Works matching DE "HOLOPROSENCEPHALY"

Results: 257

Variant course of bilateral anterior cerebral artery in semilobar holoprosencephaly.

Published in:

Surgical & Radiologic Anatomy, 2015, v. 37, n. 10, p. 1195, doi. 10.1007/s00276-015-1498-4

By:

Pendharkar, Hima;
Venkateshappa, Bhaskar;
Prasad, Chandrajit

Publication type:

Article

Cornelia de Lange Syndrome with Hypernatremia: Two Case Reports.

Published in:

European Archives of Medical Research, 2020, v. 36, n. 3, p. 218, doi. 10.4274/eamr.galenos.2019.67689

By:

Kurul, Ece;
Sazak, Soner;
Bektaşoğlu, İbrahim;
Dursun, Hasan

Publication type:

Article

Ocular anomalies and holoprosencephaly in a lamb.

Published in:

Veterinary Ophthalmology, 2008, v. 11, n. 1, p. 30, doi. 10.1111/j.1463-5224.2007.00597.x

By:

Zeiss, Caroline J.;
Zarfoss, Mitzi K.;
Johnson, Elizabeth E.;
Dubielzig, Richard R.

Publication type:

Article

Semilobar holoprosencephaly with a unique traversed sylvian sulcus.

Published in:

2011

By:

Itoh, K.;
Ogi, H.;
Yaoi, T.;
Yoshifuji, K.;
Pooh, R.;
Yamasaki, M.;
Fushiki, S.

Publication type:

Other

Wide phenotypic variability in families with holoprosencephaly and a sonic hedgehog mutation.

Published in:

2004

By:

Hehr, Ute;
Gross, Claudia;
Diebold, Uta;
Wahl, Dagmar;
Beudt, Ulrike;
Heidemann, Peter;
Hehr, Andreas;
Mueller, Dietmar

Publication type:

journal article

Ethmocephaly with Amniotic Band Syndrome.

Published in:

2012

By:

Das, Gobinda;
Gayen, Sibnath;
Bandyopadhyay, Sabyasachi;
Das, Debabrata

Publication type:

Case Study

The unfolding clinical spectrum of holoprosencephaly due to mutations in SHH, ZIC2, SIX3 and TGIF genes.

Published in:

European Journal of Human Genetics, 2010, v. 18, n. 9, p. 999, doi. 10.1038/ejhg.2010.70

By:

Paulussen, Aimée D. C.;
Schrander-Stumpel, Constance T.;
Tserpelis, Demis C. J.;
Spee, Matteus K. M.;
Stegmann, Alexander P. A.;
Mancini, Grazia M.;
Brooks, Alice S.;
Collée, Margriet;
Maat-Kievit, Anneke;
Simon, Marleen E. H.;
van Bever, Yolande;
Stolte-Dijkstra, Irene;
Kerstjens-Frederikse, Wilhelmina S.;
Herkert, Johanna C.;
van Essen, Anthonie J.;
Lichtenbelt, Klaske D.;
van Haeringen, Arie;
Kwee, Mei L.;
Lachmeijer, Augusta M. A.;
Tan-Sindhunata, Gita M. B.

Publication type:

Article

A new mutation in the six-domain of SIX3 gene causes holoprosencephaly.

Published in:

European Journal of Human Genetics, 2000, v. 8, n. 10, p. 797, doi. 10.1038/sj.ejhg.5200540

By:

Pasquier, L;
Dubourg, C;
Blayau, M;
Lazaro, L;
Le Marec, B;
David, V;
Odent, S

Publication type:

Article

Genetically induced abnormal cranial development in human trisomy 18 with holoprosencephaly: comparisons with the normal tempo of osteogenic-neural development.

Published in:

Journal of Anatomy, 2015, v. 227, n. 1, p. 21, doi. 10.1111/joa.12326

By:

Reid, Shaina N.;
Ziermann, Janine M.;
Gondré‐Lewis, Marjorie C.

Publication type:

Article

Cyclopic Monster in a Sow.

Published in:

Intas Polivet, 2012, v. 13, n. 1, p. 159

By:

Autade, D. P.;
Markandeya, N. M.;
Deshmukh, N. D.

Publication type:

Article

Holoprosencephaly: Two Case Reports.

