المؤلفون: Bedoyan JK; Department of Pediatrics, University of Michigan Medical School, Ann Arbor, MI 48109-5718, USA. sarahbed@umich.edu, Friez MJ, DuPont B, Ahmad A

المصدر: European journal of medical genetics [Eur J Med Genet] 2009 Jul-Aug; Vol. 52 (4), pp. 262-4. Date of Electronic Publication: 2008 Dec 16.

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: Elsevier Country of Publication: Netherlands NLM ID: 101247089 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1878-0849 (Electronic) Linking ISSN: 17697212 NLM ISO Abbreviation: Eur J Med Genet Subsets: MEDLINE

مواضيع طبية MeSH: Sequence Deletion*, Abnormalities, Multiple/*genetics , Face/*abnormalities , Guanine Nucleotide Exchange Factors/*genetics, Amino Acid Sequence ; Base Sequence ; Chromosomes, Human, X ; DNA/genetics ; Exons ; Genetic Diseases, X-Linked ; Guanine Nucleotide Exchange Factors/chemistry ; Humans ; Infant ; Male ; Molecular Sequence Data ; Mutation ; Oligonucleotide Array Sequence Analysis ; Protein Structure, Tertiary ; Sequence Analysis, DNA ; Sequence Homology, Amino Acid ; Syndrome

المؤلفون: Lyons MJ; Greenwood Genetic Center - Charleston Office, 3520 W. Montague Ave, Ste 104, North Charleston, SC 29418, USA. mlyons@ggc.org, Graham JM Jr, Neri G, Hunter AG, Clark RD, Rogers RC, Moscarda M, Boccuto L, Simensen R, Dodd J, Robertson S, DuPont BR, Friez MJ, Schwartz CE, Stevenson RE

المصدر: Journal of medical genetics [J Med Genet] 2009 Jan; Vol. 46 (1), pp. 9-13. Date of Electronic Publication: 2008 Sep 19.

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

بيانات الدورية: Publisher: British Medical Association Country of Publication: England NLM ID: 2985087R Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1468-6244 (Electronic) Linking ISSN: 00222593 NLM ISO Abbreviation: J Med Genet Subsets: MEDLINE

مواضيع طبية MeSH: Abnormalities, Multiple/*diagnosis , Abnormalities, Multiple/*genetics , Mental Retardation, X-Linked/*diagnosis , Mental Retardation, X-Linked/*genetics, Abnormalities, Multiple/pathology ; Adolescent ; Amino Acid Substitution ; Child ; Child, Preschool ; Female ; Humans ; Male ; Mediator Complex ; Mental Retardation, X-Linked/pathology ; Muscle Hypotonia/diagnosis ; Muscle Hypotonia/genetics ; Muscle Hypotonia/pathology ; Mutation ; Phenotype ; Receptors, Thyroid Hormone/genetics ; Syndrome

المؤلفون: Graham JM Jr; Medical Genetics Institute, Cedars-Sinai Medical Center, David Geffen School of Medicine at UCLA, Los Angeles, California 90048, USA., Visootsak J, Dykens E, Huddleston L, Clark RD, Jones KL, Moeschler JB, Opitz JM, Morford J, Simensen R, Rogers RC, Schwartz CE, Friez MJ, Stevenson RE

المصدر: American journal of medical genetics. Part A [Am J Med Genet A] 2008 Dec 01; Vol. 146A (23), pp. 3011-7.

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

بيانات الدورية: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE

مواضيع طبية MeSH: Abnormalities, Multiple/*psychology , Child Behavior Disorders/*diagnosis , Mental Retardation, X-Linked/*psychology , Receptors, Thyroid Hormone/*genetics , Social Behavior Disorders/*diagnosis, Abnormalities, Multiple/genetics ; Adolescent ; Adult ; Amino Acid Substitution ; Arginine/genetics ; Arginine/metabolism ; Child ; Child Behavior Disorders/etiology ; Child Behavior Disorders/genetics ; Communication ; Humans ; Male ; Mediator Complex ; Mental Retardation, X-Linked/complications ; Mental Retardation, X-Linked/genetics ; Social Behavior Disorders/etiology ; Social Behavior Disorders/genetics ; Socialization ; Syndrome ; Tryptophan/genetics ; Tryptophan/metabolism ; Young Adult

المؤلفون: Jones JR; Greenwood Genetic Center, Greenwood, South Carolina, USA., Skinner C, Friez MJ, Schwartz CE, Stevenson RE

المصدر: American journal of medical genetics. Part A [Am J Med Genet A] 2008 Sep 01; Vol. 146A (17), pp. 2213-20.

