American Journal of Medical Genetics Part A

Cover image for American Journal of Medical Genetics Part A

Special Issue: M. Michael Cohen Jr. Festschrift

15 December 2007

Volume 143A, Issue 24

Pages 2851–3327

  1. Introduction

    1. Top of page
    2. Introduction
    3. Research Articles
    4. Research Reviews
    5. Commentary
    6. Research Reviews
    7. Genetic Drift
    8. Research Reviews
    9. Research Articles
    10. Clinical Reports
    11. Research Articles
    12. Clinical Reports
    13. Research Articles
    14. Correspondence
    15. Research Articles
    16. Research Reviews
    17. Research Letters
    18. Research Articles
    19. Clinical Reports
    20. Research Reviews
    21. Research Articles
    22. Research Reviews
    23. Research Articles
    24. Clinical Reports
    25. Research Reviews
    26. Research Articles
    27. New Syndrome
    28. Research Letters
    29. Clinical Reports
    30. Research Articles
    31. Clinical Reports
    32. Research Articles
    33. Clinical Reports
    34. Research Articles
    35. Research Reviews
    36. Clinical Reports
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  2. Research Articles

    1. Top of page
    2. Introduction
    3. Research Articles
    4. Research Reviews
    5. Commentary
    6. Research Reviews
    7. Genetic Drift
    8. Research Reviews
    9. Research Articles
    10. Clinical Reports
    11. Research Articles
    12. Clinical Reports
    13. Research Articles
    14. Correspondence
    15. Research Articles
    16. Research Reviews
    17. Research Letters
    18. Research Articles
    19. Clinical Reports
    20. Research Reviews
    21. Research Articles
    22. Research Reviews
    23. Research Articles
    24. Clinical Reports
    25. Research Reviews
    26. Research Articles
    27. New Syndrome
    28. Research Letters
    29. Clinical Reports
    30. Research Articles
    31. Clinical Reports
    32. Research Articles
    33. Clinical Reports
    34. Research Articles
    35. Research Reviews
    36. Clinical Reports
  3. Research Reviews

    1. Top of page
    2. Introduction
    3. Research Articles
    4. Research Reviews
    5. Commentary
    6. Research Reviews
    7. Genetic Drift
    8. Research Reviews
    9. Research Articles
    10. Clinical Reports
    11. Research Articles
    12. Clinical Reports
    13. Research Articles
    14. Correspondence
    15. Research Articles
    16. Research Reviews
    17. Research Letters
    18. Research Articles
    19. Clinical Reports
    20. Research Reviews
    21. Research Articles
    22. Research Reviews
    23. Research Articles
    24. Clinical Reports
    25. Research Reviews
    26. Research Articles
    27. New Syndrome
    28. Research Letters
    29. Clinical Reports
    30. Research Articles
    31. Clinical Reports
    32. Research Articles
    33. Clinical Reports
    34. Research Articles
    35. Research Reviews
    36. Clinical Reports
    1. Status of the human malformation map: 2007 (pages 2868–2885)

      John C. Carey and David H. Viskochil

      Article first published online: 13 NOV 2007 | DOI: 10.1002/ajmg.a.32103

  4. Commentary

    1. Top of page
    2. Introduction
    3. Research Articles
    4. Research Reviews
    5. Commentary
    6. Research Reviews
    7. Genetic Drift
    8. Research Reviews
    9. Research Articles
    10. Clinical Reports
    11. Research Articles
    12. Clinical Reports
    13. Research Articles
    14. Correspondence
    15. Research Articles
    16. Research Reviews
    17. Research Letters
    18. Research Articles
    19. Clinical Reports
    20. Research Reviews
    21. Research Articles
    22. Research Reviews
    23. Research Articles
    24. Clinical Reports
    25. Research Reviews
    26. Research Articles
    27. New Syndrome
    28. Research Letters
    29. Clinical Reports
    30. Research Articles
    31. Clinical Reports
    32. Research Articles
    33. Clinical Reports
    34. Research Articles
    35. Research Reviews
    36. Clinical Reports
    1. You have free access to this content
  5. Research Reviews

