Thomas IT - Search Results

1

Additional copies of the proteolipid protein gene causing Pelizaeus-Merzbacher disease arise by separate integration into the X chromosome.

Hodes ME, Woodward K, Spinner NB, Emanuel BS, Enrico-Simon A, Kamholz J, Stambolian D, Zackai EH, Pratt VM, Thomas IT, Crandall K, Dlouhy SR, Malcolm S. Hodes ME, et al. Among authors: thomas it. Am J Hum Genet. 2000 Jul;67(1):14-22. doi: 10.1086/302965. Epub 2000 May 25. Am J Hum Genet. 2000. PMID: 10827108 Free PMC article.

2

Fryns syndrome: neurologic findings in a survivor.

Riela AR, Thomas IT, Gonzalez AR, Ifft RD. Riela AR, et al. Among authors: thomas it. J Child Neurol. 1995 Mar;10(2):110-3. doi: 10.1177/088307389501000208. J Child Neurol. 1995. PMID: 7782599

3

Najjar syndrome revisited.

Thomas IT, Jewett T, Lantz P, Covitz W, Garber P, Berry MN. Thomas IT, et al. Am J Med Genet. 1993 Dec 1;47(8):1151-2. doi: 10.1002/ajmg.1320470803. Am J Med Genet. 1993. PMID: 8291546

4

Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) associated with interstitial deletion of band 3q22: review and gene assignment to the interface of band 3q22.3 and 3q23.

Jewett T, Rao PN, Weaver RG, Stewart W, Thomas IT, Pettenati MJ. Jewett T, et al. Among authors: thomas it. Am J Med Genet. 1993 Dec 1;47(8):1147-50. doi: 10.1002/ajmg.1320470802. Am J Med Genet. 1993. PMID: 8291545 Review.

5

Williams syndrome: autosomal dominant inheritance.

Morris CA, Thomas IT, Greenberg F. Morris CA, et al. Among authors: thomas it. Am J Med Genet. 1993 Sep 15;47(4):478-81. doi: 10.1002/ajmg.1320470409. Am J Med Genet. 1993. PMID: 8256809

6

New lethal syndrome of fetal akinesia with characteristic facial appearance, severe microphthalmia, microtia, and truncus arteriosus in two male sibs.

Thomas IT, Jewett T, Raines KH, Gash C, Garber P. Thomas IT, et al. Am J Med Genet. 1993 Apr 15;46(2):180-1. doi: 10.1002/ajmg.1320460216. Am J Med Genet. 1993. PMID: 8484406 No abstract available.

7

Holzgreve syndrome: recurrence in sibs.

Thomas IT, Honore GM, Jewett T, Velvis H, Garber P, Ruiz C. Thomas IT, et al. Am J Med Genet. 1993 Mar 15;45(6):767-9. doi: 10.1002/ajmg.1320450621. Am J Med Genet. 1993. PMID: 8456859

8

Inversion (X)(p11.4q22) associated with Norrie disease in a four generation family.

Pettenati MJ, Rao PN, Weaver RG Jr, Thomas IT, McMahan MR. Pettenati MJ, et al. Among authors: thomas it. Am J Med Genet. 1993 Mar 1;45(5):577-80. doi: 10.1002/ajmg.1320450511. Am J Med Genet. 1993. PMID: 8456827

9

Unbalanced mosaic karyotypes with different structural abnormalities involving a common chromosome region: report of two cases.

Pettenati MJ, Teot LA, Smith C, Hayworth R, Thomas IT, Veille JC, Rao PN. Pettenati MJ, et al. Among authors: thomas it. Am J Med Genet. 1993 Feb 1;45(3):365-9. doi: 10.1002/ajmg.1320450317. Am J Med Genet. 1993. PMID: 8434625 Review.

10

Molecular cytogenetic analysis of a familial 8p23.1 deletion associated with minimal dysmorphic features, seizures, and mild mental retardation.

Pettenati MJ, Rao N, Johnson C, Hayworth R, Crandall K, Huff O, Thomas IT. Pettenati MJ, et al. Among authors: thomas it. Hum Genet. 1992 Aug;89(6):602-6. doi: 10.1007/BF00221946. Hum Genet. 1992. PMID: 1511976 Review.

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