Scientific Commons: H. Kremer

Introduction and aim: Tinnitus is a common condition affecting approximately 20% of the older population. There is increasing evidence that changes in the central auditory system following cochlear...

Longitudinal phenotypic analysis in patients with connexin 26 (GJB2) (DFNB1) and connexin 30 (GJB6) mutations (2004)

Kremer, H, Van Wijk, E, Hoefsloot, LH, Huygen, PLM, Standaert, L, ...

In 15 Belgian subjects with prelingual sensorineural hearing impairment, the connexin 26 (GJB2) gene and the connexin 30 (GJB6) gene were analyzed for the presence of the 35delG mutation and the...

A locus on chromosome 15q for a dominantly inherited nemaline myopathy with core-like lesions (2003)

GOMMANS, IMP, DAVIS, M, SAAR, K, Lammens, Martin, MASTAGLIA, F, LAMONT, P, ...

A locus on chromosome 15q for a dominantly inherited nemaline myopathy with core-like lesions (2003)

Gommans, I. M. P., Davis, M., Saar, K., Lammens, M., Mastaglia, F., Lamont, P., ...

Nemaline myopathy is a congenital neuromuscular disorder characterized by muscle weakness and the presence of nemaline rods. Five genes have now been associated with nemaline myopathy:...

A locus on chromosome 15q for a dominantly inherited nemaline myopathy with core-like lesions (2003)

Gommans, I. M. P., Davis, M., Saar, K., Lammens, M., Mastaglia, F., Lamont, P., ...

Nemaline myopathy is a congenital neuromuscular disorder characterized by muscle weakness and the presence of nemaline rods. Five genes have now been associated with nemaline myopathy:...

A locus on chromosome 15q for a dominantly inherited nemaline myopathy with core-like lesions (2003)

Gommans, I. M. P., Davis, M., Saar, K., Lammens, M., Mastaglia, F., Lamont, P., ...

Nemaline myopathy is a congenital neuromuscular disorder characterized by muscle weakness and the presence of nemaline rods. Five genes have now been associated with nemaline myopathy:...

Fine mapping of the neurally expressed gene SOX14 to human 3q23, relative to three congenital diseases (2000)

Hargrave, M., James, K. M., Nield, K., Toomes, C., Georgas, K. M., Sullivan, T., ...

Members of the Sos gene family encode transcription factors that have diverse and important functions during development. We have recently described the cloning of chick and mouse Sox14 and the...

Fine mapping of the neurally expressed gene SOX14 to human 3q23, relative to three congenital diseases (2000)

Hargrave, M., James, K. M., Nield, K., Toomes, C., Georgas, K. M., Sullivan, T., ...

Members of the Sos gene family encode transcription factors that have diverse and important functions during development. We have recently described the cloning of chick and mouse Sox14 and the...

The natural history of hereditary neuralgic amyotrophy in the Dutch population: Two distinct types? (2000)

Van Alfen, N., Reinders, J. W. C., Kremer, H., Gabreëls, F. J. M.

On investigation of 101 attacks in 24 patients with hereditary neuralgic amyotrophy (HNA) from nine different families, we found that HNA can run two distinct courses: a `classic'...

X-linked nonspecific mental retardation (MRX) linkage studies in 25 unrelated families: the European XLMR consortium (1999)

Beldjord, C, Chelly, J, Hamel, B, Kremer, H, Smits, A, ...

Localisation of the gene for a dominant congenital spinal muscular atrophy predominantly affecting the lower limbs to chromosome 12q23-q24 (1998)

Kremer, H., Padberg, G.W., Hageman, G., Smits, A.P.T., Frijns, C.J.M., ...

Further delineation of the critical region for Noonan syndrome on the long arm of chromosome 12 (1997)

Jeffery, S., Patton, M.A., Mariman, E., Kremer, H., Reen, M. Van, Crosby, A., ...

