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  American Journal of Medical Genetics Part A: Volume 140A, Issue 12

  Pages: 1257-1356

  15 June 2006

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Research Reviews

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New cases of Bohring–Opitz syndrome, update, and critical review of the literature^†

Axel Bohring,  Grétel G. Oudesluijs,  Dorothy K. Grange,  Giuseppe Zampino,  Patrick Thierry, 

• Pages: 1257-1263
• First Published: 11 May 2006

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Genetic Drift

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Unexpected resiliency^†

Robert Roger Lebel, 

• Pages: 1264-1266
• First Published: 11 May 2006

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Research Articles

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Nablus mask-like facial syndrome is caused by a microdeletion of 8q detected by array-based comparative genomic hybridization^†

Joseph T.C. Shieh,  Swaroop Aradhya,  Antonio Novelli,  Melanie A. Manning,  Athena M. Cherry,  Janet Brumblay,  Carmelo D. Salpietro,  Laura Bernardini,  Bruno Dallapiccola,  H. Eugene Hoyme, 

• Pages: 1267-1273
• First Published: 11 May 2006

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A novel RSK2 (RPS6KA3) gene mutation associated with abnormal brain MRI findings in a family with Coffin–Lowry syndrome^†

Yueying Wang,  Jose E. Martinez,  Glen L. Wilson,  Xi-Yu He,  Cathy M. Tuck-Muller,  Paul Maertens,  Wladimir Wertelecki,  Tian-Jian Chen, 

• Pages: 1274-1279
• First Published: 11 May 2006

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Comprehensive screening of multiple epiphyseal dysplasia mutations in Japanese population^†

Taichi Itoh,  Shuya Shirahama,  Eiji Nakashima,  Koichi Maeda,  Nobuhiko Haga,  Hiroshi Kitoh,  Rika Kosaki,  Hirofumi Ohashi,  Gen Nishimura,  Shiro Ikegawa, 

• Pages: 1280-1284
• First Published: 11 May 2006

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Blepharophimosis-mental retardation (BMR) syndromes: A proposed clinical classification of the so-called Ohdo syndrome, and delineation of two new BMR syndromes, one X-linked and one autosomal recessive^†

Alain Verloes,  Dominique Bremond-Gignac,  Bertrand Isidor,  Albert David,  Clarisse Baumann,  Marie-Anne Leroy,  René Stevens,  Yves Gillerot,  Delphine Héron,  Bénédicte Héron,  Brigitte Benzacken,  Didier Lacombe,  Han Brunner,  Pierre Bitoun, 

• Pages: 1285-1296
• First Published: 12 May 2006

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PHOX2B analysis in non-syndromic neuroblastoma cases shows novel mutations and genotype–phenotype associations^†‡

Carmel McConville,  Sarah Reid,  Linda Baskcomb,  Jenny Douglas,  Nazneen Rahman, 

• Pages: 1297-1301
• First Published: 11 May 2006

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Clinical Reports

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Trigonocephaly in a boy with paternally inherited deletion 22q11.2 syndrome^†

Toshiyuki Yamamoto,  Kiyoko Sameshima,  Ken-ichi Sekido,  Noriko Aida,  Naomichi Matsumoto,  Kenji Naritomi,  Kenji Kurosawa, 

• Pages: 1302-1304
• First Published: 11 May 2006

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Periventricular nodular heterotopia and Williams syndrome^†

Russell J. Ferland,  John N. Gaitanis,  Kira Apse,  Umadevi Tantravahi,  Christopher A. Walsh,  Volney L. Sheen, 

• Pages: 1305-1311
• First Published: 11 May 2006

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Overgrowth with severe developmental delay following IVF/ICSI: A newly recognized syndrome?^†

Prakesh S. Shah,  Rosanna Weksberg,  David Chitayat, 

• Pages: 1312-1315
• First Published: 11 May 2006

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A new case of Grange syndrome without cardiac findings^†

Robert Wallerstein,  Ann Marie Augustyn,  Donna Wallerstein,  Leslie Elton,  Beatriz Tejeiro,  Valerie Johnson,  Kenneth Lieberman, 

