A further patient with Pai syndrome with autosomal dominant inheritance?

Por Rudnik-Schöneborn, S, Zerres, K
Publicado em 1994

Autosomal dominant polycystic kidney disease in children.

Por Zerres, K, Propping, P
Publicado em 1987

Childhood onset autosomal dominant polycystic kidney disease in sibs: clinical picture and recurrence risk. German Working Group on Paediatric Nephrology (Arbeitsgemeinschaft für P...

Por Zerres, K, Rudnik-Schöneborn, S, Deget, F
Publicado em 1993

Evidence of autosomal dominant mutations in childhood-onset proximal spinal muscular atrophy.

Por Rudnik-Schöneborn, S., Wirth, B., Zerres, K.
Publicado em 1994

Refining the map and defining flanking markers of the gene for autosomal recessive polycystic kidney disease on chromosome 6p21.1-p12.

Por Mücher, G., Wirth, B., Zerres, K.
Publicado em 1994

Postnatal short stature, microcephaly, severe syndactyly of hands and feet, dysmorphic face, and mental retardation: a new syndrome?

Por Zerres, K, Rietschel, M, Rietschel, E, Majewski, F, Meinecke, P
Publicado em 1992

Uniparental isodisomy for paternal 2p and maternal 2q in a phenotypically normal female with two isochromosomes, i(2p) and i(2q)

Por ALBRECHT, B., MERGENTHALER, S., EGGERMANN, K., ZERRES, K., PASSARGE, E., EGGERMANN, T.
Publicado em 2001

Severe persistent nasolacrimal duct obstruction: a typical finding in ADULT syndrome

Por Eter, N, Zerres, K, Propping, P, Roggenkämper, P, Spitznas, M
Publicado em 2006

Hybrid survival motor neuron genes in patients with autosomal recessive spinal muscular atrophy: new insights into molecular mechanisms responsible for the disease.

Por Hahnen, E., Schönling, J., Rudnik-Schöneborn, S., Zerres, K., Wirth, B.
Publicado em 1996

Familial schizencephaly: further delineation of a rare disorder.

Por Haverkamp, F, Zerres, K, Ostertun, B, Emons, D, Lentze, M J
Publicado em 1995

Proximal and distal spinal muscular atrophy in one family: molecular genetic studies provide further evidence for the non-allelic origin of both diseases.

Por Spranger, S, Rudnik-Schöneborn, S, Spranger, M, Schächtele, M, Zerres, K, Wirth, B
Publicado em 1997

Allelic variants in the 5` non-coding region of the connexin32 gene: possible pitfalls in the diagnosis of X linked Charcot-Marie-Tooth neuropathy (CMTX)

Por Bergmann, C, Zerres, K, Rudnik-Schoneborn, S, Eggermann, T, Schroder, J, Senderek, J
Publicado em 2002

Haploinsufficiency of ANKRD11 (16q24.3) Is Not Obligatorily Associated with Cognitive Impairment but Shows a Clinical Overlap with Silver-Russell Syndrome

Por Spengler, S., Oehl-Jaschkowitz, B., Begemann, M., Hennes, P., Zerres, K., Eggermann, T.
Publicado em 2013

Two Adult Patients with Ellis-van Creveld Syndrome Extending the Clinical Spectrum

Por Rudnik-Schöneborn, S., Zerres, K., Graul-Neumann, L., Wiegand, S., Mellerowicz, H., Hehr, U.
Publicado em 2011

Multi-exon deletions of the PKHD1 gene cause autosomal recessive polycystic kidney disease (ARPKD)

Por Bergmann, C, Kupper, F, Schmitt, C, Vester, U, Neuhaus, T, Senderek, J, Zerres, K
Publicado em 2005

Apparent autosomal recessive inheritance in families with proximal spinal muscular atrophy affecting individuals in two generations.

Por Rudnik-Schöneborn, S., Zerres, K., Hahnen, E., Meng, G., Voit, T., Hanefeld, F., Wirth, B.
Publicado em 1996

Quantitative analysis of survival motor neuron copies: identification of subtle SMN1 mutations in patients with spinal muscular atrophy, genotype-phenotype correlation, and implica...

Por Wirth, B, Herz, M, Wetter, A, Moskau, S, Hahnen, E, Rudnik-Schöneborn, S, Wienker, T, Zerres, K
Publicado em 1999

Direct and indirect estimation of the sex ratio of mutation frequencies in hemophilia A.

Por Oldenburg, J, Schwaab, R, Grimm, T, Zerres, K, Hakenberg, P, Brackmann, H H, Olek, K
Publicado em 1993

De novo rearrangements found in 2% of index patients with spinal muscular atrophy: mutational mechanisms, parental origin, mutation rate, and implications for genetic counseling.

Por Wirth, B, Schmidt, T, Hahnen, E, Rudnik-Schöneborn, S, Krawczak, M, Müller-Myhsok, B, Schönling, J, Zerres, K
Publicado em 1997

Features of mtDNA mutation patterns in European pedigrees and sporadic cases with Leber hereditary optic neuropathy.

Por Obermaier-Kusser, B., Lorenz, B., Schubring, S., Paprotta, A., Zerres, K., Meitinger, T., Meire, F., Cochaux, P., Blankenagel, A., Kommerell, G.
Publicado em 1994