Hornef, Nada, Olbrich, Heike, Horvath, Judit, Zariwala, Maimoona A., Fliegauf, Manfred, Loges, Niki Tomas, ...
Rationale: Primary ciliary dyskinesia (PCD) is characterized by recurrent airway infections and randomization of left–right body asymmetry. To date, autosomal recessive mutations have only been...
Hornef, Nada, Olbrich, Heike, Horvath, Judit, Zariwala, Maimoona A., Fliegauf, Manfred, Loges, Niki Tomas, ...
Rationale: Primary ciliary dyskinesia (PCD) is characterized by recurrent airway infections and randomization of left–right body asymmetry. To date, autosomal recessive mutations have only been...
The DNA sequence, annotation and analysis of human chromosome 3 (2006)
Muzny, Donna M., Scherer, Steven E., Kaul, Rajinder, Wang, Jing, Yu, Jun, ...
The DNA sequence, annotation and analysis of human chromosome 3 (2006)
Muzny, Donna M., Scherer, Steven E., Kaul, Rajinder, Wang, Jing, Yu, Jun, ...
The DNA sequence, annotation and analysis of human chromosome 3 (2006)
Muzny, Donna M., Scherer, Steven E., Kaul, Rajinder, Wang, Jing, Yu, Jun, ...
Hoefele, Julia, Sudbrak, Ralf, Reinhardt, Richard, Lehrack, Silvia, Hennig, Steffen, Imm, Anita, ...
Nephronophthisis (NPH), a recessive cystic kidney disease, is the most frequent genetic cause for end-stage renal disease in the first two decades of life. Mutations in three genes (NPHP1, 2, and 3)...
Mutational analysis of the NPHP4 gene in 250 patients with nephronophthisis (2005)
Hoefele, Julia, Sudbrak, Ralf, Reinhardt, Richard, Lehrack, Silvia, Hennig, Steffen, Imm, Anita, ...
Nephronophthisis (NPH), a recessive cystic kidney disease, is the most frequent genetic cause for end-stage renal disease in the first two decades of life. Mutations in three genes (NPHP1, 2, and 3)...
Horváth, Judit, Fliegauf, Manfred, Olbrich, Heike, Kispert, Andreas, King, Stephen M., Mitchison, Hannah, ...
Primary ciliary dyskinesia (PCD) is a genetically heterogeneous disorder characterized by chronic infections of the upper and lower airways, randomization of left/right body asymmetry, and reduced...
Otto, Edgar A, Loeys, Bart, Khanna, Hemant, Hellemans, Jan, Sudbrak, Ralf, Fan, Shuling, ...
Nephronophthisis (NPHP) is the most frequent genetic cause of chronic renal failure in children1, 2, 3. Identification of four genes mutated in NPHP subtypes 1−4 (refs. 4−9) has linked the...
Otto, Edgar A, Loeys, Bart, Khanna, Hemant, Hellemans, Jan, Sudbrak, Ralf, Fan, Shuling, ...
Nephronophthisis (NPHP) is the most frequent genetic cause of chronic renal failure in children1, 2, 3. Identification of four genes mutated in NPHP subtypes 1−4 (refs. 4−9) has linked the...
The DNA sequence of the human X chromosome (2005)
Sudbrak, Ralf, Beck, Alfred, Heitmann, Katja, Hennig, Steffen, Klages, Sven, Kosiura, Anna, ...
The human X chromosome has a unique biology that was shaped by its evolution as the sex chromosome shared by males and females. We have determined 99.3% of the euchromatic sequence of the X...
The DNA sequence of the human X chromosome (2005)
Sudbrak, Ralf, Beck, Alfred, Heitmann, Katja, Hennig, Steffen, Klages, Sven, Kosiura, Anna, ...
The human X chromosome has a unique biology that was shaped by its evolution as the sex chromosome shared by males and females. We have determined 99.3% of the euchromatic sequence of the X...
Mutational analysis of the NPHP4 gene in 250 patients with nephronophthisis (2005)
Hoefele, Julia, Sudbrak, Ralf, Reinhardt, Richard, Lehrack, Silvia, Hennig, Steffen, Imm, Anita, ...
Nephronophthisis (NPH), a recessive cystic kidney disease, is the most frequent genetic cause for end-stage renal disease in the first two decades of life. Mutations in three genes (NPHP1, 2, and 3)...
Horváth, Judit, Fliegauf, Manfred, Olbrich, Heike, Kispert, Andreas, King, Stephen M., Mitchison, Hannah, ...
Primary ciliary dyskinesia (PCD) is a genetically heterogeneous disorder characterized by chronic infections of the upper and lower airways, randomization of left/right body asymmetry, and reduced...
