Med Genet Part Research Articles

Renal malformations in deletion 22q11.2 patients

American Journal of Medical Genetics Part AVolume 140A, Issue 14 p. 1601-1602 Research Letter Renal malformations in deletion 22q11.2 patients† Annegret Kujat, Corresponding Author Annegret Kujat annegret.kujat@medizin.uni-leipzig.de Institute of Human Genetics, University of Leipzig, Medical Faculty, GermanyInstitut für Humangenetik, (Direktor: Prof. Dr. U. G. Froster), Universität Leipzig, Philipp-Rosenthal-Strasse 55, 04 103 Leipzig.Search for more papers by this authorMarc D. Schulz, Marc D. Schulz Institute of Human Genetics, University of Leipzig, Medical Faculty, GermanySearch for more papers by this authorSibylle Strenge, Sibylle Strenge Institute of Human Genetics, University of Leipzig, Medical Faculty, GermanySearch for more papers by this authorUrsula G. Froster, Ursula G. Froster Institute of Human Genetics, University of Leipzig, Medical Faculty, GermanySearch for more papers by this author Annegret Kujat, Corresponding Author Annegret Kujat annegret.kujat@medizin.uni-leipzig.de Institute of Human Genetics, University of Leipzig, Medical Faculty, GermanyInstitut für Humangenetik, (Direktor: Prof. Dr. U. G. Froster), Universität Leipzig, Philipp-Rosenthal-Strasse 55, 04 103 Leipzig.Search for more papers by this authorMarc D. Schulz, Marc D. Schulz Institute of Human Genetics, University of Leipzig, Medical Faculty, GermanySearch for more papers by this authorSibylle Strenge, Sibylle Strenge Institute of Human Genetics, University of Leipzig, Medical Faculty, GermanySearch for more papers by this authorUrsula G. Froster, Ursula G. Froster Institute of Human Genetics, University of Leipzig, Medical Faculty, GermanySearch for more papers by this author First published: 07 June 2006 https://doi.org/10.1002/ajmg.a.31289Citations: 19 † How to cite this article: Kujat A, Schulz MD, Strenge S, Froster UG. 2006. Renal malformations in deletion 22q11.2 patients. Am J Med Genet Part A 140A:1601–1602. Read the full textAboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onFacebookTwitterLinked InRedditWechat No abstract is available for this article.Citing Literature Volume140A, Issue1415 July 2006Pages 1601-1602 RelatedInformation

Intracranial anomalies detected by imaging studies in 30 patients with Apert syndrome