    1. Top of page
    2. Introduction
    3. Research Articles
    4. Research Reviews
    5. Commentary
    6. Research Reviews
    7. Genetic Drift
    8. Research Reviews
    9. Research Articles
    10. Clinical Reports
    11. Research Articles
    12. Clinical Reports
    13. Research Articles
    14. Correspondence
    15. Research Articles
    16. Research Reviews
    17. Research Letters
    18. Research Articles
    19. Clinical Reports
    20. Research Reviews
    21. Research Articles
    22. Research Reviews
    23. Research Articles
    24. Clinical Reports
    25. Research Reviews
    26. Research Articles
    27. New Syndrome
    28. Research Letters
    29. Clinical Reports
    30. Research Articles
    31. Clinical Reports
    32. Research Articles
    33. Clinical Reports
    34. Research Articles
    35. Research Reviews
    36. Clinical Reports
  6. Genetic Drift

    1. Top of page
    2. Introduction
    3. Research Articles
    4. Research Reviews
    5. Commentary
    6. Research Reviews
    7. Genetic Drift
    8. Research Reviews
    9. Research Articles
    10. Clinical Reports
    11. Research Articles
    12. Clinical Reports
    13. Research Articles
    14. Correspondence
    15. Research Articles
    16. Research Reviews
    17. Research Letters
    18. Research Articles
    19. Clinical Reports
    20. Research Reviews
    21. Research Articles
    22. Research Reviews
    23. Research Articles
    24. Clinical Reports
    25. Research Reviews
    26. Research Articles
    27. New Syndrome
    28. Research Letters
    29. Clinical Reports
    30. Research Articles
    31. Clinical Reports
    32. Research Articles
    33. Clinical Reports
    34. Research Articles
    35. Research Reviews
    36. Clinical Reports
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  7. Research Reviews

    1. Top of page
    2. Introduction
    3. Research Articles
    4. Research Reviews
    5. Commentary
    6. Research Reviews
    7. Genetic Drift
    8. Research Reviews
    9. Research Articles
    10. Clinical Reports
    11. Research Articles
    12. Clinical Reports
    13. Research Articles
    14. Correspondence
    15. Research Articles
    16. Research Reviews
    17. Research Letters
    18. Research Articles
    19. Clinical Reports
    20. Research Reviews
    21. Research Articles
    22. Research Reviews
    23. Research Articles
    24. Clinical Reports
    25. Research Reviews
    26. Research Articles
    27. New Syndrome
    28. Research Letters
    29. Clinical Reports
    30. Research Articles
    31. Clinical Reports
    32. Research Articles
    33. Clinical Reports
    34. Research Articles
    35. Research Reviews
    36. Clinical Reports
    1. Emerging infections and pregnancy: Assessing the impact on the embryo or fetus (pages 2896–2903)

      Sonja A. Rasmussen, Edward B. Hayes, Denise J. Jamieson and Daniel R. O'Leary

      Article first published online: 14 NOV 2007 | DOI: 10.1002/ajmg.a.32077

  8. Research Articles

    1. Top of page
    2. Introduction
    3. Research Articles
    4. Research Reviews
    5. Commentary
    6. Research Reviews
    7. Genetic Drift
    8. Research Reviews
    9. Research Articles
    10. Clinical Reports
    11. Research Articles
    12. Clinical Reports
    13. Research Articles
    14. Correspondence
    15. Research Articles
    16. Research Reviews
    17. Research Letters
    18. Research Articles
    19. Clinical Reports
    20. Research Reviews
    21. Research Articles
    22. Research Reviews
    23. Research Articles
    24. Clinical Reports
    25. Research Reviews
    26. Research Articles
    27. New Syndrome
    28. Research Letters
    29. Clinical Reports
    30. Research Articles
    31. Clinical Reports
    32. Research Articles
    33. Clinical Reports
    34. Research Articles
    35. Research Reviews
    36. Clinical Reports
    1. Infrequently studied congenital anomalies as clues to the diagnosis of maternal diabetes mellitus (pages 2904–2909)