The genomic sequence and comparative analysis of the rat major histocompatibility complex (2004)
Hurt,Peter, Walter,Lutz, Sudbrak,Ralf, Klages,Sven, Mueller,Ines, Shiina,Takashi, ...
We have determined the sequence of a 4-Mb interval on rat chromosome 20p12 that encompasses the rat major histocompatibility complex (MHC). This is the first report of a finished sequence for a...
Plasticity of human chromosome 3 during primate evolution (2004)
Tsend-Ayush,Enkhjargal, Grützner,Frank, Yue,Ying, Grossmann,Bärbel, Hänsel,Ulrike, Sudbrak,Ralf, ...
Comparative mapping of more than 100 region-specific clones from human chromosome 3 in Bornean and Sumatran orangutans, siamang gibbon, and Old and New World monkeys allowed us to reconstruct...
Vergleichende Sequenzierung von Kandidatengenen : die Resequencing-Plattform am MPI-MG (2004)
Timmermann,Bernd, Sauer,Sascha, Omran,Heymut, Sudbrak,Ralf, Reinhardt,Richard
The genomic sequence and comparative analysis of the rat major histocompatibility complex (2004)
Hurt, Peter, Walter, Lutz, Sudbrak, Ralf, Klages, Sven, Mueller, Ines, Shiina, Takashi, ...
We have determined the sequence of a 4-Mb interval on rat chromosome 20p12 that encompasses the rat major histocompatibility complex (MHC). This is the first report of a finished sequence for a...
Vergleichende Sequenzierung von Kandidatengenen : die Resequencing-Plattform am MPI-MG (2004)
Timmermann, Bernd, Sauer, Sascha, Omran, Heymut, Sudbrak, Ralf, Reinhardt, Richard
Plasticity of human chromosome 3 during primate evolution (2004)
Tsend-Ayush, Enkhjargal, Grützner, Frank, Yue, Ying, Grossmann, Bärbel, Hänsel, Ulrike, Sudbrak, Ralf, ...
Comparative mapping of more than 100 region-specific clones from human chromosome 3 in Bornean and Sumatran orangutans, siamang gibbon, and Old and New World monkeys allowed us to reconstruct...
The Genomic Sequence and Comparative Analysis of the Rat Major Histocompatibility Complex (2004)
Hurt, Peter, Walter, Lutz, Sudbrak, Ralf, Klages, Sven, Müller, Ines, Shiina, Takashi, ...
We have determined the sequence of a 4-Mb interval on rat chromosome 20p12 that encompasses the rat major histocompatibility complex (MHC). This is the first report of a finished sequence for a...
Mutational analysis in nephronophthisis type 4. (2003)
Hoefele,J., Sudbrak,Ralf, Otto,E., Imm,A., O'Toole,J., Hildebrandt,F.
Olbrich,Heike, Fliegauf,Manfred, Hoefele,Julia, Kispert,Andreas, Otto,Edgar, Volz,Andreas, ...
Nephronophthisis (NPHP), a group of autosomal recessive cystic kidney disorders, is the most common genetic cause of progressive renal failure in children and young adults1. NPHP may be associated...
Comparative and evolutionary analysis of the rhesus macaque extended MHC class II region (2003)
Sudbrak,Ralf, Reinhardt,Richard, Hennig,Steffen, Lehrach,Hans, Gunther,Eberhard, Walter,Lutz
The sequence-based map of a part of the rhesus macaque major histocompatibility complex (MHC) extended class II region is presented. The sequenced region encompasses 67,401 bp and contains the...
Comparative and evolutionary analysis of the rhesus macaque extended MHC class II region (2003)
Sudbrak, Ralf, Reinhardt, Richard, Hennig, Steffen, Lehrach, Hans, Gunther, Eberhard, Walter, Lutz
The sequence-based map of a part of the rhesus macaque major histocompatibility complex (MHC) extended class II region is presented. The sequenced region encompasses 67,401 bp and contains the...
Olbrich, Heike, Fliegauf, Manfred, Hoefele, Julia, Kispert, Andreas, Otto, Edgar, Volz, Andreas, ...
Nephronophthisis (NPHP), a group of autosomal recessive cystic kidney disorders, is the most common genetic cause of progressive renal failure in children and young adults1. NPHP may be associated...
Mutational analysis in nephronophthisis type 4. (2003)
Hoefele, J., Sudbrak, Ralf, Otto, E., Imm, A., O'Toole, J., Hildebrandt, F.
Comparative and evolutionary analysis of the rhesus macaque extended MHC class II region (2002)
Sudbrak,Ralf, Reinhardt,Richard, Hennig,Steffen, Günther,Eberhard, Walter,Lutz
The sequence-based map of a part of the rhesus macaque major histocompatibility complex (MHC) extended class II region is presented. The sequenced region encompasses 67,401 bp and contains the...