American Journal of Medical Genetics Part AVolume 140A, Issue 12 p. 1337-1338 Research Letter Intracranial anomalies detected by imaging studies in 30 patients with Apert syndrome† Fabiola Quintero-Rivera, Fabiola Quintero-Rivera Center for Human Genetic Research, Massachusetts General Hospital, Boston, Massachusetts Harvard Medical School, Boston, MassachusettsSearch for more papers by this authorCaroline D. Robson, Caroline D. Robson Department of Radiology, Children's Hospital, Boston, Massachusetts Harvard Medical School, Boston, MassachusettsSearch for more papers by this authorRosemary E. Reiss, Rosemary E. Reiss Maternal Fetal Medicine, Brigham and Women's Hospital, Boston, Massachusetts Harvard Medical School, Boston, MassachusettsSearch for more papers by this authorDeborah Levine, Deborah Levine Department of Radiology, Beth Israel Deaconess Medical Center, Boston, Massachusetts Harvard Medical School, Boston, MassachusettsSearch for more papers by this authorCarol B. Benson, Carol B. Benson Department of Radiology, Brigham and Women's Hospital, Boston, Massachusetts Harvard Medical School, Boston, MassachusettsSearch for more papers by this authorJohn B. Mulliken, John B. Mulliken Division of Plastic Surgery, Children's Hospital, Boston, Massachusetts Harvard Medical School, Boston, MassachusettsSearch for more papers by this authorVirginia E. Kimonis, Corresponding Author Virginia E. Kimonis [email protected] Division of Genetics and Metabolism, Children's Hospital, Boston, Massachusetts Harvard Medical School, Boston, MassachusettsDivision of Genetics & Metabolism, Children's Hospital, Harvard Medical School, 300 Longwood Avenue, Boston, MA 02115.Search for more papers by this author Fabiola Quintero-Rivera, Fabiola Quintero-Rivera Center for Human Genetic Research, Massachusetts General Hospital, Boston, Massachusetts Harvard Medical School, Boston, MassachusettsSearch for more papers by this authorCaroline D. Robson, Caroline D. Robson Department of Radiology, Children's Hospital, Boston, Massachusetts Harvard Medical School, Boston, MassachusettsSearch for more papers by this authorRosemary E. Reiss, Rosemary E. Reiss Maternal Fetal Medicine, Brigham and Women's Hospital, Boston, Massachusetts Harvard Medical School, Boston, MassachusettsSearch for more papers by this authorDeborah Levine, Deborah Levine Department of Radiology, Beth Israel Deaconess Medical Center, Boston, Massachusetts Harvard Medical School, Boston, MassachusettsSearch for more papers by this authorCarol B. Benson, Carol B. Benson Department of Radiology, Brigham and Women's Hospital, Boston, Massachusetts Harvard Medical School, Boston, MassachusettsSearch for more papers by this authorJohn B. Mulliken, John B. Mulliken Division of Plastic Surgery, Children's Hospital, Boston, Massachusetts Harvard Medical School, Boston, MassachusettsSearch for more papers by this authorVirginia E. Kimonis, Corresponding Author Virginia E. Kimonis [email protected] Division of Genetics and Metabolism, Children's Hospital, Boston, Massachusetts Harvard Medical School, Boston, MassachusettsDivision of Genetics & Metabolism, Children's Hospital, Harvard Medical School, 300 Longwood Avenue, Boston, MA 02115.Search for more papers by this author First published: 11 May 2006 https://doi.org/10.1002/ajmg.a.31277Citations: 28 † How to cite this article: Quintero-Rivera F, Robson CD, Reiss RE, Levine D, Benson C, Mulliken JB, Kimonis VE. 2006. Intracranial anomalies detected by imaging studies in 30 patients with Apert syndrome. Am J Med Genet Part A 140A:1337–1338. Read the full textAboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL No abstract is available for this article.Citing Literature Volume140A, Issue1215 June 2006Pages 1337-1338 RelatedInformation

Skewed X‐chromosome inactivation is not associated with premature ovarian failure in a large cohort of Italian patients