Published in:

Romanian Journal of Medical Practice, 2012, v. 7, n. 1, p. 58

By:

Poenaru, Mircea O.;
Vilcea, Ionut D.;
Marin, Arabela

Publication type:

Article

Maturation and Dysgenesis of the Human Olfactory Bulb.

Published in:

Brain Pathology, 2016, v. 26, n. 3, p. 301, doi. 10.1111/bpa.12275

By:

Sarnat, Harvey B.;
Yu, Weiming

Publication type:

Article

Regulation of a remote Shh forebrain enhancer by the Six3 homeoprotein.

Published in:

Nature Genetics, 2008, v. 40, n. 11, p. 1348, doi. 10.1038/ng.230

By:

Jeong, Yongsu;
Leskow, Federico Coluccio;
El-Jaick, Kenia;
Roessler, Erich;
Muenke, Maximilian;
Yocum, Anastasia;
Dubourg, Christele;
Li, Xue;
Geng, Xin;
Oliver, Guillermo;
Epstein, Douglas J

Publication type:

Article

Mutations in TGIF cause holoprosencephaly and link NODAL signalling to human neural axis determination.

Published in:

Nature Genetics, 2000, v. 25, n. 2, p. 205, doi. 10.1038/76074

By:

Gripp, Karen W.;
Wotton, David;
Edwards, Michael C.;
Roessler, Erich;
Ades, Lesley;
Meinecke, Peter;
Richieri-Costa, Antonio;
Zackai, Elaine H.;
Massagué, Joan;
Muenke, Maximilian;
Elledge, Stephen J.

Publication type:

Article

Mutations in the homeodomain of the human SIX3 gene cause holoprosencephaly.

Published in:

Nature Genetics, 1999, v. 22, n. 2, p. 196, doi. 10.1038/9718

By:

Wallis, Deeann E.;
Roessler, Erich;
Hehr, Ute;
Nanni, Luisa;
Wiltshire, Tim;
Richieri-Costa, Antonio;
Gillessen-Kaesbach, Gabriele;
Zackai, Elaine H.;
Rommens, Johanna;
Muenke, Maximilian

Publication type:

Article

Holoprosencephaly due to mutations in ZIC2, a homologue of Drosophila odd-paired.

Published in:

Nature Genetics, 1998, v. 20, n. 2, p. 180, doi. 10.1038/2484

By:

Brown, Stephen A.;
Warburton, Dorothy;
Brown, Lucia Y.;
Yu, Chih-yu;
Roeder, Elizabeth R.;
Stengel-Rutkowski, Sabine;
Hennekam, Raoul C.M.;
Muenke, Maximilian

Publication type:

Article

Congenital partial arhinia: a rare malformation of the nose coexisting with holoprosencephaly.

Published in:

Turkish Journal of Pediatrics, 2012, v. 54, n. 4, p. 440

By:

Takçı, Şahin;
Korkmaz, Ayşe;
Şimşek-Kiper, Pelin Özlem;
Ütine, Gülen Eda;
Boduroğlu, Koray;
Yurdakök, Murat

Publication type:

Article

Ménétrier's disease and severe gastric ulcers associated with cytomegalovirus infection in an immunocompetent child: a case report.

Published in:

Turkish Journal of Pediatrics, 2008, v. 50, n. 3, p. 291

By:

Canan, Oğuz;
Özçay, Figen;
Bilezikçi, Banu

Publication type:

Article

Pseudo-trisomy 13 in a fetus: further support for autosomal recessive inheritance.

Published in:

Turkish Journal of Pediatrics, 2008, v. 50, n. 3, p. 287

By:

Utine, G. Eda;
Alanay, Yasemin;
Aktaş, Dilek;
Talim, Beril;
Kale, Gülsev;
Tunçbilek, Ergül

Publication type:

Article

Use of 3D Multislide CT in the Study of a Fetus with Cyclopia.

Published in:

International Journal of Morphology, 2012, v. 30, n. 1, p. 88, doi. 10.4067/S0717-95022012000100015

By:

Pachajoa, Harry;
Vejarano, Luis Eduardo;
Isaza, Carolina

Publication type:

Article

Holoprosencephaly-Polydactyly (Pseudotrisomy 13) Syndrome: Case Report and Diagnostic Criteria.

