Search Results

Mutation of GJB2 in a Chinese patient with keratitis-ichthyosis-deafness syndrome and brain malformation

Authors: Zhang, X.-B.; Wei, S.-C.; Li, C.-X.; Xu, X.; He, Y.-Q.; Luo, Q.; Li, J.; Wang, Y.-F.

Source: Clinical & Experimental Dermatology, Volume 34, Number 3, April 2009 , pp. 309-313(5)

Publisher: Blackwell Publishing

Down syndrome with cerebral arteriovenous malformation

Authors: Basu, S.; Pooniya, V.; Kumar, A.; Das, B.K.

Source: Annals of Tropical Paediatrics: International Child Health, Volume 29, Number 1, March 2009 , pp. 61-65(5)

Publisher: Maney Publishing

Septo-optic Dysplasia (De Morsier Syndrome): Case Report and Discussion

Authors: Lodge, Virginia G.; Mason, Gerald C.; Weston, Michael J.

Source: Ultrasound, Volume 16, Number 3, August 2008 , pp. 169-171(3)

Publisher: Maney Publishing

Rhombencephalosynapsis: prenatal imaging and autopsy findings

Authors: McAuliffe, F.; Chitayat, D.; Halliday, W.; Keating, S.; Shah, V.; Fink, M.; Nevo, O.; Ryan, G.; Shannon, P.; Blaser, S.

Source: Ultrasound in Obstetrics and Gynecology, Volume 31, Number 5, May 2008 , pp. 542-548(7)

Publisher: John Wiley & Sons, Ltd.

Nonfunctioning endocrine tumor arising from intracranial ectopic pancreas associated with congenital brain malformation

Authors: Tsugu, Hitoshi; Oshiro, Shinya; Kawaguchi, Hiroshi; Fukushima, Takeo; Nabeshima, Kazuki; Matsumoto, Shinji; Nomura, Yuko; Yasumoto, Sawa; Takano, Koichi; Utsunomiya, Hidetsuna

Source: Child's Nervous System, Volume 23, Number 11, November 2007 , pp. 1337-1340(4)

Publisher: Springer

Dandy-Walker syndrome and chromosomal abnormalities

Authors: Imataka, George; Yamanouchi, Hideo; Arisaka, Osamu

Source: Congenital Anomalies, Volume 47, Number 4, December 2007 , pp. 113-118(6)

Publisher: Blackwell Publishing

Alobar holoprosencephaly, mobile proboscis and trisomy 13 in a fetus with maternal gestational diabetes mellitus: a 2D ultrasound diagnosis and review of the literature

Authors: Capobianco, Giampiero; Cherchi, Pier; Ambrosini, Guido; Cosmi, Erich; Andrisani, Alessandra; Dessole, Salvatore

Source: Archives of Gynecology and Obstetrics, Volume 275, Number 5, May 2007 , pp. 385-387(3)

Publisher: Springer

Pediatric arteriovenous malformation: University of Toronto experience using stereotactic radiosurgery

Authors: Zadeh, Gelareh; Andrade-Souza, Yuri; Tsao, May; Scora, Daryl; Armstrong, Derek; Humphreys, Robin; Rutka, James; Drake, James; Dirks, Peter; Schwartz, Michael

Source: Child's Nervous System, Volume 23, Number 2, February 2007 , pp. 195-199(5)

Publisher: Springer

Intragenic deletion of Tgif causes defectsin brain development

Authors: Kuang, Chenzhong; Xiao, Yan; Yang, Ling; Chen, Qian; Wang, Zhenzhen; Conway, Simon J.; Chen, Yan

Source: Human Molecular Genetics, Volume 15, Number 24, 15 December 2006 , pp. 3508-3519(12)

Publisher: Oxford University Press

Inborn error of amino acid synthesis: Human glutamine synthetase deficiency

Authors: Häberle, Johannes; Görg, Boris; Toutain, Annick; Rutsch, Frank; Benoist, Jean-François; Gelot, Antoinette; Suc, Annie-Laure; Koch, Hans; Schliess, Freimut; Häussinger, Dieter

Source: Journal of Inherited Metabolic Disease, Volume 29, Numbers 2-3, April 2006 , pp. 352-358(7)

Publisher: Springer

Diagnosis of midline anomalies of the fetal brain with the three-dimensional median view

Authors: Pilu, G.; Segata, M.; Ghi, T.; Carletti, A.; Perolo, A.; Santini, D.; Bonasoni, P.; Tani, G.; Rizzo, N.