نوع المنشور: Journal Article; Review

بيانات الدورية: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE

مواضيع طبية MeSH: DNA Methylation* , Genetic Predisposition to Disease*, Autistic Disorder/*genetics , Chromosomes, Human, X/*metabolism, Autistic Disorder/metabolism ; Brain/metabolism ; Epigenesis, Genetic ; Gene Expression Regulation ; Humans ; Male

المؤلفون: Ding N; Department of Molecular Medicine, University of Texas Health Science Center at San Antonio, San Antonio, TX 78245, USA., Zhou H, Esteve PO, Chin HG, Kim S, Xu X, Joseph SM, Friez MJ, Schwartz CE, Pradhan S, Boyer TG

المصدر: Molecular cell [Mol Cell] 2008 Aug 08; Vol. 31 (3), pp. 347-59.

نوع المنشور: Journal Article; Research Support, N.I.H., Extramural; Research Support, U.S. Gov't, Non-P.H.S.

بيانات الدورية: Publisher: Cell Press Country of Publication: United States NLM ID: 9802571 Publication Model: Print Cited Medium: Internet ISSN: 1097-4164 (Electronic) Linking ISSN: 10972765 NLM ISO Abbreviation: Mol Cell Subsets: MEDLINE

مواضيع طبية MeSH: Gene Silencing*, Mental Retardation, X-Linked/*genetics , Neurons/*metabolism , Neurons/*pathology , Receptors, Thyroid Hormone/*metabolism, HeLa Cells ; Histocompatibility Antigens/metabolism ; Histone-Lysine N-Methyltransferase/metabolism ; Humans ; Mediator Complex ; Mutation, Missense/genetics ; Protein Binding ; Protein Structure, Tertiary ; Protein Transport ; Repressor Proteins/chemistry ; Repressor Proteins/metabolism ; Silencer Elements, Transcriptional/genetics

المؤلفون: Dasouki M; University of Kansas, School of Medicine, Department of Pediatrics, 3901 Rainbow Blvd., Mail stop 4004, 66160, Kansas City, KS, USA. mdasouki@kumc.edu, Friez MJ

المصدر: Human genetics [Hum Genet] 2008 Jun; Vol. 123 (5), pp. 549.

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: Springer Verlag Country of Publication: Germany NLM ID: 7613873 Publication Model: Print Cited Medium: Internet ISSN: 1432-1203 (Electronic) Linking ISSN: 03406717 NLM ISO Abbreviation: Hum Genet Subsets: MEDLINE

مواضيع طبية MeSH: Codon, Nonsense/*genetics , Homeodomain Proteins/*genetics , Intellectual Disability/*genetics , Mutation, Missense/*genetics , Transcription Factors/*genetics, Child ; Humans ; Intellectual Disability/diagnosis ; Intellectual Disability/therapy ; Male ; Molecular Sequence Data

المؤلفون: Bauters M; Human Genome Laboratory, Department for Molecular and Developmental Genetics, VIB, B-3000 Leuven, Belgium., Van Esch H, Friez MJ, Boespflug-Tanguy O, Zenker M, Vianna-Morgante AM, Rosenberg C, Ignatius J, Raynaud M, Hollanders K, Govaerts K, Vandenreijt K, Niel F, Blanc P, Stevenson RE, Fryns JP, Marynen P, Schwartz CE, Froyen G

المصدر: Genome research [Genome Res] 2008 Jun; Vol. 18 (6), pp. 847-58. Date of Electronic Publication: 2008 Apr 02.