Published in:

Fetal & Pediatric Pathology, 2012, v. 31, n. 5, p. 315, doi. 10.3109/15513815.2012.659390

By:

Sergi, Consolato;
Gekas, Jean;
Kamnasaran, Deepak

Publication type:

Article

UPPER LIMB AMELIA, FACIAL CLEFTS, HOLOPROSENCEPHALY, AND INTERRUPTED AORTIC ARCH.

Published in:

Fetal & Pediatric Pathology, 2007, v. 26, n. 4, p. 169, doi. 10.1080/15513810701696874

By:

Zimpfer, Annette;
Miny, Peter;
Dombrowski, Ulrike;
Tolnay, Markus;
Meyer, Peter;
Bruder, Elisabeth

Publication type:

Article

OTOCEPHALY: REPORT OF FIVE NEW CASES AND A LITERATURE REVIEW.

Published in:

Fetal & Pediatric Pathology, 2006, v. 25, n. 5, p. 277, doi. 10.1080/15513810601123417

By:

Faye-Petersen, Ona;
David, Elmer;
Rangwala, Nikita;
Seaman, James P.;
Hua, Zhonxue;
Heller, Debra S.

Publication type:

Article

Deletion 18p11.32p11.31 in a Child with Global Developmental Delay and Atypical, Drug-Resistant Absence Seizures.

Published in:

Cytogenetic & Genome Research, 2015, v. 146, n. 2, p. 115, doi. 10.1159/000438502

By:

Verrotti, alberto;
Palka, Chiara;
Prezioso, Giovanni;
alfonsi, Melissa;
Calabrese, Giuseppe;
Palka, Giandomenico;
Chiarelli, Francesco

Publication type:

Article

The genomic structure, chromosomal localization, and analysis of SIL as a candidate gene for holoprosencephaly.

Published in:

Cytogenetic & Genome Research, 2002, v. 97, n. 1/2, p. 62, doi. 10.1159/000064057

By:

Karkera;
Izraeli;
Roessler;
Dutra;
Kirsch;
Muenke

Publication type:

Article

Endocytic receptor LRP2/megalin-of holoprosencephaly and renal Fanconi syndrome.

Published in:

Pflügers Archiv: European Journal of Physiology, 2017, v. 469, n. 7/8, p. 907, doi. 10.1007/s00424-017-1992-0

By:

Willnow, Thomas;
Christ, Annabel

Publication type:

Article

Hand in glove: brain and skull in development and dysmorphogenesis.

Published in:

Acta Neuropathologica, 2013, v. 125, n. 4, p. 469, doi. 10.1007/s00401-013-1104-y

By:

Richtsmeier, Joan;
Flaherty, Kevin

Publication type:

Article

Neuropathological evaluation of the diencephalon, basal ganglia and upper brainstem in alobar holoprosencephaly.

Published in:

Acta Neuropathologica, 2004, v. 107, n. 3, p. 190, doi. 10.1007/s00401-003-0784-0

By:

Hayashi, Masaharu;
Araki, Satoshi;
Kumada, Satoko;
Itoh, Masahiro;
Morimatsu, Yoshio;
Matsuyama, Haruo

Publication type:

Article

Ectopic expression of telencephalin in brains with holoprosencephaly.

Published in:

Acta Neuropathologica, 2000, v. 100, n. 5, p. 506, doi. 10.1007/s004010000184

By:

Arii, N.;
Mizuguchi, Masashi;
Mori, Kensaku;
Takashima, Sachio

Publication type:

Article

The vesicular forebrain (pseudo-aprosencephaly): a missing link in the teratogenetic spectrum of the defective brain anlage and its discrimination from aprosencephaly.

Published in:

Acta Neuropathologica, 2000, v. 99, n. 3, p. 277, doi. 10.1007/PL00007438

By:

Sergi, C.;
Schmitt, H. P.

Publication type:

Article

Isolated Absence of Septum Pellucidum: Prenatal Diagnosis and Outcome.

Published in:

Fetal Diagnosis & Therapy, 2013, v. 33, n. 2, p. 130, doi. 10.1159/000338009

By:

García-Arreza, Aida;
García-Díaz, Lutgardo;
Fajardo, Manuel;
Carreto, Práxedes;
Antiñolo, Guillermo

Publication type:

Article

Discordant Semilobar Holoprosencephaly in Monozygotic Twins with de novo inv dup(15) Marker Chromosome and de novo Mutation on SHH Gene.