Germline mutations in the PTEN/MMAC1 gene in patients with Cowden disease (1997)

Kremer, H., Padberg, G.W., Mariman, E.C.M., Woods, D.G., Sijmons, R.H., ...

Naturally occurring testis-specific histone H3 antisense transcripts in Drosophila (1997)

Hennig, W., Miedema, K., Kremer, H., Akhmanova, A.

Two types of polyadenated mRNAs are synthesized from Drosophila replication-dependent histone genes (1997)

Hennig, W., Kremer, H., Miedema, K., Akhmanova, A.

A Laser-based Study of Kerosine Evaporation and Mixing in a Premix Duct for Gas Turbines at Elevated Pressures (1997)

Brandt, M., Heeren, A., Eckart, D., Kremer, H., Ridder, M., Sick, V.

Germline mutations in the PTEN/MMAC1 gene in patients with Cowden disease (1997)

Nelen, MR, Van Staveren, WC, Peeters, EA, Hassel, MB, Gorlin, RJ, Hamm, H, ...

Genetic fine mapping of the gene for recessive Stargardt disease (1996)

Cremers, F.P.M., Deutman, A.F., Kremer, H., Poppelaars, F., ...

Ichthyosis bullosa of Siemens : a distinct type of epidermolytic hyperkeratosis (1996)

Ulrich, R., Steijlen, P.M., Reinel, D., Mensing, H., Kremer, H., Happle, R., ...

Localization of a gene for Möbius syndrome to chromosome 3q by linkage analysis in a Dutch family (1996)

Frants, R.R., Mariman, E.C.M., Jansen, C., Hamel, B.C.J., Leunissen, J.A.M., ...

Localization of the gene (or genes) for a syndrome with X-linked mental retardation, ataxia, weakness, hearing impairment, loss of vision and a fatal course in early childhood (1996)

Mariman, E.C.M., Sistermans, E.A., Wijs, I.J. De, Arts, W.F.M., Helm, B. Van Den, ...

Localization of the gene for Cowden disease to chromosome 10q22-23 (1996)

Eng, C., Longy, M., Kremer, H., Ropers, H.H., Ponder, B.A.J., Starink, T.M., ...

Localization of a gene for Mobius syndrome to chromosome 3q by linkage analysis in a Dutch family (1996)

Kremer, H, Kuyt, LP, Van Reen, M, Leunissen, JA, Hamel, BC, ...

Structure and Expression of Histone H3.3 Genes in Drosophila-Melanogaster and Drosophila-Hydei (1995)

Hennig, W., Kremer, H., Miedema, K., Xu, J., Bindels, P.C.T., Akhmanova, A.S.

Protocol design usign LOTOS: A critical synthesis of a standardization experience (1993)

Kremer, H., Lagemaat, J., Rennoch, A., Scollo, G.

Isolation and characterization of a Drosophila hydei histone DNA repeat unit.

Kremer, H, Hennig, W

Histone genes in D. hydei are organized in tandemly repeated clusters., accomodating in total 120-140 repeat units. We cloned one of the repeat units and analysed the nucleotide sequence. The repeat...

The gene for hypotrichosis of Marie Unna maps between D8S258 and D8S298: exclusion of the hr gene by cDNA and genomic sequencing.

Van Steensel, M, Smith, F J, Steijlen, P M, Kluijt, I, Stevens, H P, Messenger, A, ...

Hypotrichosis of Marie Unna (MU) is an autosomal dominant hair-loss disorder with onset in childhood. A genomewide search for the gene was performed in a large Dutch family using 400 fluorescent...

A second gene for autosomal dominant Möbius syndrome is localized to chromosome 10q, in a Dutch family.

Verzijl, H T, Veldman, B, Hamel, B C, Kuyt, L P, Padberg, G W, ...

Möbius syndrome (MIM 157900) consists of a congenital paresis or paralysis of the VIIth (facial) cranial nerve, frequently accompanied by dysfunction of other cranial nerves. The abducens nerve is...

