Eich G - Search Results

1

Homozygosity for a novel DTDST mutation in a child with a 'broad bone-platyspondylic' variant of diastrophic dysplasia.

Mégarbané A, Haddad FA, Haddad-Zebouni S, Achram M, Eich G, Le Merrer M, Superti-Furga A. Mégarbané A, et al. Among authors: eich g. Clin Genet. 1999 Jul;56(1):71-6. doi: 10.1034/j.1399-0004.1999.560110.x. Clin Genet. 1999. PMID: 10466420

2

Recessively inherited multiple epiphyseal dysplasia with normal stature, club foot, and double layered patella caused by a DTDST mutation.

Superti-Furga A, Neumann L, Riebel T, Eich G, Steinmann B, Spranger J, Kunze J. Superti-Furga A, et al. Among authors: eich g. J Med Genet. 1999 Aug;36(8):621-4. J Med Genet. 1999. PMID: 10465113 Free PMC article.

3

RMRP gene sequence analysis confirms a cartilage-hair hypoplasia variant with only skeletal manifestations and reveals a high density of single-nucleotide polymorphisms.

Bonafé L, Schmitt K, Eich G, Giedion A, Superti-Furga A. Bonafé L, et al. Among authors: eich g. Clin Genet. 2002 Feb;61(2):146-51. doi: 10.1034/j.1399-0004.2002.610210.x. Clin Genet. 2002. PMID: 11940090

4

Boy with syndactylies, macrocephaly, and severe skeletal dysplasia: not a new syndrome, but two dominant mutations (GLI3 E543X and COL2A1 G973R) in the same individual.

Sobetzko D, Eich G, Kalff-Suske M, Grzeschik KH, Superti-Furga A. Sobetzko D, et al. Among authors: eich g. Am J Med Genet. 2000 Jan 31;90(3):239-42. Am J Med Genet. 2000. PMID: 10678662

5

Schwartz-Jampel syndrome type 2 and Stüve-Wiedemann syndrome: a case for "lumping".

Superti-Furga A, Tenconi R, Clementi M, Eich G, Steinmann B, Boltshauser E, Giedion A. Superti-Furga A, et al. Among authors: eich g. Am J Med Genet. 1998 Jun 30;78(2):150-4. doi: 10.1002/(sici)1096-8628(19980630)78:2<150::aid-ajmg10>3.0.co;2-m. Am J Med Genet. 1998. PMID: 9674906

6

A recurrent R718W mutation in COMP results in multiple epiphyseal dysplasia with mild myopathy: clinical and pathogenetic overlap with collagen IX mutations.

Jakkula E, Lohiniva J, Capone A, Bonafe L, Marti M, Schuster V, Giedion A, Eich G, Boltshauser E, Ala-Kokko L, Superti-Furga A. Jakkula E, et al. Among authors: eich g. J Med Genet. 2003 Dec;40(12):942-8. doi: 10.1136/jmg.40.12.942. J Med Genet. 2003. PMID: 14684695 Free PMC article. No abstract available.

7

Spondyloenchondrodysplasia with spasticity, cerebral calcifications, and immune dysregulation: clinical and radiographic delineation of a pleiotropic disorder.

Renella R, Schaefer E, LeMerrer M, Alanay Y, Kandemir N, Eich G, Costa T, Ballhausen D, Boltshauser E, Bonafé L, Giedion A, Unger S, Superti-Furga A. Renella R, et al. Among authors: eich g. Am J Med Genet A. 2006 Mar 15;140(6):541-50. doi: 10.1002/ajmg.a.31081. Am J Med Genet A. 2006. PMID: 16470600

8

Infantile systemic hyalinosis in siblings: clinical report, biochemical and ultrastructural findings, and review of the literature.

Stucki U, Spycher MA, Eich G, Rossi A, Sacher P, Steinmann B, Superti-Furga A. Stucki U, et al. Among authors: eich g. Am J Med Genet. 2001 Apr 22;100(2):122-9. doi: 10.1002/1096-8628(20010422)100:2<122::aid-ajmg1236>3.0.co;2-0. Am J Med Genet. 2001. PMID: 11298373

9

Diagnosis of skeletal dysplasia by multidisciplinary assessment: a report of two cases of thanatophoric dysplasia.

Kölble N, Sobetzko D, Ersch J, Stallmach T, Eich G, Huch R, Huch A, Superti-Furga A, Wisser J. Kölble N, et al. Among authors: eich g. Ultrasound Obstet Gynecol. 2002 Jan;19(1):92-8. doi: 10.1046/j.0960-7692.2001.00496.x. Ultrasound Obstet Gynecol. 2002. PMID: 11851976 Free article.

10

A glycine 375-to-cysteine substitution in the transmembrane domain of the fibroblast growth factor receptor-3 in a newborn with achondroplasia.

Superti-Furga A, Eich G, Bucher HU, Wisser J, Giedion A, Gitzelmann R, Steinmann B. Superti-Furga A, et al. Among authors: eich g. Eur J Pediatr. 1995 Mar;154(3):215-9. doi: 10.1007/BF01954274. Eur J Pediatr. 1995. PMID: 7758520

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