Published in:

Fetal Diagnosis & Therapy, 2007, v. 22, n. 5, p. 389, doi. 10.1159/000103302

By:

Hsiu-Huei Peng;
Pao-Lin Kuo;
An-Shine Chao;
Tzu-Hao Wang;
Yao-Lung Chang;
Yung-Kuei Soong;
Shuenn-Dyh Chang

Publication type:

Article

Pseudotrisomy 13: clinical findings and genetic implications.

Published in:

2005

By:

Schulz, Solveig;
Gerloff, Claudia;
Kalinski, Thomas;
Mawrin, Christian;
Kanakis, Dimitrios;
Haas, Dorothea;
Hahn, Heidi;
Wieacker, Peter

Publication type:

journal article

Prenatal Diagnosis, Phenotypicand Obstetric Charact eristics of Holoprosencephaly.

Published in:

Fetal Diagnosis & Therapy, 2005, v. 20, n. 3, p. 161, doi. 10.1159/000083897

By:

Joó, Gábor J.;
Beke, Artúr;
Papp, Csaba;
Tóth-Pál, Ernő;
Szigeti, Zsanett;
Bán, Zoltán;
Papp, Zoltán

Publication type:

Article

Epidemiology of holoprosencephaly in Hawaii, 1986-97.

Published in:

2000

By:

Forrester, Mathias B.;
Merz, Ruth D.;
Forrester, M B;
Merz, R D

Publication type:

journal article

Cyclopia and exadactyly: CT and MRI findings.

Published in:

Dentomaxillofacial Radiology, 1999, v. 28, n. 6, p. 372, doi. 10.1038/sj.dmfr.4600469

By:

Karantanas, A H;
Papanikolaou, N;
Danos, A;
Antonakopoulos, G

Publication type:

Article

Absence of the lateral and third ventricles associated with holoprosencephaly.

Published in:

Anatomy & Cell Biology, 2015, v. 48, n. 3, p. 222, doi. 10.5115/acb.2015.48.3.222

By:

Ciftcioglu, Engin;
Ozyurek, Hamit;
Nural, Mehmet Selim;
Kopuz, Cem;
Incesu, Lutfi;
Ogur, Gonul

Publication type:

Article

Midline and laterality defects: left and right meet in the middle.

Published in:

BioEssays, 2001, v. 23, n. 10, p. 888, doi. 10.1002/bies.1130

By:

Roessler, Erich;
Muenke, Maximilian

Publication type:

Article

The wide spectrum of ultrasound diagnosis of holoprosencephaly.

Published in:

2019

By:

Ionescu, Cringu Antoniu;
Vladareanu, Simona;
Tudorache, Stefania;
Ples, Liana;
Neacsu, Adrian;
Herghelegiu, Catalin Gabriel;
Dragan, Ioana;
Oprescu, Daniela-Nuti;
Navolan, Dan;
Herghelegiu, Catalin

Publication type:

journal article

Definition of Critical Periods for Hedgehog Pathway Antagonist-Induced Holoprosencephaly, Cleft Lip, and Cleft Palate.

Published in:

PLoS ONE, 2015, v. 10, n. 3, p. 1, doi. 10.1371/journal.pone.0120517

By:

Heyne, Galen W.;
Melberg, Cal G.;
Doroodchi, Padydeh;
Parins, Kia F.;
Kietzman, Henry W.;
Everson, Joshua L.;
Ansen-Wilson, Lydia J.;
Lipinski, Robert J.

Publication type:

Article

The Ubiquitin E3 Ligase NOSIP Modulates Protein Phosphatase 2A Activity in Craniofacial Development.

Published in:

PLoS ONE, 2014, v. 9, n. 12, p. 1, doi. 10.1371/journal.pone.0116150

By:

Hoffmeister, Meike;
Prelle, Carola;
Küchler, Philipp;
Kovacevic, Igor;
Moser, Markus;
Müller-Esterl, Werner;
Oess, Stefanie

Publication type:

Article

Rescue of Holoprosencephaly in Fetal Alcohol-Exposed <i>Cdon</i> Mutant Mice by Reduced Gene Dosage of <i>Ptch1</i>.

