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Relaxin signalling links tyrosine phosphorylation to phosphodiesterase andadenylyl cyclase activity
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Bioactivity of recombinant prorelaxin from the marmoset monkey
REGULATORY PEPTIDES
Girl with phenotypic abnormalities and a de novo, apparently balanced translocation 46,XX,t(5;10)(q35.2q11.2)
AMERICAN JOURNAL OF MEDICAL GENETICS
Burning down DEFECT11
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Penoscrotal inversion, hypospadias, imperforate anus, facial anomalies, and developmental delay: definition of a new clinical syndrome
PEDIATRIC SURGERY INTERNATIONAL
Boy with celiac disease, malformations, and ring chromosome 13 with deletion 13q32 -> qter
AMERICAN JOURNAL OF MEDICAL GENETICS
FISH studies in 45 patients with Rubinstein-Taybi syndrome: deletions associated with polysplenia, hypoplastic left heart and death in infancy
EUROPEAN JOURNAL OF HUMAN GENETICS
The novel contiguous gene syndrome of myotubular myopathy (MTM1), male hypogenitalism and deletion in Xq28: report of the first familial case
CYTOGENETICS AND CELL GENETICS
Mulibrey nanism and Wilms tumor
AMERICAN JOURNAL OF MEDICAL GENETICS
No evidence for chromosomal microdeletions at the second DiGeorge syndromelocus on 10p near D10S585
AMERICAN JOURNAL OF MEDICAL GENETICS
Severe complications and gastric carcinoma in Mulvihill-Smith syndrome
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Identification of cyclin A/Cdk2 phosphorylation sites in B-Myb
EUROPEAN JOURNAL OF BIOCHEMISTRY
LOW INCIDENCE OF MICRODELETIONS AT THE 2ND DIGEORGE-SYNDROME LOCUS (10P13-14)
European journal of human genetics
PRENATAL-DIAGNOSIS OF A FETUS WITH THE RARE SYNDROME OF PARTIAL TRISOMY OF 11Q
European journal of human genetics
DELETION MAPPING BY FISH WITH BACS IN PATIENTS WITH PARTIAL MONOSOMY 22Q13
Human genetics
Familial Williams-Beuren syndrome
AMERICAN JOURNAL OF MEDICAL GENETICS
A supernumerary marker chromosome vertical bar dic(22)(q11)vertical bar ina family with hypoparathyroidism, sensorineural deafness and renal dysplasiav
MONATSSCHRIFT KINDERHEILKUNDE
PHOSPHORYLATION AND ACTIVATION OF B-MYB BY CYCLIN-A-CDK2
Current biology
A LARGE FAMILY WITH SUBTELOMERIC TRANSLOCATION T(18-21)(Q23-Q22.1) AND MOLECULAR BREAKPOINT IN THE DOWN-SYNDROME CRITICAL REGION
Human genetics
CUSTOMIZED PROBES FOR FLUORESCENCE IN-SITU HYBRIDIZATION (FISH) - A UNIVERSAL AND FAST METHOD FOR PROBE SYNTHESIS FROM YACS, BACS, AND COSMIDS WITHOUT THE HANDLING OF MICROORGANISMS
Cytogenetics and cell genetics
A SMALL DELETION OF 16Q23.1-]16Q24.2 [DEL(16)(Q23.1Q24.2).ISH DEL(16)(Q23.1Q24.2)(D16S395-, P5432+)] IN A BOY WITH IRIS COLOBOMA AND MINOR ANOMALIES(, D16S348)
American journal of medical genetics
RETINOBLASTOMA PLUS SYNDROME - CHROMOSOMAL MICRODELETION 13Q14 BY FISH IN A BOY HAVING PRENATAL OVERGROWTH AND MILD WIEDEMANN-BECKWITH-SYNDROME-LIKE FEATURES, DEVELOPMENTAL DELAY, AND TRILATERAL RETINOBLASTOMA
American journal of human genetics
DERIVATIVE (6)T(1-6)(Q22-P21) REVEALED IN BONE-MARROW CELLS BY FISH 9MONTHS BEFORE DIAGNOSIS OF ACUTE T-LYMPHOBLASTIC LEUKEMIA
Cancer genetics and cytogenetics
DELINEATION OF A CONTIGUOUS GENE SYNDROME WITH MULTIPLE EXOSTOSES, ENLARGED PARIETAL FORAMINA, CRANIOFACIAL DYSOSTOSIS, AND MENTAL-RETARDATION, CAUSED BY DELETIONS ON THE SHORT ARM OF CHROMOSOME-11
American journal of human genetics
DNA, FISH AND COMPLEMENTATION STUDIES IN ICF SYNDROME - DNA HYPOMETHYLATION OF REPETITIVE AND SINGLE-COPY LOCI AND EVIDENCE FOR A TRANS-ACTING FACTOR
Human genetics
A GERMAN FAMILY WITH 3 MEMBERS WITH A PARTIAL TRISOMY-21 AND A PARTIAL MONOSOMY 18 IN 2 GENERATIONS
Cytogenetics and cell genetics
MOLECULAR DELINEATION OF A NEW CONTIGUOUS GENE SYNDROME WITH MULTIPLEEXOSTOSES ASSOCIATED WITH DELETIONS ON THE SHORT ARM OF CHROMOSOME-11
American journal of human genetics
CLINICAL DESCRIPTION OF A NEW CONTIGUOUS GENE SYNDROME OF CHROMOSOME 11P WITH MULTIPLE EXOSTOSES, ENLARGED PARIETAL FORAMINA, MICROPENIS, AND MENTAL-RETARDATION
American journal of human genetics
MULVIHILL-SMITH SYNDROME - CASE-REPORT AND REVIEW
Journal of Medical Genetics
COMPENSATORY UNIPARENTAL DISOMY OF CHROMOSOME-21 IN 2 CASES
Journal of Medical Genetics
CYTOGENETIC, FISH AND DNA STUDIES IN 11 INDIVIDUALS FROM A FAMILY WITH 2 SIBLINGS WITH DUP(21Q) DOWN-SYNDROME
Human genetics
PARTIAL TRISOMY OF 3Q DETECTED BY CHROMOSOME PAINTING IN A CASE OF JUVENILE CHRONIC MYELOMONOCYTIC LEUKEMIA
Cancer genetics and cytogenetics
CELLULAR-CHANGES IN HELA-CELLS AND CERVIX CELLS AFTER TREATMENT WITH CYCLIC-NUCLEOTIDES
Oncology
PROGEROID SYNDROME WITH SHORT STATURE AND PIGMENTED NEVI
American journal of human genetics