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

بيانات الدورية: Publisher: Cold Spring Harbor Laboratory Press Country of Publication: United States NLM ID: 9518021 Publication Model: Print-Electronic Cited Medium: Print ISSN: 1088-9051 (Print) Linking ISSN: 10889051 NLM ISO Abbreviation: Genome Res Subsets: MEDLINE

مواضيع طبية MeSH: Chromosome Breakage* , DNA Repair* , Gene Duplication*, Mental Retardation, X-Linked/*genetics , Methyl-CpG-Binding Protein 2/*genetics, Base Sequence ; Chromosome Mapping ; Chromosomes, Human, X ; Computational Biology ; DNA Replication ; Genome, Human ; Humans ; Male ; Models, Genetic ; Molecular Sequence Data ; Recombination, Genetic ; Sequence Analysis, DNA

المؤلفون: Friez MJ, Wilson JA

المصدر: European journal of human genetics : EJHG [Eur J Hum Genet] 2008 Mar; Vol. 16 (3), pp. 277-8. Date of Electronic Publication: 2007 Sep 26.

نوع المنشور: Comment; Letter

بيانات الدورية: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited Medium: Print ISSN: 1018-4813 (Print) Linking ISSN: 10184813 NLM ISO Abbreviation: Eur J Hum Genet Subsets: MEDLINE

مواضيع طبية MeSH: Exons* , Mutation*, Achondroplasia/*genetics , Genetic Testing/*methods , Receptor, Fibroblast Growth Factor, Type 3/*genetics, Achondroplasia/diagnosis ; Female ; Humans ; Infant, Newborn ; Male

المؤلفون: Schwartz CE, Tarpey PS, Lubs HA, Verloes A, May MM, Risheg H, Friez MJ, Futreal PA, Edkins S, Teague J, Briault S, Skinner C, Bauer-Carlin A, Simensen RJ, Joseph SM, Jones JR, Gecz J, Stratton MR, Raymond FL, Stevenson RE

المصدر: Journal of medical genetics [J Med Genet] 2007 Jul; Vol. 44 (7), pp. 472-7. Date of Electronic Publication: 2007 Mar 16.

نوع المنشور: Comparative Study; Letter; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: British Medical Association Country of Publication: England NLM ID: 2985087R Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1468-6244 (Electronic) Linking ISSN: 00222593 NLM ISO Abbreviation: J Med Genet Subsets: MEDLINE

مواضيع طبية MeSH: Phenotype*, Abnormalities, Multiple/*genetics , Mental Retardation, X-Linked/*genetics , Mutation, Missense/*genetics , Receptors, Thyroid Hormone/*genetics, Abnormalities, Multiple/pathology ; Humans ; Male ; Mediator Complex ; Mental Retardation, X-Linked/pathology ; Pedigree

المؤلفون: Risheg H; Greenwood Genetic Center, Greenwood, South Carolina 29646, USA., Graham JM Jr, Clark RD, Rogers RC, Opitz JM, Moeschler JB, Peiffer AP, May M, Joseph SM, Jones JR, Stevenson RE, Schwartz CE, Friez MJ

المصدر: Nature genetics [Nat Genet] 2007 Apr; Vol. 39 (4), pp. 451-3. Date of Electronic Publication: 2007 Mar 04.

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

بيانات الدورية: Publisher: Nature Pub. Co Country of Publication: United States NLM ID: 9216904 Publication Model: Print-Electronic Cited Medium: Print ISSN: 1061-4036 (Print) Linking ISSN: 10614036 NLM ISO Abbreviation: Nat Genet Subsets: MEDLINE

مواضيع طبية MeSH: Mutation*, Genetic Diseases, X-Linked/*genetics , Receptors, Thyroid Hormone/*genetics, Amino Acid Substitution/genetics ; Arginine/genetics ; Family ; Female ; Humans ; Intellectual Disability/genetics ; Male ; Mediator Complex ; Muscle Hypotonia/genetics ; Pedigree ; Syndrome ; Tryptophan/genetics