Hughes-Benzie R[au] - Search Results

Year	Number of Results
1991	1
1992	3
1993	1
1994	3
1995	2
1996	3
1997	1
1998	2
1999	2
2024	0

1

Cardiac anomalies in the Simpson-Golabi-Behmel syndrome.

Lin AE, Neri G, Hughes-Benzie R, Weksberg R. Lin AE, et al. Among authors: hughes benzie r. Am J Med Genet. 1999 Apr 23;83(5):378-81. Am J Med Genet. 1999. PMID: 10232747 Review.

2

Fetal therapy.

Benzie RJ, Hughes-Benzie RM. Benzie RJ, et al. Among authors: hughes benzie rm. Baillieres Clin Obstet Gynaecol. 1991 Sep;5(3):715-29. doi: 10.1016/s0950-3552(05)80266-4. Baillieres Clin Obstet Gynaecol. 1991. PMID: 1954735 Review. No abstract available.

3

The Aicardi-Goutières syndrome (familial, early onset encephalopathy with calcifications of the basal ganglia and chronic cerebrospinal fluid lymphocytosis).

Tolmie JL, Shillito P, Hughes-Benzie R, Stephenson JB. Tolmie JL, et al. Among authors: hughes benzie r. J Med Genet. 1995 Nov;32(11):881-4. doi: 10.1136/jmg.32.11.881. J Med Genet. 1995. PMID: 8592332 Free PMC article. Review.

4

Mapping of Simpson-Golabi-Behmel syndrome to Xq25-q27.

Xuan JY, Besner A, Ireland M, Hughes-Benzie RM, MacKenzie AE. Xuan JY, et al. Among authors: hughes benzie rm. Hum Mol Genet. 1994 Jan;3(1):133-7. doi: 10.1093/hmg/3.1.133. Hum Mol Genet. 1994. PMID: 7909248

5

Mutations in GPC3, a glypican gene, cause the Simpson-Golabi-Behmel overgrowth syndrome.

Pilia G, Hughes-Benzie RM, MacKenzie A, Baybayan P, Chen EY, Huber R, Neri G, Cao A, Forabosco A, Schlessinger D. Pilia G, et al. Among authors: hughes benzie rm. Nat Genet. 1996 Mar;12(3):241-7. doi: 10.1038/ng0396-241. Nat Genet. 1996. PMID: 8589713

6

Simpson-Golabi-Behmel syndrome: genotype/phenotype analysis of 18 affected males from 7 unrelated families.

Hughes-Benzie RM, Pilia G, Xuan JY, Hunter AG, Chen E, Golabi M, Hurst JA, Kobori J, Marymee K, Pagon RA, Punnett HH, Schelley S, Tolmie JL, Wohlferd MM, Grossman T, Schlessinger D, MacKenzie AE. Hughes-Benzie RM, et al. Am J Med Genet. 1996 Dec 11;66(2):227-34. doi: 10.1002/(SICI)1096-8628(19961211)66:2<227::AID-AJMG20>3.0.CO;2-U. Am J Med Genet. 1996. PMID: 8958336

7

A small interstitial deletion in the GPC3 gene causes Simpson-Golabi-Behmel syndrome in a Dutch-Canadian family.

Xuan JY, Hughes-Benzie RM, MacKenzie AE. Xuan JY, et al. Among authors: hughes benzie rm. J Med Genet. 1999 Jan;36(1):57-8. J Med Genet. 1999. PMID: 9950367 Free PMC article.

8

A patient with Simpson-Golabi-Behmel syndrome and hepatocellular carcinoma.

Lapunzina P, Badia I, Galoppo C, De Matteo E, Silberman P, Tello A, Grichener J, Hughes-Benzie R. Lapunzina P, et al. Among authors: hughes benzie r. J Med Genet. 1998 Feb;35(2):153-6. doi: 10.1136/jmg.35.2.153. J Med Genet. 1998. PMID: 9507397 Free PMC article.

9

Le foie vide: a unique case of neonatal liver failure.

Gilmour SM, Hughes-Benzie R, Silver MM, Roberts EA. Gilmour SM, et al. Among authors: hughes benzie r. J Pediatr Gastroenterol Nutr. 1996 Dec;23(5):618-23. doi: 10.1097/00005176-199612000-00019. J Pediatr Gastroenterol Nutr. 1996. PMID: 8985856 No abstract available.

10

The importance of differentiating Simpson-Golabi-Behmel and Beckwith-Wiedemann syndromes.

Hughes-Benzie R, Allanson J, Hunter A, Cole T. Hughes-Benzie R, et al. J Med Genet. 1992 Dec;29(12):928. doi: 10.1136/jmg.29.12.928-b. J Med Genet. 1992. PMID: 1479609 Free PMC article. No abstract available.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My NCBI Filters

Results by year

Text availability

Article attribute

Article type

Publication date

18 results

Results by year

Search Page

Filters

My NCBI Filters

Results by year

Text availability

Article attribute

Article type

Publication date

Search Results

18 results

Results by year