Isolation and characterization of a Drosophila hydei histone DNA repeat unit.

Kremer, H, Hennig, W

Histone genes in D. hydei are organized in tandemly repeated clusters., accomodating in total 120-140 repeat units. We cloned one of the repeat units and analysed the nucleotide sequence. The repeat...

CDH23 Mutation and Phenotype Heterogeneity: A Profile of 107 Diverse Families with Usher Syndrome and Nonsyndromic Deafness

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...

The gene for hypotrichosis of Marie Unna maps between D8S258 and D8S298: exclusion of the hr gene by cDNA and genomic sequencing.

Van Steensel, M, Smith, F J, Steijlen, P M, Kluijt, I, Stevens, H P, Messenger, A, ...

Hypotrichosis of Marie Unna (MU) is an autosomal dominant hair-loss disorder with onset in childhood. A genomewide search for the gene was performed in a large Dutch family using 400 fluorescent...

A second gene for autosomal dominant Möbius syndrome is localized to chromosome 10q, in a Dutch family.

Verzijl, H T, Veldman, B, Hamel, B C, Kuyt, L P, Padberg, G W, ...

Möbius syndrome (MIM 157900) consists of a congenital paresis or paralysis of the VIIth (facial) cranial nerve, frequently accompanied by dysfunction of other cranial nerves. The abducens nerve is...

Localisation of a gene for non-specific X linked mental retardation (MRX46) to Xq25-q26.

Yntema, H G, Hamel, B C, Smits, A P, Van Roosmalen, T, Kremer, H, ...

We report linkage data on a new large family with non-specific X linked mental retardation (MRX), using 24 polymorphic markers covering the entire X chromosome. We could assign the underlying disease...

A new X linked neurodegenerative syndrome with mental retardation, blindness, convulsions, spasticity, mild hypomyelination, and early death maps to the pericentromeric region

Hamel, B., Wesseling, P., Renier, W., Ropers, H., Kremer, H., ...

We report on a family with an X linked neurodegenerative disorder consisting of mental retardation, blindness, convulsions, spasticity, and early death. Neuropathological examination showed mild...

Detailed mapping, mutation analysis, and intragenic polymorphism identification in candidate Noonan syndrome genes MYL2, DCN, EPS8, and RPL6

ION, A, CROSBY, A, KREMER, H, KENMOCHI, N, VAN REEN, M, FENSKE, C, ...

Mutation analysis in the candidate Möbius syndrome genes PGT and GATA2 on chromosome 3 and EGR2 on chromosome 10

Verzijl, H, D Beltran-Valero,, Schuster, V, Van Bokhoven, H, Kremer, H, ...

A mutation in the gamma actin 1 (ACTG1) gene causes autosomal dominant hearing loss (DFNA20/26)

Van Wijk, E, Krieger, E, Kemperman, M, Huygen, P, Cremers, C, ...

Linkage analysis in a multigenerational family with autosomal dominant hearing loss yielded a chromosomal localisation of the underlying genetic defect in the DFNA20/26 locus at 17q25-qter. The 6-cM...

Family history and DNA analysis in patients with suspected Huntington's disease

Siesling, S, Losekoot, M, Belfroid, R, Maat-Kievit, J, Kremer, H, ...

OBJECTIVES—Until recently a definite diagnosis of Huntington's disease could be made by a combination of clinical findings, a positive family history, and pathological confirmation. Prevalence data...

A novel locus for autosomal dominant non-syndromic hearing loss, DFNA31, maps to chromosome 6p21.3

Snoeckx, R, Kremer, H, Ensink, R, Flothmann, K, De Brouwer, A, Smith, R, ...

Objective:To investigate the genes involved in a Dutch family with NSSHL.

Imaging Huntington's disease (HD) brains – imagine HD trials!

Kremer, H

H. Kremer

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