• Pages: 1316-1320
• First Published: 11 May 2006

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Hydrocephaly, penoscrotal transposition, and digital anomalies associated with de novo pseudodicentric rearranged chromosome 13 characterized by classical cytogenetic methods and mBAND analysis^†

Denise Maria Christofolini,  Maisa Yoshimoto,  Jeremy A. Squire,  Décio Brunoni,  Maria Isabel Melaragno,  Gianna Carvalheira, 

• Pages: 1321-1325
• First Published: 11 May 2006

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Autosomal dominant syndrome resembling Coffin–Siris syndrome^†

Maureen A. Flynn,  Jeff M. Milunsky, 

• Pages: 1326-1330
• First Published: 11 May 2006

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Research Letters

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Neurobehavioral disorders in patients with Aarskog–Scott syndrome affected by novel FGD1 mutations^†

Tadashi Kaname,  Kumiko Yanagi,  Nobuhiko Okamoto,  Kenji Naritomi, 

• Pages: 1331-1332
• First Published: 10 May 2006

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Craniofacial dyssynostosis in two boys with apparently normal cognitive development^†

Sam F. Lahidji,  Steven R. Buchman,  Karin Muraszko,  Jeffrey W. Innis,  Catherine E. Keegan, 

• Pages: 1333-1336
• First Published: 11 May 2006

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

Fabiola Quintero-Rivera,  Caroline D. Robson,  Rosemary E. Reiss,  Deborah Levine,  Carol B. Benson,  John B. Mulliken,  Virginia E. Kimonis, 

• Pages: 1337-1338
• First Published: 11 May 2006

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Report of a del22q11 in a patient with Mayer-Rokitansky-Küster-Hauser (MRKH) anomaly and exclusion of WNT-4, RAR-gamma, and RXR-alpha as major genes determining MRKH anomaly in a study of 25 affected women^†

Carola Cheroki,  Ana Cristina Krepischi-Santos,  Carla Rosenberg,  Fernanda Sarquis Jehee,  Regina Célia Mingroni-Netto,  Ivo Pavanello Filho,  Sebastião Zanforlin Filho,  Chong Ae Kim,  Vicente R. Bagnoli,  Berenice B. Mendonça,  Karoly Szuhai,  Paulo A. Otto, 

• Pages: 1339-1342
• First Published: 11 May 2006

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Identification of a novel EYA1 mutation presenting in a newborn with laryngomalacia, glossoptosis, retrognathia, and pectus excavatum^†

L. Spruijt,  L.H. Hoefsloot,  G.H.W.H. van Schaijk,  D. van Waardenburg,  B. Kremer,  H.J.L. Brackel,  C.E.M. de Die-Smulders, 

• Pages: 1343-1345
• First Published: 11 May 2006

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Evaluation of SLC35A3 as a candidate gene for human vertebral malformations^†

Nader Ghebranious,  James K. Burmester,  Ingrid Glurich,  Elizabeth McPherson,  Lynn Ivacic,  Jennifer Kislow,  Kristen Rasmussen,  Vikram Kumar,  Cathleen L. Raggio,  Robert D. Blank,  F. Stig Jacobsen,  Thomas Faciszewski,  James Womack,  Philip F. Giampietro, 

• Pages: 1346-1348
• First Published: 11 May 2006

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

Silvia Bione,  Sara Benedetti,  Mara Goegan,  Immacolata Menditto,  Anna Marozzi,  Maurizio Ferrari,  Daniela Toniolo, 

• Pages: 1349-1351
• First Published: 11 May 2006

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Book Reviews

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Book review^†

Nancy Carson, 

• Page: 1352
• First Published: 11 May 2006

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Correspondence

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Response to “Letter: Fibular Aplasia, Tibial Campomelia and Oligosyndactyly” by Evans and Elliott^†

Winnie Courtens,  Filip Vanhoenacker, 

• Page: 1353
• First Published: 01 May 2006

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Epilepsy and deletions at chromosome 2q24^†

Sandrine Pereira,  José Pedro Vieira,  Pierre Cau,  Pierre Genton,  Pierre Szepetowski, 

• Pages: 1354-1355
• First Published: 12 May 2006

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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, 

• Page: 1356
• First Published: 11 May 2006

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