Warning: Undefined array key "mm" in /www/wwwroot/www.ai-bt.com/si.php on line 10 Deprecated: trim(): Passing null to parameter #1 ($string) of type string is deprecated in /www/wwwroot/www.ai-bt.com/si.php on line 10 Report from the workshop on Pallister-Hall syndrome and related phenotypes.

Literature DB >> 8914745

Report from the workshop on Pallister-Hall syndrome and related phenotypes.

L G Biesecker¹, M Abbott, J Allen, C Clericuzio, P Feuillan, J M Graham, J Hall, S Kang, A H Olney, D Lefton, G Neri, K Peters, A Verloes.

Abstract

Entities: Disease

Mesh：

Year: 1996 PMID： 8914745 DOI： 10.1002/(SICI)1096-8628(19961002)65:1<76::AID-AJMG12>3.0.CO;2-O

Source DB: PubMed Journal: Am J Med Genet ISSN： 0148-7299

Keyword Cloud
Cited

× No keyword cloud information.

9 in total

1. Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations.

Authors: Jennifer J Johnston; Julie C Sapp; Joyce T Turner; David Amor; Salim Aftimos; Kyrieckos A Aleck; Maureen Bocian; Joann N Bodurtha; Gerald F Cox; Cynthia J Curry; Ruth Day; Dian Donnai; Michael Field; Ikuma Fujiwara; Michael Gabbett; Moran Gal; John M Graham; Peter Hedera; Raoul C M Hennekam; Joseph H Hersh; Robert J Hopkin; Hülya Kayserili; Alexa M J Kidd; Virginia Kimonis; Angela E Lin; Sally Ann Lynch; Melissa Maisenbacher; Sahar Mansour; Julie McGaughran; Lakshmi Mehta; Helen Murphy; Margarita Raygada; Nathaniel H Robin; Alan F Rope; Kenneth N Rosenbaum; G Bradley Schaefer; Amy Shealy; Wendy Smith; Maria Soller; Annmarie Sommer; Heather J Stalker; Bernhard Steiner; Mark J Stephan; David Tilstra; Susan Tomkins; Pamela Trapane; Anne Chun-Hui Tsai; Margot I Van Allen; Pradeep C Vasudevan; Bernhard Zabel; Janice Zunich; Graeme C M Black; Leslie G Biesecker
Journal: Hum Mutat Date: 2010-10 Impact factor: 4.878

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. 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

4. Molecular and clinical analyses of Greig cephalopolysyndactyly and Pallister-Hall syndromes: robust phenotype prediction from the type and position of GLI3 mutations.

Authors: Jennifer J Johnston; Isabelle Olivos-Glander; Christina Killoran; Emma Elson; Joyce T Turner; Kathryn F Peters; Margaret H Abbott; David J Aughton; Arthur S Aylsworth; Michael J Bamshad; Carol Booth; Cynthia J Curry; Albert David; Mary Beth Dinulos; David B Flannery; Michelle A Fox; John M Graham; Dorothy K Grange; Alan E Guttmacher; Mark C Hannibal; Wolfram Henn; Raoul C M Hennekam; Lewis B Holmes; H Eugene Hoyme; Kathleen A Leppig; Angela E Lin; Patrick Macleod; David K Manchester; Carlo Marcelis; Laura Mazzanti; Emma McCann; Marie T McDonald; Nancy J Mendelsohn; John B Moeschler; Billur Moghaddam; Giovanni Neri; Ruth Newbury-Ecob; Roberta A Pagon; John A Phillips; Laurie S Sadler; Joan M Stoler; David Tilstra; Catherine M Walsh Vockley; Elaine H Zackai; Touran M Zadeh; Louise Brueton; Graeme Charles M Black; Leslie G Biesecker
Journal: Am J Hum Genet Date: 2005-02-28 Impact factor: 11.025

Report from the workshop on Pallister-Hall syndrome and related phenotypes.

1. Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations.

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

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

4. Molecular and clinical analyses of Greig cephalopolysyndactyly and Pallister-Hall syndromes: robust phenotype prediction from the type and position of GLI3 mutations.

5. Clinical relevance of cytogenetics to pediatric practice. Postnatal findings of Patau syndrome - Review of 5 cases.

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

7. Identification of somatic chromosomal abnormalities in hypothalamic hamartoma tissue at the GLI3 locus.

Review 8. Sonic hedgehog signaling during adrenal development.

9. Presumptive Diagnosis of Pallister-Hall Syndrome Using Magnetic Resonance Imaging.