المؤلفون: Zanoni, Paolo, Steindl, Katharina, Sengupta, Deepanwita, Joset, Pascal, Bahr, Angela, Sticht, Heinrich, Lang-Muritano, Mariarosaria, van Ravenswaaij-Arts, Conny M. A., Shinawi, Marwan, Andrews, Marisa, Attie-Bitach, Tania, Maystadt, Isabelle, Belnap, Newell, Benoit, Valerie, Delplancq, Geoffroy, de Vries, Bert B. A., Grotto, Sarah, Lacombe, Didier, Larson, Austin, Mourmans, Jeroen, Ounap, Katrin, Petrilli, Giulia, Pfundt, Rolph, Ramsey, Keri, Blok, Lot Snijders, Tsatsaris, Vassilis, Vitobello, Antonio, Faivre, Laurence, Wheeler, Patricia G., Wevers, Marijke R., Wojcik, Monica, Zweier, Markus, Gozani, Or, Rauch, Anita

المصدر: Zanoni , P , Steindl , K , Sengupta , D , Joset , P , Bahr , A , Sticht , H , Lang-Muritano , M , van Ravenswaaij-Arts , C M A , Shinawi , M , Andrews , M , Attie-Bitach , T , Maystadt , I , Belnap , N , Benoit , V , Delplancq , G , de Vries , B B A , Grotto , S , Lacombe , D , Larson , A , Mourmans , J , Ounap , K , Petrilli , G , Pfundt , R , Ramsey ....

مصطلحات موضوعية: WOLF-HIRSCHHORN-SYNDROME, ROGERS-DANKS-SYNDROME, HISTONE H3, LYSINE 36, DELETION, REGION, DEFECTS

وصف الملف: application/pdf

الاتاحة: https://hdl.handle.net/11370/4f05c355-c1ff-4981-b207-eb98685b7658
https://research.rug.nl/en/publications/4f05c355-c1ff-4981-b207-eb98685b7658
https://doi.org/10.1038/s41436-021-01158-1
https://pure.rug.nl/ws/files/171110515/Loss_of_function_and_missense_variants_in_NSD2_cause_decreased_methylation_activity_and_are_associated_with_a_distinct_developmental_phenotype.pdf

المؤلفون: Mazzeu, Juliana F., Krepischi-Santos, Ana Cristina, Rosenberg, Carla, Lourenço, Charles M., Lezirovitz, Karina, Szuhai, Karoly, Martelli, Lúcia R., Vianna-Morgante, Angela M.

المصدر: Genetics and Molecular Biology. March 2007 30(2)

مصطلحات موضوعية: Pitt-Rogers-Danks syndrome, Robinow syndrome, translocation t(4;8), Wolf-Hirschhorn syndrome

وصف الملف: text/html

URL الوصول: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572007000300007

المؤلفون: Juliana F. Mazzeu, Ana Cristina Krepischi-Santos, Carla Rosenberg, Charles M. Lourenço, Karina Lezirovitz, Karoly Szuhai, Lúcia R. Martelli, Angela M. Vianna-Morgante

المصدر: Genetics and Molecular Biology, Vol 30, Iss 2, Pp 339-342 (2007)

مصطلحات موضوعية: Pitt-Rogers-Danks syndrome, Robinow syndrome, translocation t(4, 8), Wolf-Hirschhorn syndrome, Genetics, QH426-470

وصف الملف: electronic resource

Relation: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572007000300007; https://doaj.org/toc/1415-4757; https://doaj.org/toc/1678-4685

URL الوصول: https://doaj.org/article/3ea895b58729456c9d56df3febda9234

المؤلفون: Shadi Rezai, Sri Gottimukkala, Annika Chadee, Cassandra E. Henderson, Jaquelyn Wilansky, and Benamanhalli H. Rajegowda

مصطلحات موضوعية: Array comparative genomic hybridization, Chromosome Deletion, del (4p) syndrome, Dillan 4p Syndrome, Monosomy 4p, Pitt-Rogers-Danks syndrome, Pitt Syndrome, WHS Pathogenesis, Wolf-Hirschhorn syndrome critical region, Wolf-Hirschhorn syndrome, Wolf-Hirschhorn (4p-) syndrome