      Jaime L. Frías, Juan P. Frías, Patricio A. Frías and María Luisa Martínez-Frías

      Article first published online: 13 NOV 2007 | DOI: 10.1002/ajmg.a.32071

    2. Mosaic tetrasomy 12p with triplication of 12p detected by array-based comparative genomic hybridization of peripheral blood DNA (pages 2910–2915)

      Zöe Powis, Sung-Hae L. Kang, M. Lance Cooper, Ankita Patel, Daniel A. Peiffer, Anne Hawkins, Randall Heidenreich, Kevin L. Gunderson, Sau W. Cheung and Robert P. Erickson

      Article first published online: 13 NOV 2007 | DOI: 10.1002/ajmg.a.31959

    3. Relationship between dysmorphic features and general cognitive function in children with fetal alcohol spectrum disorders (pages 2916–2923)

      Nina Ervalahti, Marit Korkman, Åse Fagerlund, Ilona Autti-Rämö, Leena Loimu and H. Eugene Hoyme

      Article first published online: 13 NOV 2007 | DOI: 10.1002/ajmg.a.32009

    4. Molecular diagnosis of 22q11.2 deletion and duplication by multiplex ligation dependent probe amplification (pages 2924–2930)

      Andrea C. Stachon, Berivan Baskin, Adam C. Smith, Andrea Shugar, Cheryl Cytrynbaum, Leona Fishman, Roberto Mendoza-Londono, Regan Klatt, Ahmed Teebi, Peter N. Ray and Rosanna Weksberg

      Article first published online: 14 NOV 2007 | DOI: 10.1002/ajmg.a.32101

  9. Clinical Reports

    1. Top of page
    2. Introduction
    3. Research Articles
    4. Research Reviews
    5. Commentary
    6. Research Reviews
    7. Genetic Drift
    8. Research Reviews
    9. Research Articles
    10. Clinical Reports
    11. Research Articles
    12. Clinical Reports
    13. Research Articles
    14. Correspondence
    15. Research Articles
    16. Research Reviews
    17. Research Letters
    18. Research Articles
    19. Clinical Reports
    20. Research Reviews
    21. Research Articles
    22. Research Reviews
    23. Research Articles
    24. Clinical Reports
    25. Research Reviews
    26. Research Articles
    27. New Syndrome
    28. Research Letters
    29. Clinical Reports
    30. Research Articles
    31. Clinical Reports
    32. Research Articles
    33. Clinical Reports
    34. Research Articles
    35. Research Reviews
    36. Clinical Reports
    1. Craniosynostosis associated with distal 5q-trisomy: Further evidence that extra copy of MSX2 gene leads to craniosynostosis (pages 2931–2936)

      Jia-Chi Wang, Michelle Steinraths, Linda Dang, Brenda Lomax, Patrice Eydoux, Tracy Stockley, Siu-Li Yong and Margot I. Van Allen

      Article first published online: 22 OCT 2007 | DOI: 10.1002/ajmg.a.31946

    2. Syndromic craniosynostosis due to complex chromosome 5 rearrangement and MSX2 gene triplication (pages 2937–2943)

      Laura Bernardini, Marco Castori, Anna Capalbo, Vahe Mokini, Rita Mingarelli, Paolo Simi, Alice Bertuccelli, Antonio Novelli and Bruno Dallapiccola

      Article first published online: 13 NOV 2007 | DOI: 10.1002/ajmg.a.32092

  10. Research Articles

    1. Top of page
    2. Introduction
    3. Research Articles
    4. Research Reviews
    5. Commentary
    6. Research Reviews
    7. Genetic Drift
    8. Research Reviews
    9. Research Articles
    10. Clinical Reports
    11. Research Articles
    12. Clinical Reports
    13. Research Articles
    14. Correspondence
    15. Research Articles
    16. Research Reviews
    17. Research Letters
    18. Research Articles
    19. Clinical Reports
    20. Research Reviews
    21. Research Articles
    22. Research Reviews
    23. Research Articles
    24. Clinical Reports
    25. Research Reviews
    26. Research Articles
    27. New Syndrome
    28. Research Letters
    29. Clinical Reports
    30. Research Articles
    31. Clinical Reports
    32. Research Articles
    33. Clinical Reports
    34. Research Articles
    35. Research Reviews
    36. Clinical Reports
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      Newly delineated syndrome of congenital lipomatous overgrowth, vascular malformations, and epidermal nevi (CLOVE syndrome) in seven patients (pages 2944–2958)

