P30 HD34610/HD/NICHD NIH HHS/United States[Grants and Funding] - Search Results

Year	Number of Results
1998	3
1999	1
2000	2
2001	6
2002	2
2003	1
2004	4
2006	1
2025	0

1

Mutations in NR0B1 (DAX1) and NR5A1 (SF1) responsible for adrenal hypoplasia congenita.

Phelan JK, McCabe ER. Phelan JK, et al. Hum Mutat. 2001 Dec;18(6):472-87. doi: 10.1002/humu.1225. Hum Mutat. 2001. PMID: 11748841 Review.

2

Glycerol kinase deficiency: evidence for complexity in a single gene disorder.

Dipple KM, Zhang YH, Huang BL, McCabe LL, Dallongeville J, Inokuchi T, Kimura M, Marx HJ, Roederer GO, Shih V, Yamaguchi S, Yoshida I, McCabe ER. Dipple KM, et al. Hum Genet. 2001 Jul;109(1):55-62. doi: 10.1007/s004390100545. Hum Genet. 2001. PMID: 11479736

3

Lys650Met substitution in the tyrosine kinase domain of the fibroblast growth factor receptor gene causes thanatophoric dysplasia Type I. Mutations in brief no. 199. Online.

Kitoh H, Brodie SG, Kupke KG, Lachman RS, Wilcox WR. Kitoh H, et al. Hum Mutat. 1998;12(5):362-3. Hum Mutat. 1998. PMID: 10671061

4

Asymptomatic isolated human glycerol kinase deficiency associated with splice-site mutations and nonsense-mediated decay of mutant RNA.

Zhang YH, Huang BL, Jialal I, Northrup H, McCabe ER, Dipple KM. Zhang YH, et al. Pediatr Res. 2006 Apr;59(4 Pt 1):590-2. doi: 10.1203/01.pdr.0000203092.83074.eb. Pediatr Res. 2006. PMID: 16549535

5

Nine novel mutations in NR0B1 (DAX1) causing adrenal hypoplasia congenita.

Zhang YH, Huang BL, Anyane-Yeboa K, Carvalho JA, Clemons RD, Cole T, De Figueiredo BC, Lubinsky M, Metzger DL, Quadrelli R, Repaske DR, Reyno S, Seaver LH, Vaglio A, Van Vliet G, McCabe LL, McCabe ER, Phelan JK. Zhang YH, et al. Hum Mutat. 2001 Dec;18(6):547. doi: 10.1002/humu.1236. Hum Mutat. 2001. PMID: 11748852

6

Subtle radiographic findings of achondroplasia in patients with Crouzon syndrome with acanthosis nigricans due to an Ala391Glu substitution in FGFR3.

Schweitzer DN, Graham JM Jr, Lachman RS, Jabs EW, Okajima K, Przylepa KA, Shanske A, Chen K, Neidich JA, Wilcox WR. Schweitzer DN, et al. Am J Med Genet. 2001 Jan 1;98(1):75-91. Am J Med Genet. 2001. PMID: 11426459

7

Thanatophoric dysplasia type I with syndactyly.

Brodie SG, Kitoh H, Lipson M, Sifry-Platt M, Wilcox WR. Brodie SG, et al. Am J Med Genet. 1998 Nov 16;80(3):260-2. doi: 10.1002/(sici)1096-8628(19981116)80:3<260::aid-ajmg15>3.0.co;2-s. Am J Med Genet. 1998. PMID: 9843049

8

Platyspondylic lethal skeletal dysplasia, San Diego type, is caused by FGFR3 mutations.

Brodie SG, Kitoh H, Lachman RS, Nolasco LM, Mekikian PB, Wilcox WR. Brodie SG, et al. Am J Med Genet. 1999 Jun 11;84(5):476-80. Am J Med Genet. 1999. PMID: 10360402

9

AluY insertion (IVS4-52ins316alu) in the glycerol kinase gene from an individual with benign glycerol kinase deficiency.

Zhang Y, Dipple KM, Vilain E, Huang BL, Finlayson G, Therrell BL, Worley K, Deininger P, McCabe ER. Zhang Y, et al. Hum Mutat. 2000;15(4):316-23. doi: 10.1002/(SICI)1098-1004(200004)15:4<316::AID-HUMU3>3.0.CO;2-9. Hum Mutat. 2000. PMID: 10737976

10

DAX1 and its network partners: exploring complexity in development.

Clipsham R, McCabe ER. Clipsham R, et al. Mol Genet Metab. 2003 Sep-Oct;80(1-2):81-120. doi: 10.1016/j.ymgme.2003.08.023. Mol Genet Metab. 2003. PMID: 14567960 Review.

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