M, Dicuonzo F, Lattarulo C, Perniola T. Margari L, et al. J Child Neurol. 2006 Oct;21(10):893-6. doi: 10.1177/08830738060210100801. J Child Neurol. 2006. PMID: 17005108
Megalocornea-mental retardation syndrome, otherwise known as Neuhauser syndrome, is a rare autosomal recessive disorder. ...
Megalocornea-mental retardation syndrome, otherwise known as Neuhauser syndrome, is a rare autosom …
Heterogeneity versus variability in megalocornea-mental retardation (MMR) syndromes: report of new cases and delineation of 4 probable types.
Verloes A, Journel H, Elmer C, Misson JP, Le Merrer M, Kaplan J, Van Maldergem L, Deconinck H, Meire F. Verloes A, et al. Am J Med Genet. 1993 Apr 15;46(2):132-7. doi: 10.1002/ajmg.1320460206. Am J Med Genet. 1993. PMID: 8484397 Review.
Megalocornea (corneal diameter > or = 13 mm) is associated with mental and neurological impairment, and minor anomalies in Neuhauser syndrome (megalocornea-mental retardation syndrome). Here we report 4 new cases of megalocornea and me …
Megalocornea (corneal diameter > or = 13 mm) is associated with mental and neurological impairment, and minor anomalies in Neuhauser …
Megalocornea-mental retardation syndrome: report of a new case.
Barisić I, Ligutić I, Zergollern L. Barisić I, et al. J Med Genet. 1996 Oct;33(10):882-3. doi: 10.1136/jmg.33.10.882. J Med Genet. 1996. PMID: 8933347 Free PMC article.
Megalocornea-mental retardation syndrome (MMR) is a rare autosomal recessive disorder presenting with megalocornea, mental and motor retardation, hypotonia, seizures, short stature, and characteristic dysmorphic traits (MIM 249310). ...
Megalocornea-mental retardation syndrome (MMR) is a rare autosomal recessive disorder presenting with megalocorn …
65 results