      Julie C. Sapp, Joyce T. Turner, Jiddeke M. van de Kamp, Fleur S. van Dijk, R. Brian Lowry and Leslie G. Biesecker

      Article first published online: 26 OCT 2007 | DOI: 10.1002/ajmg.a.32023

    2. Brain anomalies in encephalocraniocutaneous lipomatosis (pages 2963–2972)

      Ute Moog, Marilyn C. Jones, David H. Viskochil, Alain Verloes, Margot I. Van Allen and William B. Dobyns

      Article first published online: 14 NOV 2007 | DOI: 10.1002/ajmg.a.32074

  11. Clinical Reports

    1. Top of page
    2. Introduction
    3. Research Articles
    4. Research Reviews
    5. Commentary
    6. Research Reviews
    7. Genetic Drift
    8. Research Reviews
    9. Research Articles
    10. Clinical Reports
    11. Research Articles
    12. Clinical Reports
    13. Research Articles
    14. Correspondence
    15. Research Articles
    16. Research Reviews
    17. Research Letters
    18. Research Articles
    19. Clinical Reports
    20. Research Reviews
    21. Research Articles
    22. Research Reviews
    23. Research Articles
    24. Clinical Reports
    25. Research Reviews
    26. Research Articles
    27. New Syndrome
    28. Research Letters
    29. Clinical Reports
    30. Research Articles
    31. Clinical Reports
    32. Research Articles
    33. Clinical Reports
    34. Research Articles
    35. Research Reviews
    36. Clinical Reports
    1. Encephalocraniocutaneous lipomatosis accompanied by the formation of bone cysts: Harboring clues to pathogenesis? (pages 2973–2980)

      Ute Moog, Filip Roelens, Geert R. Mortier, Han Sijstermans, Mary Kelly, Gerald F. Cox, Caroline D. Robson and Virginia E. Kimonis

      Article first published online: 13 NOV 2007 | DOI: 10.1002/ajmg.a.31957

  12. Research Articles

    1. Top of page
    2. Introduction
    3. Research Articles
    4. Research Reviews
    5. Commentary
    6. Research Reviews
    7. Genetic Drift
    8. Research Reviews
    9. Research Articles
    10. Clinical Reports
    11. Research Articles
    12. Clinical Reports
    13. Research Articles
    14. Correspondence
    15. Research Articles
    16. Research Reviews
    17. Research Letters
    18. Research Articles
    19. Clinical Reports
    20. Research Reviews
    21. Research Articles
    22. Research Reviews
    23. Research Articles
    24. Clinical Reports
    25. Research Reviews
    26. Research Articles
    27. New Syndrome
    28. Research Letters
    29. Clinical Reports
    30. Research Articles
    31. Clinical Reports
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    33. Clinical Reports
    34. Research Articles
    35. Research Reviews
    36. Clinical Reports
    1. Neuroimaging findings in macrocephaly–capillary malformation: A longitudinal study of 17 patients (pages 2981–3008)

      Robert L. Conway, Barry D. Pressman, William B. Dobyns, Moise Danielpour, John Lee, Pedro A. Sanchez-Lara, Merlin G. Butler, Elaine Zackai, Lindsey Campbell, Sulagna C. Saitta, Carol L. Clericuzio, Jeff M. Milunsky, H. Eugene Hoyme, Joseph Shieh, John B. Moeschler, Barbara Crandall, Julie L. Lauzon, David H. Viskochil, Brian Harding and John M. Graham Jr.