American Journal of Medical Genetics Part AVolume 140A, Issue 12 p. 1349-1351 Research Letter Skewed X-chromosome inactivation is not associated with premature ovarian failure in a large cohort of Italian patients† Silvia Bione, Silvia Bione Institute of Molecular Genetics, CNR, Pavia, Italy DIBIT, San Raffaele Scientific Institute, Milan, ItalySearch for more papers by this authorSara Benedetti, Sara Benedetti Clinical Molecular Biology, Diagnostics and Research San Raffaele, Milan, ItalySearch for more papers by this authorMara Goegan, Mara Goegan DIBIT, San Raffaele Scientific Institute, Milan, ItalySearch for more papers by this authorImmacolata Menditto, Immacolata Menditto Clinical Molecular Biology, Diagnostics and Research San Raffaele, Milan, ItalySearch for more papers by this authorAnna Marozzi, Anna Marozzi Department of Biology and Genetics for Medical Sciences, University of Milan, Milan, ItalySearch for more papers by this authorMaurizio Ferrari, Maurizio Ferrari Clinical Molecular Biology, Diagnostics and Research San Raffaele, Milan, Italy Unit for Genomics for Human Disease Diagnosis, San Raffaele Scientific Institute, Milan, Italy Vita-Salute San Raffaele University, Milan, ItalySearch for more papers by this authorDaniela Toniolo, Corresponding Author Daniela Toniolo [email protected] DIBIT, San Raffaele Scientific Institute, Milan, ItalyDIBIT, San Raffaele Scientific Institute, Via Olgettina 58, 20132 Milano, Italy.Search for more papers by this author Silvia Bione, Silvia Bione Institute of Molecular Genetics, CNR, Pavia, Italy DIBIT, San Raffaele Scientific Institute, Milan, ItalySearch for more papers by this authorSara Benedetti, Sara Benedetti Clinical Molecular Biology, Diagnostics and Research San Raffaele, Milan, ItalySearch for more papers by this authorMara Goegan, Mara Goegan DIBIT, San Raffaele Scientific Institute, Milan, ItalySearch for more papers by this authorImmacolata Menditto, Immacolata Menditto Clinical Molecular Biology, Diagnostics and Research San Raffaele, Milan, ItalySearch for more papers by this authorAnna Marozzi, Anna Marozzi Department of Biology and Genetics for Medical Sciences, University of Milan, Milan, ItalySearch for more papers by this authorMaurizio Ferrari, Maurizio Ferrari Clinical Molecular Biology, Diagnostics and Research San Raffaele, Milan, Italy Unit for Genomics for Human Disease Diagnosis, San Raffaele Scientific Institute, Milan, Italy Vita-Salute San Raffaele University, Milan, ItalySearch for more papers by this authorDaniela Toniolo, Corresponding Author Daniela Toniolo [email protected] DIBIT, San Raffaele Scientific Institute, Milan, ItalyDIBIT, San Raffaele Scientific Institute, Via Olgettina 58, 20132 Milano, Italy.Search for more papers by this author First published: 11 May 2006 https://doi.org/10.1002/ajmg.a.31312Citations: 15 † How to cite this article: Bione S, Benedetti S, Goegan M, Menditto I, Marozzi A, Ferrari M, Toniolo D. 2006. Skewed X-chromosome inactivation is not associated with premature ovarian failure in a large cohort of Italian patients. Am J Med Genet Part A 140A:1349–1351. Read the full textAboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Citing Literature Volume140A, Issue1215 June 2006Pages 1349-1351 RelatedInformation

Re: Majewski osteodysplastic primordial dwarfism type II (MOPD II) complicated by stroke: Clinical report and review of cerebral vascular anomalies [Brancati et al., 2005: Am J Med Genet 139A:212–215

American Journal of Medical Genetics Part AVolume 140A, Issue 12 p. 1356-1356 Correspondence Re: Majewski osteodysplastic primordial dwarfism type II (MOPD II) complicated by stroke: Clinical report and review of cerebral vascular anomalies [Brancati et al., 2005: Am J Med Genet 139A:212–215]† Judith G. Hall, Corresponding Author Judith G. Hall [email protected] Department of Pediatrics, UBC & Children's and Women's Health Centre of BC, BC's Children's Hospital, Vancouver, BCProfessor of Pediatrics and Medical Genetics, Department of Pediatrics, UBC & Children's and Women's Health Centre of BC, BC's Children's Hospital, 4480 Oak St., Room 2D19, Vancouver, BC V6H 3V4.Search for more papers by this author Judith G. Hall, Corresponding Author Judith G. Hall [email protected] Department of Pediatrics, UBC & Children's and Women's Health Centre of BC, BC's Children's Hospital, Vancouver, BCProfessor of Pediatrics and Medical Genetics, Department of Pediatrics, UBC & Children's and Women's Health Centre of BC, BC's Children's Hospital, 4480 Oak St., Room 2D19, Vancouver, BC V6H 3V4.Search for more papers by this author First published: 11 May 2006 https://doi.org/10.1002/ajmg.a.31301Citations: 4 † How to cite this article: Hall JG. 2006. Re: Majewski osteodysplastic primordial dwarfism type II (MOPD II) complicated by stroke: Clinical report and review of cerebral vascular anomalies [Brancati et al., 2005: Am J Med Genet 139A:212–215]. Am J Med Genet Part A 140A:1356. Read the full textAboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onFacebookTwitterLinkedInRedditWechat No abstract is available for this article.Citing Literature Volume140A, Issue1215 June 2006Pages 1356-1356 RelatedInformation

