المؤلفون: Arens YH; Research Institute Growth and Development, University of Maastricht, Maastricht, 62 MD Maastricht, The Netherlands. vvone.arens@qen.unimaas.nl, Engelen JJ, Govaerts LC, van Ravenswaay CM, Loneus WH, van Lent-Albrechts JC, van der Blij-Philipsen M, Hamers AJ, Schrander-Stumpel CT

المصدر: American journal of medical genetics. Part A [Am J Med Genet A] 2004 Oct 01; Vol. 130A (2), pp. 128-33.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print Cited Medium: Print ISSN: 1552-4825 (Print) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE

مواضيع طبية MeSH: Chromosome Deletion* , Translocation, Genetic*, Chromosomes, Human, Pair 3/*genetics , Chromosomes, Human, Pair 5/*genetics, Chromosome Aberrations ; Chromosome Banding ; Family Health ; Female ; Gene Duplication ; Heterozygote ; Humans ; In Situ Hybridization, Fluorescence ; Karyotyping ; Male ; Pedigree

المؤلفون: Engelen JJ; Research Institute Growth and Development, Department of Clinical Genetics, University Maastricht, The Netherlands. john.engelen@gen.unimaas.nl, Moog U, Weber J, Haagen AA, van Uum CM, Hamers AJ

المصدر: American journal of medical genetics. Part A [Am J Med Genet A] 2003 Jun 15; Vol. 119A (3), pp. 356-9.

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print Cited Medium: Print ISSN: 1552-4825 (Print) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE

مواضيع طبية MeSH: Chromosome Deletion*, Chromosomes, Human, Pair 18/*genetics , Developmental Disabilities/*genetics , Psychomotor Disorders/*genetics, Chromosome Banding ; Humans ; In Situ Hybridization, Fluorescence ; Infant ; Karyotyping ; Male ; Metaphase ; Phenotype

المؤلفون: Engelen JJ; Research Institute Growth and Development, Department of Clinical Genetics, University Maastricht, The Netherlands. john.engelen@gen.unimaas.nl, Schrander-Stumpel CT, Theunissen PM, Vaes-Peeters G, Albrechts JC, Hamers AJ

المصدر: American journal of medical genetics. Part A [Am J Med Genet A] 2003 Apr 30; Vol. 118A (3), pp. 274-8.

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print Cited Medium: Print ISSN: 1552-4825 (Print) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE

مواضيع طبية MeSH: Chromosomes, Human, Pair 8* , Genetic Markers*, Growth Disorders/*genetics, Child ; Chromosome Aberrations ; Chromosome Banding ; Developmental Disabilities/genetics ; Humans ; In Situ Hybridization, Fluorescence ; Male

المؤلفون: Engelen JJ; Research Institute Growth and Development, Department of Clinical Genetics, University Maastricht, The Netherlands. john.engelen@gen.unimaas.nl, Arens YH, Gondrie ET, Alofs MG, Loneus WH, Hamers AJ

المصدر: American journal of medical genetics. Part A [Am J Med Genet A] 2003 Apr 30; Vol. 118A (3), pp. 287-9.

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print Cited Medium: Print ISSN: 1552-4825 (Print) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE

مواضيع طبية MeSH: Chromosomes, Human, Y* , Translocation, Genetic*, Abortion, Habitual ; Adult ; Chromosome Aberrations ; Chromosome Banding ; Female ; Gene Duplication ; Humans ; In Situ Hybridization, Fluorescence ; Karyotyping ; Male ; Phenotype ; Pregnancy

المؤلفون: Engelen JJ; Research Institute Growth and Development, Department of Clinical Genetics, University Maastricht, The Netherlands. john.engelen@gen.unimaas.nl, de Die-Smulders CE, Dirckx R, Verhoeven WM, Tuinier S, Curfs LM, Hamers AJ

المصدر: American journal of medical genetics [Am J Med Genet] 2002 Apr 22; Vol. 109 (2), pp. 149-53.

نوع المنشور: Case Reports; Journal Article; Review

بيانات الدورية: Publisher: Wiley-Liss Country of Publication: United States NLM ID: 7708900 Publication Model: Print Cited Medium: Print ISSN: 0148-7299 (Print) Linking ISSN: 01487299 NLM ISO Abbreviation: Am J Med Genet Subsets: MEDLINE

مواضيع طبية MeSH: Chromosome Aberrations*, Chromosomes, Human, Pair 16/*genetics , Intellectual Disability/*pathology, Adult ; Child ; Family Health ; Female ; Gene Duplication ; Humans ; In Situ Hybridization, Fluorescence ; Intellectual Disability/genetics ; Karyotyping ; Trisomy

المؤلفون: Sanchez-Garcia JF; Research Institute Growth and Development, Department of Clinical Genetics, University of Maastricht, Maastrricht, The Netherlands., de Die-Smulders CE, Weber JW, Jetten AG, Loneus WH, Hamers AJ, Engelen JJ

المصدر: American journal of medical genetics [Am J Med Genet] 2001 Apr 15; Vol. 100 (1), pp. 56-61.