      Article first published online: 13 NOV 2007 | DOI: 10.1002/ajmg.a.32040

  13. Correspondence

    1. Top of page
    2. Introduction
    3. Research Articles
    4. Research Reviews
    5. Commentary
    6. Research Reviews
    7. Genetic Drift
    8. Research Reviews
    9. Research Articles
    10. Clinical Reports
    11. Research Articles
    12. Clinical Reports
    13. Research Articles
    14. Correspondence
    15. Research Articles
    16. Research Reviews
    17. Research Letters
    18. Research Articles
    19. Clinical Reports
    20. Research Reviews
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    24. Clinical Reports
    25. Research Reviews
    26. Research Articles
    27. New Syndrome
    28. Research Letters
    29. Clinical Reports
    30. Research Articles
    31. Clinical Reports
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    33. Clinical Reports
    34. Research Articles
    35. Research Reviews
    36. Clinical Reports
  14. Research Articles

    1. Top of page
    2. Introduction
    3. Research Articles
    4. Research Reviews
    5. Commentary
    6. Research Reviews
    7. Genetic Drift
    8. Research Reviews
    9. Research Articles
    10. Clinical Reports
    11. Research Articles
    12. Clinical Reports
    13. Research Articles
    14. Correspondence
    15. Research Articles
    16. Research Reviews
    17. Research Letters
    18. Research Articles
    19. Clinical Reports
    20. Research Reviews
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    24. Clinical Reports
    25. Research Reviews
    26. Research Articles
    27. New Syndrome
    28. Research Letters
    29. Clinical Reports
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    35. Research Reviews
    36. Clinical Reports
    1. Severe presentation of Beckwith–Wiedemann syndrome associated with high levels of constitutional paternal uniparental disomy for chromosome 11p15 (pages 3010–3015)

      Adam C. Smith, Cheryl Shuman, David Chitayat, Leslie Steele, Peter N. Ray, Jaqueline Bourgeois and Rosanna Weksberg

      Article first published online: 13 NOV 2007 | DOI: 10.1002/ajmg.a.32030

  15. Research Reviews

    1. Top of page
    2. Introduction
    3. Research Articles
    4. Research Reviews
    5. Commentary
    6. Research Reviews
    7. Genetic Drift
    8. Research Reviews
    9. Research Articles
    10. Clinical Reports
    11. Research Articles
    12. Clinical Reports
    13. Research Articles
    14. Correspondence
    15. Research Articles
    16. Research Reviews
    17. Research Letters
    18. Research Articles
    19. Clinical Reports
    20. Research Reviews
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    24. Clinical Reports
    25. Research Reviews
    26. Research Articles
    27. New Syndrome
    28. Research Letters
    29. Clinical Reports
    30. Research Articles
    31. Clinical Reports
    32. Research Articles
    33. Clinical Reports
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    35. Research Reviews
    36. Clinical Reports
    1. Obesity: Genetic, molecular, and environmental aspects (pages 3016–3034)

      Lewis A. Barness, John M. Opitz and Enid Gilbert-Barness

      Article first published online: 14 NOV 2007 | DOI: 10.1002/ajmg.a.32035

  16. Research Letters

    1. Top of page
    2. Introduction
    3. Research Articles
    4. Research Reviews
    5. Commentary
    6. Research Reviews
    7. Genetic Drift
    8. Research Reviews
    9. Research Articles
    10. Clinical Reports
    11. Research Articles
    12. Clinical Reports
    13. Research Articles
    14. Correspondence
    15. Research Articles
    16. Research Reviews
    17. Research Letters
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    19. Clinical Reports
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    25. Research Reviews
    26. Research Articles
    27. New Syndrome
    28. Research Letters
    29. Clinical Reports
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    35. Research Reviews
    36. Clinical Reports
    1. Evidence that macrocephaly and obesity may be dependent traits (pages 3035–3037)

      Helga Toriello, Minta Mathew and Vivian Valdmanis

      Article first published online: 13 NOV 2007 | DOI: 10.1002/ajmg.a.32038

  17. Research Articles

    1. Top of page
    2. Introduction
    3. Research Articles
    4. Research Reviews
    5. Commentary
    6. Research Reviews
    7. Genetic Drift
    8. Research Reviews
    9. Research Articles
    10. Clinical Reports
    11. Research Articles
    12. Clinical Reports
    13. Research Articles
    14. Correspondence
    15. Research Articles
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    17. Research Letters
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    19. Clinical Reports
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    27. New Syndrome
    28. Research Letters
    29. Clinical Reports
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    33. Clinical Reports
    34. Research Articles
    35. Research Reviews
    36. Clinical Reports
  18. Clinical Reports