وصف الملف: application/pdf

Relation: http://medcraveonline.com/JPNC/JPNC-05-00170.php

الاتاحة: http://medcraveonline.com/JPNC/JPNC-05-00170.php

المؤلفون: Millichap, J Gordon

المصدر: Pediatric Neurology Briefs; Vol 15, No 04 | Apr 2001; 30-31 ; 2166-6482 ; 1043-3155 ; 10.15844/pedneurbriefs-15-4

مصطلحات موضوعية: Pitt-Rogers-Danks Syndrome, Wolf-Hirschorn Syndrome, Psychomotor Retardation

وصف الملف: application/xml; application/pdf

Relation: https://account.pediatricneurologybriefs.com/index.php/up-j-pnb/article/view/pedneurbriefs-15-4-7/3604; https://account.pediatricneurologybriefs.com/index.php/up-j-pnb/article/view/pedneurbriefs-15-4-7/3605; https://account.pediatricneurologybriefs.com/index.php/up-j-pnb/article/view/pedneurbriefs-15-4-7

الاتاحة: https://account.pediatricneurologybriefs.com/index.php/up-j-pnb/article/view/pedneurbriefs-15-4-7
https://doi.org/10.15844/pedneurbriefs-15-4-7

المؤلفون: Alina T. Midro, Joris Andrieux, Roel Hordijk, Joris Vermeesch, Klaas Kok, Koenraad Devriendt, B-M Anderlid, Bernard Thienpont, Jacqueline Schoumans, G Van Buggenhout, J-P Fryns, F. Hannes, Damien Sanlaville, N. M. C. Maas

المساهمون: Guided Treatment in Optimal Selected Cancer Patients (GUTS)

المصدر: JOURNAL OF MEDICAL GENETICS, 45(2), 71-80. BMJ PUBLISHING GROUP

مصطلحات موضوعية: Male, Chromosomes, Artificial, Bacterial, Microcephaly, Genotype, Biology, 4P DELETIONS, ROGERS-DANKS-SYNDROME, HISTORY, Genetics, medicine, Humans, Craniofacial, Child, Wolf–Hirschhorn syndrome, In Situ Hybridization, Fluorescence, Genetics (clinical), Chromosomes, Artificial, P1 Bacteriophage, Wolf-Hirschhorn Syndrome, MUTATIONS, Breakpoint, Nucleic Acid Hybridization, Chromosome Breakage, WHS CRITICAL REGION, IMBALANCE, medicine.disease, GENE, Phenotype, SYNDROME CRITICAL REGION, Chromosome 4, IDIOPATHIC MENTAL-RETARDATION, MAP, Female, Chromosome Deletion, Chromosomes, Human, Pair 4, Chromosome breakage

وصف الملف: Print-Electronic; application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::57096a484f2cc4e77eec64aee0a12cfa
https://doi.org/10.1136/jmg.2007.052910

المؤلفون: Martínez Quintana, Efrén, Rodríguez-González, F.

المساهمون: 23485891800, 24825586600

المصدر: Morphologie [ISSN 1286-0115], v. 98, p. 86-89

مصطلحات موضوعية: 32 Ciencias médicas, 320102 Genética clínica, Cardiac, Cardiaque, Genetic, Génétique, Pitt-Rogers-Danks syndrome, Rehabilitation, Rééducation, Syndrome de Pitt-Rogers-Danks, Syndrome de Wolf-Hirschhorn, Wolf-Hirschhorn syndrome

Relation: Morphologie; 98; http://hdl.handle.net/10553/43682; 84901623315; Sí

الاتاحة: http://hdl.handle.net/10553/43682
https://doi.org/10.1016/j.morpho.2014.02.002

