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 Smith-Lemli-Opitz syndromes: do they include the Pallister-Hall syndrome?

× No keyword cloud information.

7 in total

Review 1. The sonic hedgehog-patched-gli pathway in human development and disease.

Authors: E H Villavicencio; D O Walterhouse; P M Iannaccone
Journal: Am J Hum Genet Date: 2000-09-21 Impact factor: 11.025

2. Smith-Lemli-Opitz syndrome. II: A disorder of the fetal adrenals?

Authors: P A McKeever; I D Young
Journal: J Med Genet Date: 1990-07 Impact factor: 6.318

3. Expression of human GLI in mice results in failure to thrive, early death, and patchy Hirschsprung-like gastrointestinal dilatation.

Authors: J T Yang; C Z Liu; E H Villavicencio; J W Yoon; D Walterhouse; P M Iannaccone
Journal: Mol Med Date: 1997-12 Impact factor: 6.354

4. 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

5. Stringent delineation of Pallister-Hall syndrome in two long surviving patients: importance of radiological anomalies of the hands.

Authors: A Verloes; A David; L Ngô; A Bottani
Journal: J Med Genet Date: 1995-08 Impact factor: 6.318

6. Smith-Lemli-Opitz syndrome type II: report of a case with additional radiographic findings.

Authors: T E Herman; M J Siegel; B C Lee; S B Dowton
Journal: Pediatr Radiol Date: 1993

Review 7. Holoprosencephaly-polydactyly ('pseudotrisomy 13') syndrome: a syndrome with features of hydrolethalus and Smith-Lemli-Opitz syndromes. A collaborative multicentre study.

Authors: A Verloes; S Aymé; D Gambarelli; M Gonzales; M Le Merrer; N Mulliez; N Philip; J Roume
Journal: J Med Genet Date: 1991-05 Impact factor: 6.318

7 in total