    1. Top of page
    2. Introduction
    3. Research Articles
    4. Research Reviews
    5. Commentary
    6. Research Reviews
    7. Genetic Drift
    8. Research Reviews
    9. Research Articles
    10. Clinical Reports
    11. Research Articles
    12. Clinical Reports
    13. Research Articles
    14. Correspondence
    15. Research Articles
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    27. New Syndrome
    28. Research Letters
    29. Clinical Reports
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    35. Research Reviews
    36. Clinical Reports
  19. Research Reviews

    1. Top of page
    2. Introduction
    3. Research Articles
    4. Research Reviews
    5. Commentary
    6. Research Reviews
    7. Genetic Drift
    8. Research Reviews
    9. Research Articles
    10. Clinical Reports
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    12. Clinical Reports
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    14. Correspondence
    15. Research Articles
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    17. Research Letters
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    27. New Syndrome
    28. Research Letters
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    36. Clinical Reports
    1. Genetics of sexual development: A new paradigm (pages 3054–3068)

      Stan R. Blecher and Robert P. Erickson

      Article first published online: 13 NOV 2007 | DOI: 10.1002/ajmg.a.32037

  20. Research Articles

    1. Top of page
    2. Introduction
    3. Research Articles
    4. Research Reviews
    5. Commentary
    6. Research Reviews
    7. Genetic Drift
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    10. Clinical Reports
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    14. Correspondence
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    27. New Syndrome
    28. Research Letters
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    36. Clinical Reports
  21. Research Reviews

    1. Top of page
    2. Introduction
    3. Research Articles
    4. Research Reviews
    5. Commentary
    6. Research Reviews
    7. Genetic Drift
    8. Research Reviews
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    10. Clinical Reports
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    14. Correspondence
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    27. New Syndrome
    28. Research Letters
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    36. Clinical Reports
    1. Embryogenesis of holoprosencephaly (pages 3079–3087)

      Kohei Shiota, Shigehito Yamada, Munekazu Komada and Makoto Ishibashi

      Article first published online: 26 OCT 2007 | DOI: 10.1002/ajmg.a.32020

  22. Research Articles

    1. Top of page
    2. Introduction
    3. Research Articles
    4. Research Reviews
    5. Commentary
    6. Research Reviews
    7. Genetic Drift
    8. Research Reviews
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    10. Clinical Reports
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    14. Correspondence
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    17. Research Letters
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    27. New Syndrome
    28. Research Letters
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    35. Research Reviews
    36. Clinical Reports
  23. Clinical Reports

    1. Top of page
    2. Introduction
    3. Research Articles
    4. Research Reviews
    5. Commentary
    6. Research Reviews
    7. Genetic Drift
    8. Research Reviews
    9. Research Articles
    10. Clinical Reports
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    12. Clinical Reports
    13. Research Articles
    14. Correspondence
    15. Research Articles
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    17. Research Letters
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    27. New Syndrome
    28. Research Letters
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    36. Clinical Reports
  24. Research Reviews

    1. Top of page
    2. Introduction
    3. Research Articles
    4. Research Reviews
    5. Commentary
    6. Research Reviews
    7. Genetic Drift
    8. Research Reviews
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    10. Clinical Reports
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    14. Correspondence
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    27. New Syndrome
    28. Research Letters
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    1. A study of 534 fetal pathology cases from prenatal diagnosis referrals analyzed from 1989 through 2000 (pages 3107–3120)

      Anna Laury, Pedro A. Sanchez-Lara, Samuel Pepkowitz and John M. Graham Jr.

