F R Goodman
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Explore the profile of F R Goodman including associated specialties, affiliations and a list of published articles.
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53
Citations
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Recent Articles
1.
Bijlsma E, Knegt A, Bilardo C, Goodman F
Prenat Diagn
. 2005 Jan;
25(1):39-44.
PMID: 15662696
Objectives: To describe and discuss the clinical, cytogenetic and molecular findings in a fetus with the first prenatally detected interstitial deletion of chromosome 2q. Case Report: A fetus with increased...
2.
Bacchelli C, Wilson L, Cook J, Winter R, Goodman F
Clin Genet
. 2003 Aug;
64(3):263-5.
PMID: 12919145
No abstract available.
3.
Morgan N, Bacchelli C, Gissen P, Morton J, Ferrero G, Silengo M, et al.
J Med Genet
. 2003 Jun;
40(6):431-5.
PMID: 12807964
Asphyxiating thoracic dystrophy (ATD), or Jeune syndrome, is a multisystem autosomal recessive disorder associated with a characteristic skeletal dysplasia and variable renal, hepatic, pancreatic, and retinal abnormalities. We have performed...
4.
Debeer P, Bacchelli C, Scambler P, De Smet L, Fryns J, Goodman F
J Med Genet
. 2002 Nov;
39(11):852-6.
PMID: 12414828
No abstract available.
5.
Dundar M, Gordon T, Ozyazgan I, Oguzkaya F, Ozkul Y, Cooke A, et al.
J Med Genet
. 2001 May;
38(5):304-9.
PMID: 11333865
F syndrome (acropectorovertebral syndrome) is a dominantly inherited skeletal dysplasia affecting the hands, feet, sternum, and lumbosacral spine, which has previously been described in only two families. Here we report...
6.
Bacchelli C, Goodman F, Scambler P, Winter R
Clin Genet
. 2001 Mar;
59(3):203-5.
PMID: 11260233
No abstract available.
7.
Goodman F, Scambler P
Clin Genet
. 2001 Feb;
59(1):1-11.
PMID: 11206481
HOX genes play a fundamental role in the development of the vertebrate central nervous system, axial skeleton, limbs, gut, urogenital tract and external genitalia, but it is only in the...
8.
Debeer P, Schoenmakers E, Thoelen R, Holvoet M, Kuittinen T, Fabry G, et al.
Eur J Hum Genet
. 2000 Aug;
8(8):561-70.
PMID: 10951517
Synpolydactyly (SPD) is a rare malformation of the distal limbs known to be caused by mutations in HOXD13. We have previously described a complex form of SPD associated with synostoses...
9.
Goodman F, Bacchelli C, Brady A, Brueton L, Fryns J, Mortlock D, et al.
Am J Hum Genet
. 2000 Jun;
67(1):197-202.
PMID: 10839976
Hand-foot-genital syndrome (HFGS) is a rare, dominantly inherited condition affecting the distal limbs and genitourinary tract. A nonsense mutation in the homeobox of HOXA13 has been identified in one affected...
10.
Wang J, Spitz L, Hayward R, Kiely E, Hall C, ODonoghue D, et al.
Eur J Pediatr
. 1999 Dec;
158(11):902-5.
PMID: 10541945
Unlabelled: Most cases of sacral dysgenesis are considered to be sporadic events. We present two families in whom the presence of associated clinical features prompted specific investigation of chromosome 7,...