المؤلفون: Oliver Quarrell, Michele Clemens, Michael R. Altherr, Tracy J. Wright

المصدر: American Journal of Medical Genetics. 75:345-350

مصطلحات موضوعية: Genetics, Diagnostico diferencial, medicine, PITT-ROGERS-DANKS SYNDROME, Biology, Congenital Malformation Syndrome, Allele, medicine.disease, Wolf–Hirschhorn syndrome, Genetics (clinical), Genetic determinism

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::2442a7009b9cf62888a34dca845db098
https://doi.org/10.1002/(sici)1096-8628(19980203)75:4<345::aid-ajmg2>3.0.co;2-p

المؤلفون: Zankl, A, Addor, MC, Maeder-Ingvar, M, Schorderet, DF

مصطلحات موضوعية: Eeg, epilepsy, Pitt-Rogers-Danks syndrome, seizures, Wolf-Hirschhorn syndrome, Rogers-Danks-Syndrome, Wolf-Hirschhorn-Syndrome, Angelman-Syndrome, Deletion

Relation: orcid:0000-0001-8612-1062

الاتاحة: https://espace.library.uq.edu.au/view/UQ:250667

المؤلفون: Urvashi Surti, Elizabeth McPherson, John T. Martsolf, Michele Clemens, Patricia Mowery-Rushton, John G. Rogers

المصدر: American Journal of Medical Genetics. 66:95-100

مصطلحات موضوعية: Genetics, Microcephaly, business.industry, Postnatal growth retardation, medicine.disease, Developmental disorder, Epilepsy, Facial appearance, medicine, PITT-ROGERS-DANKS SYNDROME, Palmar crease, business, Wolf–Hirschhorn syndrome, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::757689e54f06f98ab694b8df60fe7281
https://doi.org/10.1002/(sici)1096-8628(19961202)66:1<95::aid-ajmg26>3.0.co;2-k

المؤلفون: Giovanni Neri, Renato Bova, Marcella Zollino

المصدر: American Journal of Medical Genetics. 66:113-115

مصطلحات موضوعية: Male, Genetics, Physical development, Nosology, Pediatrics, medicine.medical_specialty, Point mutation, Infant, Syndrome, Biology, medicine.disease, Face, Putative gene, Genotype, medicine, Humans, Abnormalities, Multiple, PITT-ROGERS-DANKS SYNDROME, Chromosomes, Human, Pair 4, Haploinsufficiency, Wolf–Hirschhorn syndrome, Gene Deletion, In Situ Hybridization, Fluorescence, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::23acba6f55478594e1db3ef46d51d179
https://doi.org/10.1002/(sici)1096-8628(19961202)66:1<113::aid-ajmg29>3.0.co;2-u

المؤلفون: Dian Donnai

المصدر: American Journal of Medical Genetics. 66:101-103

مصطلحات موضوعية: Genetic inheritance, Philosophy, medicine, PITT-ROGERS-DANKS SYNDROME, medicine.disease, Wolf–Hirschhorn syndrome, Genetics (clinical), Genealogy

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::708248a9b5b3827d443407ea4bbabfbc
https://doi.org/10.1002/(sici)1096-8628(19961202)66:1<101::aid-ajmg27>3.0.co;2-v

المؤلفون: J Gordon Millichap

المصدر: Pediatric Neurology Briefs, Vol 15, Iss 4, Pp 30-31 (2001)

مصطلحات موضوعية: medicine.medical_specialty, psychomotor retardation, medicine.diagnostic_test, Psychomotor retardation, pitt-rogers-danks syndrome, wolf-hirschorn syndrome, lcsh:RJ1-570, lcsh:Pediatrics, Electroencephalography, medicine, Medical genetics, PITT-ROGERS-DANKS SYNDROME, medicine.symptom, Psychiatry, Psychology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6f65a8857abceab9ce8bd24723edd6a4
https://www.pediatricneurologybriefs.com/articles/1808

المؤلفون: Christine E. M. de Die-Smulders, John J.M. Engelen

المصدر: American Journal of Medical Genetics. 66:116-117

مصطلحات موضوعية: Genetics, Genetic inheritance, Gene duplication, PITT-ROGERS-DANKS SYNDROME, Biology, Long arm, Phenotype, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::5a45e6365c41c94e1a8b9362a16267e7
https://doi.org/10.1002/(sici)1096-8628(19961202)66:1<116::aid-ajmg30>3.0.co;2-t