Book review

American Journal of Medical Genetics Part AVolume 140A, Issue 12 p. 1352-1352 Book Review Book review† Nancy Carson, Nancy Carson Molecular Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada K1H 8LSearch for more papers by this author Nancy Carson, Nancy Carson Molecular Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada K1H 8LSearch for more papers by this author First published: 11 May 2006 https://doi.org/10.1002/ajmg.a.31280 † How to cite this article: Carson N. 2006. Book review. Am J Med Genet Part A 140A:1352. Read the full textAboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onFacebookTwitterLinked InRedditWechat No abstract is available for this article. Volume140A, Issue1215 June 2006Pages 1352-1352 RelatedInformation

Book review

American Journal of Medical Genetics Part AVolume 140A, Issue 15 p. 1707-1708 Book Review Book review† Ronald G. Davidson, Ronald G. Davidson Department of Pediatrics, Program in Human Genetics, McMaster University Faculty of Health Sciences, Hamilton, Ontario, CanadaSearch for more papers by this author Ronald G. Davidson, Ronald G. Davidson Department of Pediatrics, Program in Human Genetics, McMaster University Faculty of Health Sciences, Hamilton, Ontario, CanadaSearch for more papers by this author First published: 11 May 2006 https://doi.org/10.1002/ajmg.a.31282 † How to cite this article: Davidson RG. 2006. Book review. Am J Med Genet Part A 140A:1707–1708. Read the full textAboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onFacebookTwitterLinked InRedditWechat No abstract is available for this article. Volume140A, Issue151 August 2006Pages 1707-1708 RelatedInformation

Response to the Alvarez Nava and Puerta “Y‐chromosome microdeletions in 45,X/46,XY patients”

American Journal of Medical Genetics Part AVolume 140A, Issue 11 p. 1251-1252 Correspondence Response to the Alvarez Nava and Puerta “Y-chromosome microdeletions in 45,X/46,XY patients”† Philippos C. Patsalis, Corresponding Author Philippos C. Patsalis [email protected] Department of Cytogenetics, The Cyprus Institute of Neurology and Genetics, Nicosia, CyprusHead, Department of Cytogenetics, The Cyprus Institute of Neurology and Genetics, P.O. Box 23462, 1683 Nicosia, Cyprus.Search for more papers by this author Philippos C. Patsalis, Corresponding Author Philippos C. Patsalis [email protected] Department of Cytogenetics, The Cyprus Institute of Neurology and Genetics, Nicosia, CyprusHead, Department of Cytogenetics, The Cyprus Institute of Neurology and Genetics, P.O. Box 23462, 1683 Nicosia, Cyprus.Search for more papers by this author First published: 26 April 2006 https://doi.org/10.1002/ajmg.a.31230 † How to cite this article: Patsalis PC. 2006. Response to the Alvarez Nava and Puerta “Y-Chromosome Microdeletions in 45,X/46,XY Patients”. Am J Med Genet Part A 140A:1251–1252. Read the full textAboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL No abstract is available for this article. Volume140A, Issue111 June 2006Pages 1251-1252 RelatedInformation