نوع المنشور: Case Reports; Journal Article; Research Support, Non-U.S. Gov't; Review

بيانات الدورية: Publisher: Wiley-Liss Country of Publication: United States NLM ID: 7708900 Publication Model: Print Cited Medium: Print ISSN: 0148-7299 (Print) Linking ISSN: 01487299 NLM ISO Abbreviation: Am J Med Genet Subsets: MEDLINE

مواضيع طبية MeSH: Chromosome Aberrations*, Chromosomes, Human, Pair 5/*genetics, Abnormalities, Multiple/genetics ; Abnormalities, Multiple/pathology ; Adolescent ; Child ; Child, Preschool ; Chromosome Banding ; Face/abnormalities ; Female ; Gene Duplication ; Growth Disorders ; Humans ; In Situ Hybridization, Fluorescence ; Infant ; Infant, Newborn ; Male ; Psychomotor Disorders

المؤلفون: Engelen JJ; Department of Molecular Cell Biology and Genetics, University of Maastricht, PO Box 616, 6200 MD Maastricht, The Netherlands. john.engelen@gen.unimaas.nl, Marcelis CL, Alofs MG, Loneus WH, Pulles-Heintzberger CF, Hamers AJ

المصدر: American journal of medical genetics [Am J Med Genet] 2001 Feb 15; Vol. 99 (1), pp. 48-53.

نوع المنشور: Case Reports; Journal Article; Review

بيانات الدورية: Publisher: Wiley-Liss Country of Publication: United States NLM ID: 7708900 Publication Model: Print Cited Medium: Print ISSN: 0148-7299 (Print) Linking ISSN: 01487299 NLM ISO Abbreviation: Am J Med Genet Subsets: MEDLINE

مواضيع طبية MeSH: Chromosome Aberrations* , Trisomy*, Chromosomes, Human, Pair 15/*genetics , Chromosomes, Human, Pair 6/*genetics, Abnormalities, Multiple/genetics ; Abnormalities, Multiple/pathology ; Adolescent ; Adult ; Child ; Child, Preschool ; Chromosome Banding ; Face/abnormalities ; Female ; Fetus ; Growth Disorders/pathology ; Heart Defects, Congenital/pathology ; Humans ; Hydronephrosis/pathology ; In Situ Hybridization, Fluorescence ; Infant ; Infant, Newborn ; Male

المؤلفون: Moog U; Department of Clinical Genetics, and Maastricht University, The Netherlands. ute.moog@gen.unimass.nl, De Die-Smulders CE, Schrander-Stumpel CT, Engelen JJ, Hamers AJ, Frints S, Fryns JP

المصدر: Genetic counseling (Geneva, Switzerland) [Genet Couns] 2001; Vol. 12 (3), pp. 287-98.

نوع المنشور: Case Reports; Comparative Study; Journal Article

بيانات الدورية: Publisher: Edition Medecine Et Hygiene Country of Publication: Switzerland NLM ID: 9015261 Publication Model: Print Cited Medium: Print ISSN: 1015-8146 (Print) Linking ISSN: 10158146 NLM ISO Abbreviation: Genet Couns Subsets: MEDLINE

مواضيع طبية MeSH: Holoprosencephaly/*etiology, Brain/pathology ; Child, Preschool ; Facies ; Female ; Gene Deletion ; Holoprosencephaly/diagnostic imaging ; Holoprosencephaly/genetics ; Holoprosencephaly/pathology ; Humans ; Infant, Newborn ; Karyotyping ; Male ; Middle Aged ; Mutation ; Netherlands ; Pregnancy ; Trisomy ; Ultrasonography, Prenatal

المؤلفون: Engelen JJ; Department of Molecular Cell Biology and Genetics, University Maastricht, The Netherlands. john.engelen@gen.unimaas.nl, Marcelis C, Herbergs J, Weber J, Alofs M, Albrechts JC, Hamers AJ

المصدر: American journal of medical genetics [Am J Med Genet] 2000 Jun 19; Vol. 92 (5), pp. 318-21.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Wiley-Liss Country of Publication: United States NLM ID: 7708900 Publication Model: Print Cited Medium: Print ISSN: 0148-7299 (Print) Linking ISSN: 01487299 NLM ISO Abbreviation: Am J Med Genet Subsets: MEDLINE

مواضيع طبية MeSH: Chromosomes, Human, Pair 14* , Chromosomes, Human, Pair 2* , Motor Activity* , Telomere*, Developmental Disabilities/*genetics, Child ; Female ; Humans ; In Situ Hybridization, Fluorescence ; Karyotyping

المؤلفون: Engelen JJ; Department of Molecular Cell Biology and Genetics, University Maastricht, The Netherlands. john.engelen@gen.unimaas.nl, Moog U, Evers JL, Dassen H, Albrechts JC, Hamers AJ

المصدر: American journal of medical genetics [Am J Med Genet] 2000 Mar 06; Vol. 91 (1), pp. 18-21.

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: Wiley-Liss Country of Publication: United States NLM ID: 7708900 Publication Model: Print Cited Medium: Print ISSN: 0148-7299 (Print) Linking ISSN: 01487299 NLM ISO Abbreviation: Am J Med Genet Subsets: MEDLINE

مواضيع طبية MeSH: Chromosome Aberrations*, Chromosomes, Human, Pair 8/*genetics, Adult ; Chromosome Banding ; Family Health ; Female ; Gene Duplication ; Genetic Variation ; Humans ; In Situ Hybridization, Fluorescence ; Karyotyping ; Male ; Middle Aged ; Oligospermia