      Article first published online: 14 NOV 2007 | DOI: 10.1002/ajmg.a.32094

  25. Research Articles

    1. Top of page
    2. Introduction
    3. Research Articles
    4. Research Reviews
    5. Commentary
    6. Research Reviews
    7. Genetic Drift
    8. Research Reviews
    9. Research Articles
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    14. Correspondence
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    1. Visualization of human prenatal development by magnetic resonance imaging (MRI) (pages 3121–3126)

      Kohei Shiota, Shigehito Yamada, Tomoko Nakatsu-Komatsu, Chigako Uwabe, Katsumi Kose, Yoshimasa Matsuda, Tomoyuki Haishi, Shinobu Mizuta and Tetsuya Matsuda

      Article first published online: 26 OCT 2007 | DOI: 10.1002/ajmg.a.31994

  26. New Syndrome

    1. Top of page
    2. Introduction
    3. Research Articles
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      A newly recognized syndrome of Marfanoid habitus; long face; hypotelorism; long, thin nose; long, thin hands and feet; and a specific pattern of language and learning disabilities (pages 3137–3139)

      Célia M. Giacheti, Sthella Zanchetta, Elizandra Maranhe, Tatiana V. Cassab, Dagma V. Abramides, Deise H. Souza, Luciana P.M. De-Vitto and Antonio Richieri-Costa

      Article first published online: 28 SEP 2007 | DOI: 10.1002/ajmg.a.32024

  27. Research Letters

    1. Top of page
    2. Introduction
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    4. Research Reviews
    5. Commentary
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    7. Genetic Drift
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  28. Clinical Reports

    1. Top of page
    2. Introduction
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    36. Clinical Reports
    1. Acanthosis nigricans in a child with mild osteochondrodysplasia and K650Q mutation in the FGFR3 gene (pages 3144–3149)

      Jules G. Leroy, Lieve Nuytinck, Jo Lambert, Jean-Marie Naeyaert and Geert R. Mortier

      Article first published online: 13 NOV 2007 | DOI: 10.1002/ajmg.a.31966

  29. Research Articles

    1. Top of page
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    36. Clinical Reports
    1. Nonsense-mediated decay and the molecular pathogenesis of mutations in SALL1 and GLI3 (pages 3150–3160)

      Dominic Furniss, Paul Critchley, Henk Giele and Andrew O.M. Wilkie

      Article first published online: 14 NOV 2007 | DOI: 10.1002/ajmg.a.32097

    2. Molecular characterization of HOXA13 polyalanine expansion proteins in hand–foot–genital syndrome (pages 3161–3168)

      Boris Utsch, Colleen D. McCabe, Kenneth Galbraith, Ricardo Gonzalez, Mark Born, Jörg Dötsch, Michael Ludwig, Heiko Reutter and Jeffrey W. Innis

      Article first published online: 12 OCT 2007 | DOI: 10.1002/ajmg.a.31967

  30. Clinical Reports

    1. Top of page
    2. Introduction
    3. Research Articles
    4. Research Reviews
    5. Commentary
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    14. Correspondence
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    36. Clinical Reports
    1. Al-Awadi/Raas-Rothschild syndrome: Two new cases and review (pages 3169–3174)

      Fortunato Lonardo, Giovanna Sabba, Daniela Varela Luquetti, Matteo Della Monica and Gioacchino Scarano

      Article first published online: 12 APR 2007 | DOI: 10.1002/ajmg.a.31712

  31. Research Articles

    1. Top of page
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    36. Clinical Reports
    1. Longitudinal assessment of cognitive characteristics in Costello syndrome (pages 3185–3193)

      Marni E. Axelrad, Linda Nicholson, Deborah L. Stabley, Katia Sol-Church and Karen W. Gripp

      Article first published online: 26 OCT 2007 | DOI: 10.1002/ajmg.a.31968

    2. Fraser syndrome: A clinical study of 59 cases and evaluation of diagnostic criteria (pages 3194–3203)

      Mieke M. van Haelst, Peter J. Scambler and Raoul C.M. Hennekam

      Article first published online: 14 NOV 2007 | DOI: 10.1002/ajmg.a.31951

    3. Muenke syndrome (FGFR3-related craniosynostosis): Expansion of the phenotype and review of the literature (pages 3204–3215)

      Emily S. Doherty, Felicitas Lacbawan, Donald W. Hadley, Carmen Brewer, Christopher Zalewski, H. Jeff Kim, Beth Solomon, Kenneth Rosenbaum, Demetrio L. Domingo, Thomas C. Hart, Brian P. Brooks, LaDonna Immken, R. Brian Lowry, Virginia Kimonis, Alan L. Shanske, Fernanda Sarquis Jehee, Maria Rita Passos Bueno, Carol Knightly, Donna McDonald-McGinn, Elaine H. Zackai and Maximilian Muenke