Source: Ultrasound in Obstetrics and Gynecology, Volume 27, Number 5, May 2006 , pp. 522-529(8)

Publisher: John Wiley & Sons, Ltd.

Acquired port-wine stain related to acoustic neuroma

Authors: Kulac, M.; Karaca, S.; Acar, M.; Albayrak, R.; Songur, A.

Source: Clinical & Experimental Dermatology, Volume 31, Number 1, January 2006 , pp. 30-32(3)

Publisher: Blackwell Publishing

Leucodysplasia, microcephaly, cerebral malformation (LMC): a novel recessive disorder linked to 2p16

Authors: Chandler, K. E.; Del Rio, A.; Rakshi, K.; Springell, K.; Williams, D. K.; Stoodley, N.; Woods, C. G.; Pilz, D. T.

Source: Brain, Volume 129, Number 1, January 2006 , pp. 272-277(6)

Publisher: Oxford University Press

Lack of orientation due to a congenital brain malformation: A case study

Authors: Iaria, Giuseppe; Incoccia, Chiara; Piccardi, Laura; Nico, Daniele; Sabatini, Umberto; Guariglia, Cecilia

Source: Neurocase, Volume 11, Number 6, Number 6/December 2005 , pp. 463-474(12)

Publisher: Psychology Press, part of the Taylor & Francis Group

Periventricular nodular heterotopia with overlying polymicrogyria

Authors: Wieck, Gretchen; Leventer, Richard J.; Squier, Waney M.; Jansen, An; Andermann, Eva; Dubeau, Francois; Ramazzotti, Anna; Guerrini, Renzo; Dobyns, William B.

Source: Brain, Volume 128, Number 12, December 2005 , pp. 2811-2821(11)

Publisher: Oxford University Press

Glyc-O-genetics of Walker–Warburg syndrome

Authors: van Reeuwijk, J; Brunner, HG; van Bokhoven, H

Source: Clinical Genetics, Volume 67, Number 4, April 2005 , pp. 281-289(9)

Publisher: Blackwell Publishing

Prenatal diagnosis of absence of the septum pellucidum associated with septo-optic dysplasia

Authors: C. Lepinard; R. Coutant; F. Boussion; D. Loisel; B. Delorme; F. Biquard; D. Bonneau; A. Guichet; P. Descamps

Source: Ultrasound in Obstetrics and Gynecology, Volume 25, Number 1, January 2005 , pp. 73-75(3)

Publisher: John Wiley & Sons, Ltd.

Ultrasonographic Appearance of Dandy Walker-Like Syndrome in a Boston Terrier

Authors: Noureddine, Clarissa; Harder, Rebecca; Olby, Natasha J.; Spaulding, Kathy; Brown, Talmage

Source: Veterinary Radiology & Ultrasound, Volume 45, Number 4, July 2004 , pp. 336-339(4)

Publisher: Blackwell Publishing

Regional Ependymal Upregulation of Vimentin in Chiari II Malformation, Aqueductal Stenosis, and Hydromyelia

Author: Sarnat, Harvey B.

Source: Pediatric and Developmental Pathology, Volume 7, Number 1, February 2004 , pp. 48-60(13)

Publisher: Springer

Displacement of central sulcus in cerebral arteriovenous malformation situated in the peri-motor cortex as assessed by magnetoencephalographic study

Authors: Shimamura, N.; Ohkuma, H.; Ogane, K.; Manabe, H.; Yagihashi, A.; Kikkawa, T.; Suzuki, S.

Source: Acta Neurochirurgica, Volume 146, Number 4, April 2004 , pp. 363-368(6)

Publisher: Springer