Cremers, C.W.R.J., Marres, H.A.M., Tinley, S., Ing, P.S., Pinnt, J., Sumegi, J., ...
Stabiel en progressief gehoorverlies bij Usher-syndroom type 2A (1996)
Cremers, C.W.R.J., Kimberling, W.J., Bleeker-Wagemakers, E.M., Pinckers, A.J.H.G., Huygen, P.L.M., Aarem, A. Van
Stabiel en progressief gehoorverlies bij het Usher syndroom, type 2A. (1996)
Cremers, C.W.R.J., Kimberling, W.J., Bleeker-Wagemakers, E.M., Pinckers, A.J.L.G., Huygen, P.L.M., Aarem, A., Van
Stable and progressive hearing loss in type 2A Usher's syndrome (1996)
Cremers, C.W.R.J., Kimberling, W.J., Bleeker-Wagemakers, E.M., Pinckers, A.J.L.G., Huygen, P.L.M., Aarem, A., Van
Stable and progressive hearing loss in type 2A Ushers syndrome (1996)
Cremers, C.W.R.J., Kimberling, W.J., Bleeker-Wagemakers, E.M., Pinckers, A.J.L.G., Huygen, P.L.M., Aarem, A., Van
Carriers of the Usher type IB: Is audiometric identification possible? (1996)
Cremers, C.W.R.J., Kimberling, W.J., Snik, A.F.M., Wagenaar, M.
Ophthalmic findings in Usher syndrome type 2A (1995)
Cremers, C.W.R.J., Kimberling, W.J., Bleeker-Wagemakers, E.M., Huygen, P.L.M., Pinckers, A.J.L.G., Wagenaar, M., ...
The Usher syndrome type 2A. Clinical findings in obligate carriers (1995)
Kimberling, W.J., Hombergen, G.C.J., Huygen, P.L.M., Pinckers, A.J.L.G., Cremers, C.W.R.J., Aarem, A., Van
The Usher syndrome type 2A: clinical findings in obligate carriers (1995)
Kimberling, W.J., Hombergen, G.C.J., Huygen, P.L.M., Pinckers, A.J.L.G., Cremers, C.W.R.J., Aarem, A., Van
Clinical findings in obligate carriers carriers of type I usher syndrome (1995)
Creemers, M.C.W., Kimberling, W.J., Pinckers, A.J.L.G., Bleeker-Wagemakers, E.M., Admiraal, R.J.C., Huygen, P.L.M., ...
Clinical findings in obligate carriers of type I Usher syndrome (1995)
Cremers, C.W.R.J., Kimberling, W.J., Pinckers, A.J.L.G., Bleeker-Wagemakers, E.M., Admiraal, R.J.C., Huygen, P.L.M., ...
Gene linkage and genetic deafness (1995)
Kimberling, W.J., Read, A., Brunner, H.G., Steel, K.P., Brown, S.D.M., Cremers, C.W.R.J.
Gene linkage and genetic deafness. (1995)
Kimberling, W.J., Read, A., Brunner, H.G., Steel, K.P., Brown, S.D.M., Cremers, C.W.R.J.
Defective myosin VIIA gene responsible for Usher syndrome type 1B (1995)
Petit, C., Brown, S.D.M., Steel, K.P., Munnich, A., Larget-Piet, D., Levi-Acobas, F., ...
Novel mutations in the connexin 26 gene (GJB2) that cause autosomal recessive (DFNB1) hearing loss.
Kelley, P M, Harris, D J, Comer, B C, Askew, J W, Fowler, T, Smith, S D, ...
Mutations in the connexin 26 (Cx26) gene (GJB2) are associated with the type of autosomal recessive nonsyndromic neurosensory deafness known as "DFNB1." Studies indicate that DFNB1 (13q11-12) causes...
Kumar, S, Deffenbacher, K, Marres, H A, Cremers, C W, Kimberling, W J
Branchio-oto-renal (BOR) syndrome is characterized by ear malformations, cervical fistulas, hearing loss, and renal anomalies. It is an autosomal dominant disorder with variable clinical...
Astuto, L. M., Bork, J. M., Weston, M. D., Askew, J. W., Fields, R. R., Orten, D. J., ...