      Article first published online: 14 NOV 2007 | DOI: 10.1002/ajmg.a.32078

    4. Regional analysis on the occurrence of oral clefts in South America (pages 3216–3227)

      F.A. Poletta, E.E. Castilla, I.M. Orioli and J.S. Lopez-Camelo

      Article first published online: 13 NOV 2007 | DOI: 10.1002/ajmg.a.32076

    5. The face of Joubert syndrome: A study of dysmorphology and anthropometry (pages 3235–3242)

      Stephen R. Braddock, Kimberly M. Henley and Bernard L. Maria

      Article first published online: 14 NOV 2007 | DOI: 10.1002/ajmg.a.32099

    6. The morphogenesis of wormian bones: A study of craniosynostosis and purposeful cranial deformation (pages 3243–3251)

      Pedro A. Sanchez-Lara, John M. Graham Jr, Anne V. Hing, John Lee and Michael Cunningham

      Article first published online: 14 NOV 2007 | DOI: 10.1002/ajmg.a.32073

    7. Cerebro-oculo-nasal syndrome: 13 new Brazilian cases (pages 3252–3266)

      Maria Leine Guion-Almeida, Roseli Maria Zechi-Ceide and Antonio Richieri-Costa

      Article first published online: 5 NOV 2007 | DOI: 10.1002/ajmg.a.32090

    8. X-chromosome inactivation patterns in monozygotic twins and sib pairs discordant for nonsyndromic cleft lip and/or palate (pages 3267–3272)

      Jane W. Kimani, Min Shi, Sandra Daack-Hirsch, Kaare Christensen, Danilo Moretti-Ferreira, Mary L. Marazita, L. Leigh Field, John W. Canady and Jeffrey C. Murray

      Article first published online: 14 NOV 2007 | DOI: 10.1002/ajmg.a.32098

  32. Clinical Reports

    1. Top of page
    2. Introduction
    3. Research Articles
    4. Research Reviews
    5. Commentary
    6. Research Reviews
    7. Genetic Drift
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    36. Clinical Reports
    1. Pai syndrome: Report of seven South American patients (pages 3273–3279)

      Maria Leine Guion-Almeida, Cecília Mellado, Constanza Beltrán and A. Richieri-Costa

      Article first published online: 28 SEP 2007 | DOI: 10.1002/ajmg.a.31962

    2. Raine syndrome: A rare lethal osteosclerotic bone dysplasia. Prenatal diagnosis, autopsy, and neuropathological findings (pages 3280–3285)

      David Chitayat, Patrick Shannon, Sarah Keating, Ants Toi, Susan Blaser, Tami Friedberg, Andrea Superti-Furga, Karen Chong and Sheila Unger

      Article first published online: 13 NOV 2007 | DOI: 10.1002/ajmg.a.32022

    3. Two siblings with an unusual nasal malformation: Further instances of craniorhiny? (pages 3290–3294)

      Melissa M. Lees, Loshan Kangesu, Per Hall and Raoul C.M. Hennekam

      Article first published online: 26 OCT 2007 | DOI: 10.1002/ajmg.a.32026

    4. Occipital atretic cephalocele, striking facial anomalies, and large feet in three siblings of a consanguineous union (pages 3295–3301)

      Roseli Maria Zechi-Ceide, Maria Leine Guion-Almeida, Sthella Zanchetta and Antonio Richieri-Costa

      Article first published online: 28 SEP 2007 | DOI: 10.1002/ajmg.a.32019

  33. Research Articles

    1. Top of page
    2. Introduction
    3. Research Articles
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  34. Research Reviews

    1. Top of page
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    36. Clinical Reports
    1. Oral–facial–digital syndromes: Review and diagnostic guidelines (pages 3314–3323)

      Fiorella Gurrieri, Brunella Franco, Helga Toriello and Giovanni Neri

      Article first published online: 26 OCT 2007 | DOI: 10.1002/ajmg.a.32032

  35. Clinical Reports

    1. Top of page
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