Otto,Edgar, Hoefele,Julia, Ruf,Rainer, Mueller,Adelheid M., Hiller,Karl S., Wolf,Matthias T. F., ...
Nephronophthisis (NPHP) comprises a group of autosomal recessive cystic kidney diseases, which constitute the most frequent genetic cause for end-stage renal failure in children and young adults. The...
Otto,Edgar, Hoefele,Julia, Ruf,Rainer, Mueller,Adelheid M., Hiller,Karl S., Wolf,Matthias T. F., ...
Nephronophthisis (NPHP) comprises a group of autosomal recessive cystic kidney diseases, which constitute the most frequent genetic cause for end-stage renal failure in children and young adults. The...
Walter,Lutz, Peter Hurt,Peter, Himmelbauer,Heinz, Sudbrak,Ralf, Günther,Eberhard
Abstract. A contig of overlapping bacterial and P1-derived artificial chromosome (BAC, PAC) clones derived from the inbred rat strain BN was constructed that encompasses the class II and the class...
Dobson-Stone,Carol, Fairclough,Rebecca, Dunne,Eimear, Brown,Joanna, Dissanayake,Manel, Munro,Colin S., ...
Hailey-Hailey disease is an autosomal dominant skin disorder characterized by suprabasal cell separation (acantholysis) of the epidermis. Mutations in ATP2C1, the gene encoding a novel, P-type...
Mutations in DNAH5 cause primary ciliary dyskinesia and randomization of left–right asymmetry (2002)
Olbrich,Heike, Häffner,Karsten, Kispert,Andreas, Völkel,Alexander, Volz,Andreas, Sasmaz,Gürsel, ...
Primary ciliary dyskinesia (PCD, MIM 242650) is characterized by recurrent infections of the respiratory tract due to reduced mucociliary clearance and by sperm immobility. Half of the affected...
Mutations in DNAH5 cause primary ciliary dyskinesia and randomization of left–right asymmetry (2002)
Olbrich,Heike, Häffner,Karsten, Kispert,Andreas, Völkel,Alexander, Volz,Andreas, Sasmaz,Gürsel, ...
Primary ciliary dyskinesia (PCD, MIM 242650) is characterized by recurrent infections of the respiratory tract due to reduced mucociliary clearance and by sperm immobility. Half of the affected...
Mutations in DNAH5 cause primary ciliary dyskinesia and randomization of left–right asymmetry (2002)
Olbrich,Heike, Häffner,Karsten, Kispert,Andreas, Völkel,Alexander, Volz,Andreas, Sasmaz,Gürsel, ...
Primary ciliary dyskinesia (PCD, MIM 242650) is characterized by recurrent infections of the respiratory tract due to reduced mucociliary clearance and by sperm immobility. Half of the affected...
Schickel,Jörg, Stahn,Katharina, Zimmer,Klaus-Peter, Sudbrak,Ralf, Størm,Tim M., Dürst,Matthias, ...
Integrin-associated protein (IAP) is a widely expressed membrane protein with multiple functions in immunological and neuronal processes. Having physically mapped the IAP gene into a BAC/PAC contig...
Mutations in DNAH5 cause primary ciliary dyskinesia and randomization of left–right asymmetry (2002)
Olbrich, Heike, Häffner, Karsten, Kispert, Andreas, Völkel, Alexander, Volz, Andreas, Sasmaz, Gürsel, ...
Primary ciliary dyskinesia (PCD, MIM 242650) is characterized by recurrent infections of the respiratory tract due to reduced mucociliary clearance and by sperm immobility. Half of the affected...
Comparative and evolutionary analysis of the rhesus macaque extended MHC class II region (2002)
Sudbrak, Ralf, Reinhardt, Richard, Hennig, Steffen, Günther, Eberhard, Walter, Lutz
The sequence-based map of a part of the rhesus macaque major histocompatibility complex (MHC) extended class II region is presented. The sequenced region encompasses 67,401 bp and contains the...
Otto, Edgar, Hoefele, Julia, Ruf, Rainer, Mueller, Adelheid M., Hiller, Karl S., Wolf, Matthias T. F., ...
Nephronophthisis (NPHP) comprises a group of autosomal recessive cystic kidney diseases, which constitute the most frequent genetic cause for end-stage renal failure in children and young adults. The...
Mutations in DNAH5 cause primary ciliary dyskinesia and randomization of left–right asymmetry (2002)
Olbrich, Heike, Häffner, Karsten, Kispert, Andreas, Völkel, Alexander, Volz, Andreas, Sasmaz, Gürsel, ...
Primary ciliary dyskinesia (PCD, MIM 242650) is characterized by recurrent infections of the respiratory tract due to reduced mucociliary clearance and by sperm immobility. Half of the affected...
