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The Journal of Biological Chemistry|August 30, 1996
Multiexon deletions in the type I collagen COL1A2 gene in osteogenesis imperfecta type IB. Molecules containing the shortened alpha2(I) chains show differential incorporation into the bone and skin extracellular matrixS Mundlos, D Chan, Y M Weng, et al.
Clinical Genetics|July 12, 2008
Triangular tibia with fibular aplasia associated with a microdeletion on 2q11.2 encompassing LAF4E Steichen-Gersdorf, I Gassner, A Superti-Furga, et al.
Genetic Counseling (Geneva, Switzerland)|February 26, 2013
EEC syndrome with a de novo mutation (c.953g > a) on exon 7 of P63 gene: a case reportM Okur, R Eroz, S Mundlos, et al.
Polish Journal of Pathology : Official Journal of the Polish Society of Pathologists|May 15, 2016
Identification of a molecular defect in a stillborn fetus with perinatal lethal hypophosphatasia using a disease-associated genome sequencing approachE M Olech, T Zemojtel, A Sowińska-Seidler, et al.
Prenatal Diagnosis|May 1, 1996
Prenatal identification of a heterozygous status in two fetuses at risk for glucose-galactose malabsorptionM G Martín, E Turk, C Kerner, et al.
Cytogenetics and Cell Genetics|August 31, 2001
Genomic imbalances in 61 renal cancers from the proximal tubulus detected by comparative genomic hybridizationD Reutzel, M Mende, S Naumann, et al.
Monatsschrift Kinderheilkunde : Organ Der Deutschen Gesellschaft Fur Kinderheilkunde|May 1, 1989
[Simultaneous double fluorescence flow cytometry of lysed whole blood for prenatal diagnosis of combined immunodeficiency]O Schofer, F Zepp, E März, et al.
European Journal of Human Genetics : EJHG|April 26, 2000
FISH mapping of the sex-reversal region on human chromosome 9p in two XY females and in primatesZ Shan, B Zabel, U Trautmann, et al.
Human Molecular Genetics|January 1, 1995
Genetic mapping of cleidocranial dysplasia and evidence of a microdeletion in one familyS Mundlos, J B Mulliken, D L Abramson, et al.
American Journal of Medical Genetics. Part A|November 13, 2007
A familial case of achondrogenesis type II caused by a dominant COL2A1 mutation and "patchy" expression in the mosaic fatherF Forzano, M Lituania, A Viassolo, et al.
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