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1
17p13.1 microdeletion involving the TP53 gene in a boy presenting with mental retardation but no tumor
17p13.1 microdeletion involving the TP53 gene in a boy presenting with mental retardation but no tumor
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17p13.1 microdeletion involving the TP53 gene in a boy presenting with mental retardation but no tumor

Schluth-Bolard, Caroline ; Sanlaville, Damien ; Labalme, Audrey ; Till, Marianne ; Morin, Isabelle ; Touraine, Renaud ; Edery, Patrick

American Journal of Medical Genetics Part A, 2010, Vol.152A (5), p.1278-1282

Hoboken: Wiley Subscription Services, Inc., A Wiley Company

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2
17p13.1 microduplication in a boy with Silver-Russell syndrome features and intellectual disability
17p13.1 microduplication in a boy with Silver-Russell syndrome features and intellectual disability
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17p13.1 microduplication in a boy with Silver-Russell syndrome features and intellectual disability

Coutton, Charles ; Devillard, Francoise ; Vieville, Gaëlle ; Amblard, Florence ; Lopez, Gipsy ; Jouk, Pierre-Simon ; Satre, Véronique

American Journal of Medical Genetics Part A, 2012, Vol.158A (10), p.2564-2570

Hoboken: Wiley Subscription Services, Inc., A Wiley Company

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3
2q23 de novo microdeletion involving the MBD5 gene in a patient with developmental delay, postnatal microcephaly and distinct facial features
2q23 de novo microdeletion involving the MBD5 gene in a patient with developmental delay, postnatal microcephaly and distinct facial features
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2q23 de novo microdeletion involving the MBD5 gene in a patient with developmental delay, postnatal microcephaly and distinct facial features

Chung, Brian H.Y. ; Stavropoulos, James ; Marshall, Christian R. ; Weksberg, Rosanna ; Scherer, Stephen W. ; Yoon, Grace

American Journal of Medical Genetics Part A, 2011, Vol.155A (2), p.424-429

Hoboken: Wiley Subscription Services, Inc., A Wiley Company

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4
Abdominal apoplexy: a potentially fatal enigma
Abdominal apoplexy: a potentially fatal enigma
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Abdominal apoplexy: a potentially fatal enigma

Tan, Y. M. ; Tan, Benita K. T. ; Chow, Pierce K. H.

ANZ Journal of Surgery, 2003, Vol.73 (6), p.461-462

Oxford, UK: Blackwell Science Pty

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5
Aberrant methylation of H19-DMR acquired after implantation was dissimilar in soma versus placenta of patients with Beckwith-Wiedemann syndrome
Aberrant methylation of H19-DMR acquired after implantation was dissimilar in soma versus placenta of patients with Beckwith-Wiedemann syndrome
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Aberrant methylation of H19-DMR acquired after implantation was dissimilar in soma versus placenta of patients with Beckwith-Wiedemann syndrome

Higashimoto, Ken ; Nakabayashi, Kazuhiko ; Yatsuki, Hitomi ; Yoshinaga, Hokuto ; Jozaki, Kosuke ; Okada, Junichiro ; Watanabe, Yoriko ; Aoki, Aiko ; Shiozaki, Arihiro ; Saito, Shigeru ; Koide, Kayoko ; Mukai, Tsunehiro ; Hata, Kenichiro ; Soejima, Hidenobu

American Journal of Medical Genetics Part A, 2012, Vol.158A (7), p.1670-1675

Hoboken: Wiley Subscription Services, Inc., A Wiley Company

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6
Absence of PITX2, BARX1, and FOXC1 mutations in De Hauwere syndrome (Axenfeld-Rieger anomaly, hydrocephaly, hearing loss): A 25-year follow up
Absence of PITX2, BARX1, and FOXC1 mutations in De Hauwere syndrome (Axenfeld-Rieger anomaly, hydrocephaly, hearing loss): A 25-year follow up
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Absence of PITX2, BARX1, and FOXC1 mutations in De Hauwere syndrome (Axenfeld-Rieger anomaly, hydrocephaly, hearing loss): A 25-year follow up

Lowry, R. Brian ; Gould, Douglas B. ; Walter, Michael A. ; Savage, Paul R.

American Journal of Medical Genetics Part A, 2007, Vol.143A (11), p.1227-1230

Hoboken: Wiley Subscription Services, Inc., A Wiley Company

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7
Acute Mental Status Changes and Hyperchloremic Metabolic Acidosis with Long-Term Topiramate Therapy
Acute Mental Status Changes and Hyperchloremic Metabolic Acidosis with Long-Term Topiramate Therapy
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Acute Mental Status Changes and Hyperchloremic Metabolic Acidosis with Long-Term Topiramate Therapy

Stowe, Cindy D. ; Bolliger, Temple ; James, Laura P. ; Haley, Tonya M. ; Griebel, May L. ; Farrar III, Henry C.

Pharmacotherapy: The Journal of Human Pharmacology and Drug Therapy, 2000, Vol.20 (1), p.105-109

Oxford, UK: Blackwell Publishing Ltd

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8
Acute promyelocytic leukaemia presenting as postpartum haemorrhage
Acute promyelocytic leukaemia presenting as postpartum haemorrhage
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Acute promyelocytic leukaemia presenting as postpartum haemorrhage

Murrin, R. J. A. ; Adjetey, V. ; Harrison, P. ; Warwick, A.

Clinical & Laboratory Haematology, 2004, Vol.26 (3), p.233-237

Oxford, UK: Blackwell Science Ltd

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9
Alveolar soft-part sarcoma of the retroperitoneum
Alveolar soft-part sarcoma of the retroperitoneum
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Alveolar soft-part sarcoma of the retroperitoneum

ISHIKAWA, MASAKUNI ; ISHIZUKA, OSAMU ; NAKAYAMA, TSUYOSHI ; KOBAYASHI, SHINYA ; IGAWA, YASUHIKO ; NISHIZAWA, OSAMU ; SUGIMOTO, KOUJI ; YAMASHITA, TOSHIO ; MATSUSHITA, TAKAAKI

International Journal of Urology, 2006, Vol.13 (10), p.1355-1357

Melbourne, Australia: Blackwell Publishing Asia

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10
An Alu retrotransposition-mediated deletion of CHD7 in a patient with CHARGE syndrome
An Alu retrotransposition-mediated deletion of CHD7 in a patient with CHARGE syndrome
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An Alu retrotransposition-mediated deletion of CHD7 in a patient with CHARGE syndrome

Udaka, Toru ; Okamoto, Nobuhiko ; Aramaki, Michihiko ; Torii, Chiharu ; Kosaki, Rika ; Hosokai, Noboru ; Hayakawa, Toshiyuki ; Takahata, Naoyuki ; Takahashi, Takao ; Kosaki, Kenjiro

American Journal of Medical Genetics Part A, 2007, Vol.143A (7), p.721-726

Hoboken: Wiley Subscription Services, Inc., A Wiley Company

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