9540409 11910506 25646736 9475598 9024559 9024558 11332467 7632194 7762564 9024554 12134326 9090293 10814713 9621298 10406671 9678700 12116209 8209912 21595006 9150166 8839719 8975714 10807690 9683613 8559757 8808751 9598354 9358606 - Search Results

Year	Number of Results
1994	2
1995	2
1996	3
1997	7
1998	5
1999	1
2000	2
2001	1
2002	3
2011	1
2015	1
2022	0

1

Cholesterol metabolism and embryogenesis.

Farese RV Jr, Herz J. Farese RV Jr, et al. Trends Genet. 1998 Mar;14(3):115-20. doi: 10.1016/s0168-9525(97)01377-2. Trends Genet. 1998. PMID: 9540409 Review.

2

Molecular mechanisms of human embryogenesis: developmental pathogenesis of renal tract malformations.

Woolf AS, Winyard PJ. Woolf AS, et al. Pediatr Dev Pathol. 2002 Mar-Apr;5(2):108-29. doi: 10.1007/s10024001-0141-z. Pediatr Dev Pathol. 2002. PMID: 11910506 Review.

3

Radiographic features of the skeleton in disorders of post-squalene cholesterol biosynthesis.

Rossi M, Hall CM, Bouvier R, Collardeau-Frachon S, Le Breton F, Bucourt M, Cordier MP, Vianey-Saban C, Parenti G, Andria G, Le Merrer M, Edery P, Offiah AC. Rossi M, et al. Pediatr Radiol. 2015 Jul;45(7):965-76. doi: 10.1007/s00247-014-3257-9. Epub 2015 Feb 3. Pediatr Radiol. 2015. PMID: 25646736 Review.

4

RSH (Smith-Lemli-Opitz) syndrome: "severe" phenotype with ectrodactyly.

de Jong G, Kirby PA, Muller LM. de Jong G, et al. Am J Med Genet. 1998 Jan 23;75(3):283-7. doi: 10.1002/(sici)1096-8628(19980123)75:3<283::aid-ajmg11>3.0.co;2-l. Am J Med Genet. 1998. PMID: 9475598

5

Physical mapping of the chromosome 7 breakpoint region in an SLOS patient with t(7;20) (q32.1;q13.2).

Alley TL, Scherer SW, Huizenga JJ, Tsui LC, Wallace MR. Alley TL, et al. Am J Med Genet. 1997 Jan 31;68(3):279-81. Am J Med Genet. 1997. PMID: 9024559

6

Cardiovascular malformations in Smith-Lemli-Opitz syndrome.

Lin AE, Ardinger HH, Ardinger RH Jr, Cunniff C, Kelley RI. Lin AE, et al. Am J Med Genet. 1997 Jan 31;68(3):270-8. Am J Med Genet. 1997. PMID: 9024558 Review.

7

Facial and skeletal malformations, mental retardation, aganglionosis, and neurogenic muscle weakness: a variant of Niikawa-Kuroki syndrome or a new syndrome?

Greco D, Romano C, Elia M. Greco D, et al. J Child Neurol. 2001 Apr;16(4):296-8. doi: 10.1177/088307380101600414. J Child Neurol. 2001. PMID: 11332467

8

Cholesterol metabolism in the RSH/Smith-Lemli-Opitz syndrome: summary of an NICHD conference.

Opitz JM, de la Cruz F. Opitz JM, et al. Am J Med Genet. 1994 May 1;50(4):326-38. doi: 10.1002/ajmg.1320500406. Am J Med Genet. 1994. PMID: 7632194

9

Identification of a yeast artificial chromosome clone spanning a translocation breakpoint at 7q32.1 in a Smith-Lemli-Opitz syndrome patient.

Alley TL, Gray BA, Lee SH, Scherer SW, Tsui LC, Tint GS, Williams CA, Zori R, Wallace MR. Alley TL, et al. Am J Hum Genet. 1995 Jun;56(6):1411-6. Am J Hum Genet. 1995. PMID: 7762564 Free PMC article.

10

A new face for an old syndrome.

Kelley RI. Kelley RI. Am J Med Genet. 1997 Jan 31;68(3):251-6. doi: 10.1002/(sici)1096-8628(19970131)68:3<251::aid-ajmg1>3.0.co;2-p. Am J Med Genet. 1997. PMID: 9024554 No abstract available.

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