Walter, Lutz, Peter Hurt, Peter, Himmelbauer, Heinz, Sudbrak, Ralf, Günther, Eberhard
Abstract. A contig of overlapping bacterial and P1-derived artificial chromosome (BAC, PAC) clones derived from the inbred rat strain BN was constructed that encompasses the class II and the class...
Otto, Edgar, Hoefele, Julia, Ruf, Rainer, Mueller, Adelheid M., Hiller, Karl S., Wolf, Matthias T. F., ...
Nephronophthisis (NPHP) comprises a group of autosomal recessive cystic kidney diseases, which constitute the most frequent genetic cause for end-stage renal failure in children and young adults. The...
Schickel, Jörg, Stahn, Katharina, Zimmer, Klaus-Peter, Sudbrak, Ralf, Størm, Tim M., Dürst, Matthias, ...
Integrin-associated protein (IAP) is a widely expressed membrane protein with multiple functions in immunological and neuronal processes. Having physically mapped the IAP gene into a BAC/PAC contig...
Dobson-Stone, Carol, Fairclough, Rebecca, Dunne, Eimear, Brown, Joanna, Dissanayake, Manel, Munro, Colin S., ...
Hailey-Hailey disease is an autosomal dominant skin disorder characterized by suprabasal cell separation (acantholysis) of the epidermis. Mutations in ATP2C1, the gene encoding a novel, P-type...
Mutations in DNAH5 cause primary ciliary dyskinesia and randomization of left–right asymmetry (2002)
Olbrich, Heike, Häffner, Karsten, Kispert, Andreas, Völkel, Alexander, Volz, Andreas, Sasmaz, Gürsel, ...
Primary ciliary dyskinesia (PCD, MIM 242650) is characterized by recurrent infections of the respiratory tract due to reduced mucociliary clearance and by sperm immobility. Half of the affected...
Sudbrak, Ralf, Wieczorek, Georg, Nuber, Ulrike A., Mann, Wolfgang, Kirchner, Roland, Erdogan, Fikret, ...
Mutant alleles are frequently characterized by low expression levels. Therefore, cDNA array-based gene expression profiling may be a promising strategy for identifying gene defects underlying...
Hailey-Hailey disease is caused by mutations in ATP2C1 encoding a novel Ca2+ pump (2000)
Sudbrak, Ralf, Brown, Joanna, Dobson-Stone, Carol, Carter, Simon, Ramser, Juliane, White, Jacqueline, ...
Hailey–Hailey disease (HHD) is an autosomal dominant skin disorder characterized by suprabasal cell separation (acantholysis) of the epidermis. Previous genetic linkage studies localized the gene...
Molekulare Charakterisierung der Anlage zur Malignen Hyperthermie / (1996)
Münster (Westfalen), Univ., Diss., 1996 (Nicht für den Austausch).
The Genomic Sequence and Comparative Analysis of the Rat Major Histocompatibility Complex
Hurt, Peter, Walter, Lutz, Sudbrak, Ralf, Klages, Sven, Müller, Ines, Shiina, Takashi, ...
We have determined the sequence of a 4-Mb interval on rat chromosome 20p12 that encompasses the rat major histocompatibility complex (MHC). This is the first report of a finished sequence for a...
The Genomic Sequence and Comparative Analysis of the Rat Major Histocompatibility Complex
Hurt, Peter, Walter, Lutz, Sudbrak, Ralf, Klages, Sven, Müller, Ines, Shiina, Takashi, ...
We have determined the sequence of a 4-Mb interval on rat chromosome 20p12 that encompasses the rat major histocompatibility complex (MHC). This is the first report of a finished sequence for a...
Otto, Edgar, Hoefele, Julia, Ruf, Rainer, Mueller, Adelheid M., Hiller, Karl S., Wolf, Matthias T. F., ...
Nephronophthisis (NPHP) comprises a group of autosomal recessive cystic kidney diseases, which constitute the most frequent genetic cause for end-stage renal failure in children and young adults. The...
Mapping of a Further Malignant Hyperthermia Susceptibility Locus to Chromosome 3q13.1
Sudbrak, Ralf, Procaccio, Vincent, Klausnitzer, Monica, Curran, Julie L., Monsieurs, Koen, Van Broeckhoven, Christine, ...
Malignant hyperthermia (MH) is a potentially lethal pharmacogenetic disease for which MH susceptibility (MHS) is transmitted as an autosomal dominant trait. A potentially life-threatening MH crisis...
DNAH5 Mutations Are a Common Cause of Primary Ciliary Dyskinesia with Outer Dynein Arm Defects
Hornef, Nada, Olbrich, Heike, Horvath, Judit, Zariwala, Maimoona A., Fliegauf, Manfred, Loges, Niki Tomas, ...
Rationale: Primary ciliary dyskinesia (PCD) is characterized by recurrent airway infections and randomization of left–right body asymmetry. To date, autosomal recessive mutations have only been...