Literature DB >> 8818945

Pallister-Hall syndrome.

L G Biesecker1, J M Graham.   

Abstract

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Mesh：

Year:  1996        PMID： 8818945      PMCID： PMC1050667          DOI： 10.1136/jmg.33.7.585

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


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  29 in total

Review 1.  Pseudo-trisomy 13 syndrome.

Authors:  M M Cohen; R J Gorlin
Journal:  Am J Med Genet       Date:  1991-06-01

2.  Bifid epiglottis, hand anomalies, and congenital hypopituitarism.

Authors:  J M Graham; F E Brown; R L Saunders; A J Hinkle; J E Frank; M S Harris; R Z Klein
Journal:  Lancet       Date:  1985-08-24       Impact factor: 79.321

3.  Greig cephalopolysyndactyly: report of 13 affected individuals in three families.

Authors:  M Baraitser; R M Winter; E M Brett
Journal:  Clin Genet       Date:  1983-10       Impact factor: 4.438

4.  Infantile hypothalamic hamartoma with multiple congenital abnormalities.

Authors:  M A Nurbhai; B E Tomlinson; B Lorigan-Forsythe
Journal:  Neuropathol Appl Neurobiol       Date:  1985 Jan-Feb       Impact factor: 8.090

5.  Congenital hypothalamic hamartoblastoma syndrome: natural history and genetic implications.

Authors:  J M Graham; M Harris; J E Frank; G A Little; R Z Klein
Journal:  Prog Clin Biol Res       Date:  1985

6.  The Meckel syndrome: clinicopathological findings in 67 patients.

Authors:  R Salonen
Journal:  Am J Med Genet       Date:  1984-08

7.  On lumping and splitting: a fetus with clinical findings of the oral-facial-digital syndrome type VI, the hydrolethalus syndrome, and the Pallister-Hall syndrome.

Authors:  M Muenke; E D Ruchelli; L B Rorke; D M McDonald-McGinn; M K Orlow; A Isaacs; F J Craparo; L K Dunn; E H Zackai
Journal:  Am J Med Genet       Date:  1991-12-15

8.  Syndrome of polydactyly, cleft lip/palate or lingual lump, and psychomotor retardation in endogamic gypsies.

Authors:  V Váradi; L Szabó; Z Papp
Journal:  J Med Genet       Date:  1980-04       Impact factor: 6.318

9.  Congenital hypothalamic hamartoblastoma, hypopituitarism, imperforate anus and postaxial polydactyly--a new syndrome? Part I: clinical, causal, and pathogenetic considerations.

Authors:  J G Hall; P D Pallister; S K Clarren; J B Beckwith; F W Wiglesworth; F C Fraser; S Cho; P J Benke; S D Reed
Journal:  Am J Med Genet       Date:  1980

Review 10.  Case report and delineation of the congenital hypothalamic hamartoblastoma syndrome (Pallister-Hall syndrome).

Authors:  K Iafolla; J D Fratkin; P K Spiegel; M M Cohen; J M Graham
Journal:  Am J Med Genet       Date:  1989-08
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  14 in total

1.  Degenerative thalamic hamartoma: CT and MR imaging features.

Authors:  Tomoki Kaneko; Rei Kawakami; Yasunari Fujinaga; Kazuhiro Oguchi; Jun Nakayama; Kazuhiro Hongo; Masumi Kadoya
Journal:  AJNR Am J Neuroradiol       Date:  2004-05       Impact factor: 3.825

2.  Linkage mapping and phenotypic analysis of autosomal dominant Pallister-Hall syndrome.

Authors:  S Kang; J Allen; J M Graham; T Grebe; C Clericuzio; N Patronas; F Ondrey; E Green; A Schäffer; M Abbott; L G Biesecker
Journal:  J Med Genet       Date:  1997-06       Impact factor: 6.318

3.  Pallister-Hall syndrome: clinical and MR features.

Authors:  J S Kuo; S O Casey; L Thompson; C L Truwit
Journal:  AJNR Am J Neuroradiol       Date:  1999 Nov-Dec       Impact factor: 3.825

4.  Gonadotropin-dependent precocious puberty: neoplastic causes and endocrine considerations.

Authors:  Matthew D Stephen; Peter E Zage; Steven G Waguespack
Journal:  Int J Pediatr Endocrinol       Date:  2011-03-06

5.  GLI3 mutations in human disorders mimic Drosophila cubitus interruptus protein functions and localization.

Authors:  S H Shin; P Kogerman; E Lindström; R Toftgárd; L G Biesecker
Journal:  Proc Natl Acad Sci U S A       Date:  1999-03-16       Impact factor: 11.205

6.  Exclusion of candidate loci and cholesterol biosynthetic abnormalities in familial Pallister-Hall syndrome.

Authors:  L G Biesecker; S Kang; A A Schäffer; M Abbott; R I Kelley; J C Allen; C Clericuzio; T Grebe; A Olney; J M Graham
Journal:  J Med Genet       Date:  1996-11       Impact factor: 6.318

7.  Human genetic disease caused by de novo mitochondrial-nuclear DNA transfer.

Authors:  Clesson Turner; Christina Killoran; Nick S T Thomas; Marjorie Rosenberg; Nadia A Chuzhanova; Jennifer Johnston; Yelena Kemel; David N Cooper; Leslie G Biesecker
Journal:  Hum Genet       Date:  2003-01-25       Impact factor: 4.132

8.  New insights into genotype-phenotype correlation for GLI3 mutations.

Authors:  Florence Démurger; Amale Ichkou; Soumaya Mougou-Zerelli; Martine Le Merrer; Géraldine Goudefroye; Anne-Lise Delezoide; Chloé Quélin; Sylvie Manouvrier; Geneviève Baujat; Mélanie Fradin; Laurent Pasquier; André Megarbané; Laurence Faivre; Clarisse Baumann; Sheela Nampoothiri; Joëlle Roume; Bertrand Isidor; Didier Lacombe; Marie-Ange Delrue; Sandra Mercier; Nicole Philip; Elise Schaefer; Muriel Holder; Amanda Krause; Fanny Laffargue; Martine Sinico; Daniel Amram; Gwenaelle André; Alain Liquier; Massimiliano Rossi; Jeanne Amiel; Fabienne Giuliano; Odile Boute; Anne Dieux-Coeslier; Marie-Line Jacquemont; Alexandra Afenjar; Lionel Van Maldergem; Marylin Lackmy-Port-Lis; Catherine Vincent-Delorme; Marie-Liesse Chauvet; Valérie Cormier-Daire; Louise Devisme; David Geneviève; Arnold Munnich; Géraldine Viot; Odile Raoul; Serge Romana; Marie Gonzales; Ferechte Encha-Razavi; Sylvie Odent; Michel Vekemans; Tania Attie-Bitach
Journal:  Eur J Hum Genet       Date:  2014-04-16       Impact factor: 4.246

9.  MR imaging and spectroscopic study of epileptogenic hypothalamic hamartomas: analysis of 72 cases.

Authors:  Jeremy L Freeman; Lee T Coleman; R Mark Wellard; Michael J Kean; Jeffrey V Rosenfeld; Graeme D Jackson; Samuel F Berkovic; A Simon Harvey
Journal:  AJNR Am J Neuroradiol       Date:  2004-03       Impact factor: 3.825

10.  Hypothalamic hamartoma with bilateral anophthalmia.

Authors:  Burçak Bilginer; Atilla Akbay; Nejat Akalan
Journal:  Childs Nerv Syst       Date:  2007-04-20       Impact factor: 1.532
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