Usher syndrome type I is characterized by congenital hearing loss, retinitis pigmentosa (RP), and variable vestibular areflexia. Usher syndrome type ID, one of seven Usher syndrome type I genetic...
Novel mutations in the connexin 26 gene (GJB2) that cause autosomal recessive (DFNB1) hearing loss.
Kelley, P M, Harris, D J, Comer, B C, Askew, J W, Fowler, T, Smith, S D, ...
Mutations in the connexin 26 (Cx26) gene (GJB2) are associated with the type of autosomal recessive nonsyndromic neurosensory deafness known as "DFNB1." Studies indicate that DFNB1 (13q11-12) causes...
Kumar, S, Deffenbacher, K, Marres, H A, Cremers, C W, Kimberling, W J
Branchio-oto-renal (BOR) syndrome is characterized by ear malformations, cervical fistulas, hearing loss, and renal anomalies. It is an autosomal dominant disorder with variable clinical...
Double aneuploidy: the frequency of XXY in males with Down's syndrome.
Hecht, F, Nievaard, J E, Duncanson, N, Miller, J R, Higgins, J V, Kimberling, W J, ...
Kimberling, W J, Fulbeck, T, Dixon, L, Lubs, H A
Significant linkage was found between spherocytosis and a translocation involving the short arms of chromosomes 8 and 12. The gene for spherocytosis, therefore, is likely either very close to the...
Myosin VIIA mutation screening in 189 Usher syndrome type 1 patients.
Weston, M. D., Kelley, P. M., Overbeck, L. D., Wagenaar, M., Orten, D. J., Hasson, T., ...
Usher syndrome type 1b (USH1B) is an autosomal recessive disorder characterized by congenital profound hearing loss, vestibular abnormalities, and retinitis pigmentosa. The disorder has recently been...
Kumar, S., Kimberling, W. J., Connolly, C. J., Tinley, S., Marres, H. A., Cremers, C. W.
Branchio-oto-renal syndrome (BOR) is an autosomal dominant disorder associated with external-, middle-, and inner-ear malformations, branchial cleft sinuses, cervical fistulas, mixed hearing loss,...
Genetic heterogeneity of Usher syndrome type II.
Pieke Dahl, S, Kimberling, W J, Gorin, M B, Weston, M D, Furman, J M, Pikus, A, ...
Usher syndrome is an autosomal recessive disorder characterised by retinitis pigmentosa and congenital sensorineural hearing loss. A gene for Usher syndrome type II (USH2) has been localised to...
Kumar, S, Kimberling, W J, Gabow, P A, Shugart, Y Y, Pieke-Dahl, S
Autosomal dominant polycystic kidney disease is a heritable disorder and recent studies have shown genetic heterogeneity, with some, but not all, families showing linkage with markers on chromosome...
Phenotypic variation in the familial atypical multiple mole-melanoma syndrome (FAMMM).
Lynch, H T, Fusaro, R M, Albano, W A, Pester, J, Kimberling, W J, Lynch, J F
The familial atypical multiple mole-melanoma syndrome (FAMMM) is characterised by an autosomal dominantly inherited susceptibility to multiple atypical moles which show variable colouration ranging...
Familial atypical multiple mole-melanoma (FAMMM) syndrome: segregation analysis.
Lynch, H T, Fusaro, R M, Kimberling, W J, Lynch, J F, Danes, B S
Genetic analysis was performed on four kindreds with clinical and pathological verification of the FAMMM syndrome. There were 80 affected or at risk members in these families. A segregation ratio of...
Breast cancer, genetics, and age at first pregnancy.
Lynch, H T, Albano, W A, Layton, M A, Kimberling, W J, Lynch, J F
Hereditary breast cancer shows a distinctive natural history characterised by an earlier age of onset, excess bilaterality, vertical transmission, heterogeneous tumour associations, and improved...
Genetic heterogeneity of Usher syndrome type II in a Dutch population.
Pieke-Dahl, S, Van Aarem, A, Dobin, A, Cremers, C W, Kimberling, W J
The Usher syndromes are a group of autosomal recessive disorders characterised by retinitis pigmentosa (RP) with congenital, stable (non-progressive) sensorineural hearing loss. Profound deafness,...