المؤلفون: de Andrés-Cofiño R, Marti Herrero M, Toledo L, Orera Ma, Fernández Burriel M, Cabrera López Jc

المصدر: Revista de Neurología. 33:439

مصطلحات موضوعية: medicine.medical_specialty, Pediatrics, Microcephaly, business.industry, Medicine, PITT-ROGERS-DANKS SYNDROME, Peculiar facies, Neurology (clinical), General Medicine, business, medicine.disease, Psychiatry, Wolf–Hirschhorn syndrome

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::a9ac8c53d4c7df26b6ee4bd57a2db635
https://doi.org/10.33588/rn.3305.2001056

المؤلفون: John C. Carey, Agatino Battaglia

المصدر: American Journal of Medical Genetics. 75:541-541

مصطلحات موضوعية: Psychoanalysis, business.industry, medicine, PITT-ROGERS-DANKS SYNDROME, medicine.disease, business, Wolf–Hirschhorn syndrome, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::2af90c45f6e4da2a0224735d3893f0a9
https://doi.org/10.1002/(sici)1096-8628(19980217)75:5<541::aid-ajmg18>3.0.co;2-k

المؤلفون: John M. Opitz, James F. Reynolds, Dian Donnai

المصدر: American Journal of Medical Genetics. 24:29-32

مصطلحات موضوعية: Gynecology, medicine.medical_specialty, Growth retardation, business.industry, Multiple congenital anomaly, Short stature, Facial deformity, Endocrinology, Clinical report, Internal medicine, medicine, PITT-ROGERS-DANKS SYNDROME, medicine.symptom, Palmar crease, business, Genetics (clinical), Unusual face

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::68a2ee8615332282a110298897cf9ed4
https://doi.org/10.1002/ajmg.1320240105

المؤلفون: Charles Marques Lourenço, Carla Rosenberg, Karoly Szuhai, Juliana F. Mazzeu, Lúcia Regina Martelli, Ana Cristina Victorino Krepischi-Santos, Karina Lezirovitz, Angela Maria Vianna-Morgante

المصدر: Scopus-Elsevier
Genetics and Molecular Biology v.30 n.2 2007
Genetics and Molecular Biology
Sociedade Brasileira de Genética (SBG)
instacron:SBG
Genetics and Molecular Biology, Volume: 30, Issue: 2, Pages: 339-342, Published: MAR 2007
Genetics and Molecular Biology, Vol 30, Iss 2, Pp 339-342 (2007)

مصطلحات موضوعية: Genetics, Wolf-Hirschhorn syndrome, lcsh:QH426-470, Robinow syndrome, Partial duplication, Pitt-Rogers-Danks syndrome, Chromosome, Biology, medicine.disease, lcsh:Genetics, Chromosome 4, Genital hypoplasia, Radioulnar synostosis, medicine, PITT-ROGERS-DANKS SYNDROME, Molecular Biology, Wolf–Hirschhorn syndrome, translocation t(4, 8)

وصف الملف: text/html

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fc98dcc80da1b7918e8628fb9881a89c
http://www.scopus.com/inward/record.url?eid=2-s2.0-34547528201&partnerID=MN8TOARS

المؤلفون: J. W. E. Oorthuys, E. M. Bleeker-Wagemakers, Giovanni Neri, James F. Reynolds

المصدر: American Journal of Medical Genetics. 32:140-141

مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, Severely mentally retarded, business.industry, media_common.quotation_subject, Postnatal growth retardation, Syndrome, Unusual facies, Facial Expression, Phenotype, Intellectual Disability, Humans, Medicine, Female, PITT-ROGERS-DANKS SYNDROME, cardiovascular diseases, sense organs, Girl, Child, business, Growth Disorders, Genetics (clinical), media_common

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2410cfc1a843b6436986ec392607a921
https://doi.org/10.1002/ajmg.1320320130