Literature DB >> 8554070

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W B Dobyns.   

Abstract

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Year:  1996        PMID： 8554070      PMCID： PMC1914936     

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN： 0002-9297            Impact factor:   11.025


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  106 in total

1.  Brain anomalies found in 18 trisomy: CT scanning, morphologic and morphometric study.

Authors:  Y Nakamura; T Hashimoto; Y Sasaguri; K Yamana; S Tanaka; T Morodomi; T Murakami; F Maehara; T Nakashima; S Fukuda
Journal:  Clin Neuropathol       Date:  1986 Mar-Apr       Impact factor: 1.368

2.  Diploid-triploid mosaicism: report of necropsy findings.

Authors:  M J Pettenati; L D Mirkin; D J Goldstein
Journal:  Am J Med Genet       Date:  1986-05

3.  X-linked recessive microencephaly, microphthalmia with corneal opacities, spastic quadriplesia, hypospadias and cryptorchidism.

Authors:  M Siber
Journal:  Clin Genet       Date:  1984-11       Impact factor: 4.438

4.  A form of X-linked mental retardation with marfanoid habitus.

Authors:  J E Lujan; M E Carlin; H A Lubs
Journal:  Am J Med Genet       Date:  1984-01

5.  Multiple congenital anomalies syndrome with myopathy in chromosome 16 abnormality.

Authors:  V Ionasescu; S Patil; M Hart; W Rhead; W Smith
Journal:  Am J Med Genet       Date:  1987-01

Review 6.  Neonatal adrenoleukodystrophy: new cases, biochemical studies, and differentiation from Zellweger and related peroxisomal polydystrophy syndromes.

Authors:  R I Kelley; N S Datta; W B Dobyns; A K Hajra; A B Moser; M J Noetzel; E H Zackai; H W Moser
Journal:  Am J Med Genet       Date:  1986-04

7.  [Agenesis of the corpus callosum in a man with complete mosaic trisomy 8].

Authors:  F Baverel; J de Recondo; A Rouffet; D Fredy; A Salesses; P Rondot
Journal:  Presse Med       Date:  1985-04-06       Impact factor: 1.228

8.  Brain pathology in the Meckel syndrome: a study of 59 cases.

Authors:  A Paetau; R Salonen; M Haltia
Journal:  Clin Neuropathol       Date:  1985 Mar-Apr       Impact factor: 1.368

9.  Aniridia, congenital glaucoma, and hydrocephalus in a male infant with ring chromosome 6.

Authors:  H Levin; R Ritch; R Barathur; M W Dunn; C Teekhasaenee; S Margolis
Journal:  Am J Med Genet       Date:  1986-10
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  25 in total

1.  Maspardin is mutated in mast syndrome, a complicated form of hereditary spastic paraplegia associated with dementia.

Authors:  Michael A Simpson; Harold Cross; Christos Proukakis; Anna Pryde; Ruth Hershberger; Arnaud Chatonnet; Michael A Patton; Andrew H Crosby
Journal:  Am J Hum Genet       Date:  2003-10-16       Impact factor: 11.025

2.  Pre- and Postnatal Analysis of Chromosome 1q44 Deletion in Agenesis of Corpus Callosum.

Authors:  Mitesh Shetty; Ambika Srikanth; Jayarama Kadandale; Sridevi Hegde
Journal:  Mol Syndromol       Date:  2015-09-11

3.  Agenesis of the corpus callosum with Probst bundles owing to haploinsufficiency for a gene in an 8 cM region of 6q25.

Authors:  B Pirola; L Bortotto; S Giglio; E Piovan; A Janes; R Guerrini; O Zuffardi
Journal:  J Med Genet       Date:  1998-12       Impact factor: 6.318

Review 4.  Cochlear Implantation Outcomes in Children with Agenesis of the Corpus Callosum: A Retrospective Study and A Review of the Literature.

Authors:  Süleyman Özdemir; Ülkü Tuncer; Özgür Sürmelioğlu; Özgür Tarkan; Fikret Çelik; Mete Kıroğlu; Muhammed Dağkıran; Poyraz Şahin; Nilay Tezer; Funda Akar
Journal:  J Int Adv Otol       Date:  2019-12       Impact factor: 1.017

5.  Agenesis of the corpus callosum in fetuses with mild ventriculomegaly: role of MR imaging.

Authors:  R Manfredi; A Tognolini; C Bruno; R Raffaelli; M Franchi; R Pozzi Mucelli
Journal:  Radiol Med       Date:  2009-12-16       Impact factor: 3.469

6.  Chromosomal map of human brain malformations.

Authors:  Nataliya Tyshchenko; Iosif Lurie; Albert Schinzel
Journal:  Hum Genet       Date:  2008-06-18       Impact factor: 4.132

7.  Agenesis of corpus callosum: prenatal diagnosis and prognosis.

Authors:  Marie-Laure Moutard; Virginie Kieffer; Josué Feingold; François Kieffer; Fanny Lewin; Catherine Adamsbaum; Antoinette Gélot; Jaume Campistol I Plana; Patrick van Bogaert; Monique André; Gérard Ponsot
Journal:  Childs Nerv Syst       Date:  2003-07-04       Impact factor: 1.475

Review 8.  Corpus callosum agenesis and rehabilitative treatment.

Authors:  Matteo Chiappedi; Maurizio Bejor
Journal:  Ital J Pediatr       Date:  2010-09-17       Impact factor: 2.638

9.  Unusual clinical history of a male infant with Edwards syndrome.

Authors:  Andrea Surányi; Tamás Bitó; György Vajda; László Kaiser; Gábor Gáspár; Márta Katona; János Szabó; Attila Pál
Journal:  Pathol Oncol Res       Date:  2008-06-25       Impact factor: 3.201

10.  Agenesis and dysgenesis of the corpus callosum: clinical, genetic and neuroimaging findings in a series of 41 patients.

Authors:  Chayim Can Schell-Apacik; Kristina Wagner; Moritz Bihler; Birgit Ertl-Wagner; Uwe Heinrich; Eva Klopocki; Vera M Kalscheuer; Maximilian Muenke; Hubertus von Voss
Journal:  Am J Med Genet A       Date:  2008-10-01       Impact factor: 2.802
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