Published in:

PLoS ONE, 2013, v. 8, n. 11, p. 1, doi. 10.1371/journal.pone.0079269

By:

Hong, Mingi;
Krauss, Robert S.

Publication type:

Article

Unique Alterations of an Ultraconserved Non-Coding Element in the 3'UTR of ZIC2 in Holoprosencephaly.

Published in:

PLoS ONE, 2012, v. 7, n. 7, p. 1, doi. 10.1371/journal.pone.0039026

By:

Roessler, Erich;
Ping Hu;
Sung-Kook Hong;
Srivastava, Kshitij;
Carrington, Blake;
Sood, Raman;
Petrykowska, Hanna;
Elnitski, Laura;
Ribeiro, Lucilene A.;
Richieri-Costa, Antonio;
Feldman, Benjamin;
Odenwald, Ward F.;
Muenke, Maximilian

Publication type:

Article

Congenital holoprosencephaly with severe otocephaly in a rottweiler puppy.

Published in:

Veterinary Record: Journal of the British Veterinary Association, 2006, v. 158, n. 15, p. 518, doi. 10.1136/vr.158.15.518

By:

Martínez, J. S.;
Velázquez, I. R.;
Reyes, H.;
Fajardo, R.

Publication type:

Article

A mechanism for mutational inactivation of the homeodomain protein TGIF in holoprosencephaly.

Published in:

FASEB Journal, 2007, v. 21, n. 2, p. 488, doi. 10.1096/fj.06-6423com

By:

Ferrand, Nathalie;
Demange, Christine;
Prunier, Céline;
Su Ryeon Seo;
Atfi, Azeddine

Publication type:

Article

Sirenomelia: Case Reports and Current Concepts of Pathogenesis.

Published in:

Pediatric & Developmental Pathology, 2012, v. 15, n. 5, p. 403, doi. 10.2350/12-05-1199-CC.1

By:

PILLAY, MINNIE;
YESODHARAN, DHANYA;
LAKSHMI NARAYANAN, DHANYA;
JOJO, ANNIE;
LUIZ, NEWTON;
NAMPOOTHIRI, SHEELA

Publication type:

Article

Recurrent Johanson-Blizzard Syndrome in a Triplet Pregnancy Complicated by Urethral Obstruction Sequence: A Clinical, Molecular, and Immunohistochemical Approach.

Published in:

Pediatric & Developmental Pathology, 2012, v. 15, n. 1, p. 50, doi. 10.2350/11-04-1020-OA.1

By:

Schoner, Katharina;
Fritz, Barbara;
Huelskamp, Georg;
Louwen, Frank;
Zenker, Martin;
Moll, Roland;
Rehder, Helga

Publication type:

Article

An Acardiac Twin with Advanced Brain Development and a Minor Form of Holoprosencephaly and Intracerebral Retina-like Pigmented Tissue: A Case Report and Review of the Literature.

Published in:

Pediatric & Developmental Pathology, 2011, v. 14, n. 5, p. 411, doi. 10.2350/10-09-0916-CR.1

By:

Huss, Sebastian;
Fronhoffs, Florian;
Gembruch, Ulrich;
Loeffler, Karin;
Born, Mark;
Gessi, Marco;
Kuchelmeister, Klaus;
Müller, Annette M

Publication type:

Article

Two Cases of Agnathia (Otocephaly): With Review of the Role of Fibroblast Growth Factor(FGF8) and Bone Morphogenetic Protein (BMP4) in Patterning of the First Branchial Arch.

Published in:

Pediatric & Developmental Pathology, 2008, v. 11, n. 4, p. 321, doi. 10.2350/07-09-0351.1

By:

SCHMOTZER, CHRISTINE L.;
SHEHATA, BAHIG M.

Publication type:

Article

Holoprosencephaly: antenatal and postnatal diagnosis and outcome.

Published in:

Child's Nervous System, 2016, v. 32, n. 5, p. 801, doi. 10.1007/s00381-016-3015-4

By:

Kaliaperumal, Chandrasekaran;
Ndoro, Sam;
Mandiwanza, Tafadzwa;
Reidy, F.;
McAuliffe, F.;
Caird, John;
Crimmins, Darach

Publication type:

Article