Autor: "Majewski, F." - OpacWWW

Skocz do pozycji: 1.

Tytuł:: Mutations in NSD1 are responsible for Sotos syndrome, but are not a frequent finding in other overgrowth phenotypes.
Autorzy:: Türkmen S; Institut für Medizinische Genetik, Humboldt-Universität, Charité, Berlin, Germany.
Gillessen-Kaesbach G
Meinecke P
Albrecht B
Neumann LM
Hesse V
Palanduz S
Balg S
Majewski F
Fuchs S
Zschieschang P
Greiwe M
Mennicke K
Kreuz FR
Dehmel HJ
Rodeck B
Kunze J
Tinschert S
Mundlos S
Horn D; Pokaż więcej
Źródło:: European journal of human genetics : EJHG [Eur J Hum Genet] 2003 Nov; Vol. 11 (11), pp. 858-65.
Typ publikacji:: Journal Article
MeSH Terms:: Intracellular Signaling Peptides and Proteins*
Mutation*
Carrier Proteins/*genetics
Craniofacial Abnormalities/*genetics
Developmental Disabilities/*genetics
Growth Disorders/*genetics
Intellectual Disability/*genetics
Nuclear Proteins/*genetics
Adult ; Child ; Child, Preschool ; Chromosome Deletion ; DNA Mutational Analysis ; Female ; Histone Methyltransferases ; Histone-Lysine N-Methyltransferase ; Humans ; Infant ; Infant, Newborn ; Male ; Pedigree ; Phenotype ; Polymorphism, Genetic ; Syndrome

Czasopismo naukowe

Skocz do pozycji: 2.

Tytuł:: Spectrum of mutations in PTPN11 and genotype-phenotype correlation in 96 patients with Noonan syndrome and five patients with cardio-facio-cutaneous syndrome.
Autorzy:: Musante L; Max-Planck-Institute for Molecular Genetics, Berlin, Germany.
Kehl HG
Majewski F
Meinecke P
Schweiger S
Gillessen-Kaesbach G
Wieczorek D
Hinkel GK
Tinschert S
Hoeltzenbein M
Ropers HH
Kalscheuer VM; Pokaż więcej
Źródło:: European journal of human genetics : EJHG [Eur J Hum Genet] 2003 Feb; Vol. 11 (2), pp. 201-6.
Typ publikacji:: Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:: Noonan Syndrome/*genetics
Protein Tyrosine Phosphatases/*genetics
DNA Mutational Analysis ; Female ; Genotype ; Humans ; Intracellular Signaling Peptides and Proteins ; Male ; Phenotype ; Protein Tyrosine Phosphatase, Non-Receptor Type 11 ; Sequence Analysis, DNA

Czasopismo naukowe

Skocz do pozycji: 3.

Tytuł:: Effect of the size of the deletion and clinical manifestation in Wolf-Hirschhorn syndrome: analysis of 13 patients with a de novo deletion.
Autorzy:: Wieczorek D; Institut für Humangenetik, Universitätsklinikum, Essen, Germany. />Krause M
Majewski F
Albrecht B
Horn D
Riess O
Gillessen-Kaesbach G; Pokaż więcej
Źródło:: European journal of human genetics : EJHG [Eur J Hum Genet] 2000 Jul; Vol. 8 (7), pp. 519-26.
Typ publikacji:: Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:: Chromosome Deletion*
Abnormalities, Multiple/*genetics
Chromosomes, Human, Pair 4/*genetics
Face/*abnormalities
Intellectual Disability/*genetics
Microcephaly/*genetics
Abnormalities, Multiple/pathology ; Adolescent ; Body Weight/genetics ; Child ; Child, Preschool ; Chromosome Mapping ; Coloboma/genetics ; DNA/analysis ; Female ; Genotype ; Heart Defects, Congenital/genetics ; Humans ; Infant ; Iris/abnormalities ; Male ; Phenotype ; Syndrome

Czasopismo naukowe

Skocz do pozycji: 4.

Tytuł:: FISH studies in 45 patients with Rubinstein-Taybi syndrome: deletions associated with polysplenia, hypoplastic left heart and death in infancy.
Autorzy:: Bartsch O; Institute of Clinical Genetics, Technical University, Dresden, Germany. />Wagner A
Hinkel GK
Krebs P
Stumm M
Schmalenberger B
Böhm S
Balci S
Majewski F; Pokaż więcej
Źródło:: European journal of human genetics : EJHG [Eur J Hum Genet] 1999 Oct-Nov; Vol. 7 (7), pp. 748-56.
Typ publikacji:: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:: Gene Deletion*
In Situ Hybridization, Fluorescence*
Hypoplastic Left Heart Syndrome/*genetics
Nuclear Proteins/*genetics
Rubinstein-Taybi Syndrome/*genetics
Spleen/*abnormalities
Trans-Activators/*genetics
Adolescent ; Adult ; CREB-Binding Protein ; Child ; Child, Preschool ; Chromosomes, Human, Pair 16/genetics ; Female ; Humans ; Infant ; Infant, Newborn ; Male ; Rubinstein-Taybi Syndrome/mortality ; Rubinstein-Taybi Syndrome/pathology

Czasopismo naukowe

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