Spranger J - Search Results

1

Genetic and phenotypic heterogeneity in KIAA0753-related ciliopathies.

Inskeep KA, Zarate YA, Monteil D, Spranger J, Doherty D, Stottmann RW, Weaver KN. Inskeep KA, et al. Among authors: spranger j. Am J Med Genet A. 2022 Jan;188(1):104-115. doi: 10.1002/ajmg.a.62497. Epub 2021 Sep 15. Am J Med Genet A. 2022. PMID: 34523780 Free PMC article.

2

PIGQ glycosylphosphatidylinositol-anchored protein deficiency: Characterizing the phenotype.

Starr LJ, Spranger JW, Rao VK, Lutz R, Yetman AT. Starr LJ, et al. Among authors: spranger jw. Am J Med Genet A. 2019 Jul;179(7):1270-1275. doi: 10.1002/ajmg.a.61185. Epub 2019 May 30. Am J Med Genet A. 2019. PMID: 31148362

3

Cerebral malformation, seizures, hypertrichosis, distinct face, claw hands, and overlapping fingers in sibs of both sexes.

Müller FM, Barth GM, Menger H, Spranger J. Müller FM, et al. Among authors: spranger j. Am J Med Genet. 1993 Oct 1;47(5):698-701. doi: 10.1002/ajmg.1320470522. Am J Med Genet. 1993. PMID: 8266998

4

Spondyloenchondrodysplasia.

Menger H, Kruse K, Spranger J. Menger H, et al. Among authors: spranger j. J Med Genet. 1989 Feb;26(2):93-9. doi: 10.1136/jmg.26.2.93. J Med Genet. 1989. PMID: 2918547 Free PMC article.

5

Vitamin K deficiency embryopathy: a phenocopy of the warfarin embryopathy due to a disorder of embryonic vitamin K metabolism.

Menger H, Lin AE, Toriello HV, Bernert G, Spranger JW. Menger H, et al. Among authors: spranger jw. Am J Med Genet. 1997 Oct 17;72(2):129-34. Am J Med Genet. 1997. PMID: 9382132

6

Chondrodysplasia punctata, tibia-metacarpal (MT) type.

Rittler M, Menger H, Spranger J. Rittler M, et al. Among authors: spranger j. Am J Med Genet. 1990 Oct;37(2):200-8. doi: 10.1002/ajmg.1320370208. Am J Med Genet. 1990. PMID: 2248286

7

Phenotypic features of carbohydrate sulfotransferase 3 (CHST3) deficiency in 24 patients: congenital dislocations and vertebral changes as principal diagnostic features.

Unger S, Lausch E, Rossi A, Mégarbané A, Sillence D, Alcausin M, Aytes A, Mendoza-Londono R, Nampoothiri S, Afroze B, Hall B, Lo IF, Lam ST, Hoefele J, Rost I, Wakeling E, Mangold E, Godbole K, Vatanavicharn N, Franco LM, Chandler K, Hollander S, Velten T, Reicherter K, Spranger J, Robertson S, Bonafé L, Zabel B, Superti-Furga A. Unger S, et al. Among authors: spranger j. Am J Med Genet A. 2010 Oct;152A(10):2543-9. doi: 10.1002/ajmg.a.33641. Am J Med Genet A. 2010. PMID: 20830804

8

An unknown spondylo-meta-epiphyseal dysplasia in sibs with extreme short stature.

Menger H, Mundlos S, Becker K, Spranger J, Zabel B. Menger H, et al. Among authors: spranger j. Am J Med Genet. 1996 May 3;63(1):80-3. doi: 10.1002/(SICI)1096-8628(19960503)63:1<80::AID-AJMG16>3.0.CO;2-Q. Am J Med Genet. 1996. PMID: 8723091

9

Previously undescribed syndrome of spondylometaphyseal dysplasia, osteocartilaginous metaplasia of long bones, and progressive osteolysis of distal phalanges.

Osebold WR, Poznanski AK, Opitz JM, Langer LO Jr, Spranger JW, Unni KK. Osebold WR, et al. Among authors: spranger jw. Am J Med Genet. 1998 Nov 16;80(3):187-95. doi: 10.1002/(sici)1096-8628(19981116)80:3<187::aid-ajmg1>3.0.co;2-#. Am J Med Genet. 1998. PMID: 9843035

10

A specific collagen type II gene (COL2A1) mutation presenting as spondyloperipheral dysplasia.

Zabel B, Hilbert K, Stöss H, Superti-Furga A, Spranger J, Winterpacht A. Zabel B, et al. Among authors: spranger j. Am J Med Genet. 1996 May 3;63(1):123-8. doi: 10.1002/(SICI)1096-8628(19960503)63:1<123::AID-AJMG22>3.0.CO;2-P. Am J Med Genet. 1996. PMID: 8723097

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