Familial Klippel–Feil anomaly and t(5;8)(q35.1;p21.1) translocation

American Journal of Medical Genetics Part AVolume 140A, Issue 9 p. 1013-1015 Research Letter Familial Klippel–Feil anomaly and t(5;8)(q35.1;p21.1) translocation† Masahiro Goto, Masahiro Goto Department of Pediatrics, Tokyo Metropolitan Hachioji Children's Hospital, Hachioji, JapanSearch for more papers by this authorGen Nishimura, Gen Nishimura Division of Radiology, Tokyo Metropolitan Kiyose Children's Hospital, Kiyose, JapanSearch for more papers by this authorToshiro Nagai, Toshiro Nagai Department of Pediatrics, Dokkyo University School of Medicine Koshigaya Hospital, Koshigaya, JapanSearch for more papers by this authorKazuki Yamazawa, Kazuki Yamazawa Department of Endocrinology and Metabolism, National Research Institute for Child Health and Development, Tokyo, JapanSearch for more papers by this authorTsutomu Ogata, Corresponding Author Tsutomu Ogata [email protected] Department of Endocrinology and Metabolism, National Research Institute for Child Health and Development, Tokyo, JapanDepartment of Endocrinology and Metabolism, National Research Institute for Child Health and Development 2-10-1 Ohkura, Setagaya, Tokyo 157-8535, Japan.Search for more papers by this author Masahiro Goto, Masahiro Goto Department of Pediatrics, Tokyo Metropolitan Hachioji Children's Hospital, Hachioji, JapanSearch for more papers by this authorGen Nishimura, Gen Nishimura Division of Radiology, Tokyo Metropolitan Kiyose Children's Hospital, Kiyose, JapanSearch for more papers by this authorToshiro Nagai, Toshiro Nagai Department of Pediatrics, Dokkyo University School of Medicine Koshigaya Hospital, Koshigaya, JapanSearch for more papers by this authorKazuki Yamazawa, Kazuki Yamazawa Department of Endocrinology and Metabolism, National Research Institute for Child Health and Development, Tokyo, JapanSearch for more papers by this authorTsutomu Ogata, Corresponding Author Tsutomu Ogata [email protected] Department of Endocrinology and Metabolism, National Research Institute for Child Health and Development, Tokyo, JapanDepartment of Endocrinology and Metabolism, National Research Institute for Child Health and Development 2-10-1 Ohkura, Setagaya, Tokyo 157-8535, Japan.Search for more papers by this author First published: 14 April 2006 https://doi.org/10.1002/ajmg.a.31198Citations: 14 † How to cite this article: Goto M, Nishimura G, Nagai T, Yamazawa K, Ogata T. 2006. Familial Klippel–Feil anomaly and t(5;8)(q35.1;p21.1) translocation. Am J Med Genet Part A 140A:1013–1015. Read the full textAboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Citing Literature Volume140A, Issue91 May 2006Pages 1013-1015 RelatedInformation

Response to Wieczorek and Gillessen-Kaesbach letter addressing “A Novel Oculo-Oto-Facial Dysplasia in a Native Alaskan Community With Autosomal Recessive Inheritance”

American Journal of Medical Genetics Part AVolume 140A, Issue 21 p. 2383-2384 Correspondence Response to Wieczorek and Gillessen-Kaesbach letter addressing “A Novel Oculo-Oto-Facial Dysplasia in a Native Alaskan Community With Autosomal Recessive Inheritance”† Anne Hing, Corresponding Author Anne Hing ahing@u.washington.edu Division of Genetics and Development, Children's Hospital, Seattle, WashingtonDepartment of Pediatrics, University of Washington, Box 356320, Seattle, WA 98195-6320.Search for more papers by this authorMelissa Parisi, Melissa Parisi Division of Genetics and Development, Children's Hospital, Seattle, WashingtonSearch for more papers by this author Anne Hing, Corresponding Author Anne Hing ahing@u.washington.edu Division of Genetics and Development, Children's Hospital, Seattle, WashingtonDepartment of Pediatrics, University of Washington, Box 356320, Seattle, WA 98195-6320.Search for more papers by this authorMelissa Parisi, Melissa Parisi Division of Genetics and Development, Children's Hospital, Seattle, WashingtonSearch for more papers by this author First published: 04 October 2006 https://doi.org/10.1002/ajmg.a.31477Citations: 1 † How to cite this article: Hing A, Parisi M. 2006. Response to Wieczorek and Gillessen-Kaesbach letter addressing “A Novel Oculo-Oto-Facial Dysplasia in a Native Alaskan Community With Autosomal Recessive Inheritance”. Am J Med Genet Part A 140A:2383–2384. Read the full textAboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onFacebookTwitterLinked InRedditWechat No abstract is available for this article.Citing Literature Volume140A, Issue211 November 2006Pages 2383-2384 RelatedInformation