Works matching DE "HOLOPROSENCEPHALY"

Results: 252

Malformaciones congénitas asociadas al uso de misoprostol: Reporte de dos casos.

Published in:

Revista Mexicana de Neurociencia, 2013, v. 14, n. 1, p. 50

By:

Sánchez-Rodríguez, Guillermina;
Luévanos-Gurrola, Karla;
Ramírez-Cázares, Ana Carolina;
Rodríguez-Bonito, Rogelio;
Rodríguez-Balderrama, Isaías

Publication type:

Article

Solitary Median Maxillary Central Incisor: A Report of 2 Cases.

Published in:

2012

By:

Sekerci, Ahmet Ercan;
Uçar, Faruk İzzet;
Gümüş, Hüsniye;
Aydınbelge, Mustafa;
Sisman, Yildiray

Publication type:

Case Study

Solitary Median Maxillary Central Incisor Syndrome and Holoprosencephaly: A Case Report.

Published in:

2010

By:

Viana, Elizabete da Silva;
Kramer, Paulo Floriani;
Closs, Luciane Quadrado;
Scalco, Giovana

Publication type:

Case Study

Semilobar holoprosencephaly with associated cyclopia and radial aplasia: first trimester diagnosis by means of integrating 2D-3D ultrasound.

Published in:

2009

By:

Dane, Banu;
Dane, Cem;
Aksoy, Figen;
Yayla, Murat

Publication type:

journal article

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

Published in:

2007

By:

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

Publication type:

journal article

Prenatal diagnosis of the 13q-syndrome through three-dimensional ultrasonography: a case report.

Published in:

Archives of Gynecology & Obstetrics, 2006, v. 274, n. 4, p. 243, doi. 10.1007/s00404-006-0128-0

By:

Júnior, Edward Araujo;
Filho, Hélio Antonio Guimarães;
Pires, Cláudio Rodrigues;
Filho, Sebastião Marques Zanforlin

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

Sonographic Diagnosis of the Middle Interhemispheric Variant of Holoprosencephaly in the Prenatal Period.

Published in:

Türkiye Klinikleri Journal of Case Reports, 2022, v. 30, n. 4, p. 245, doi. 10.5336/caserep.2022-91722

By:

ÖZALP, Miraç;
SALMAN, Tuğba;
MİHMANLI, Veli

Publication type:

Article

Prenatal Diagnosis of a Trisomy 13 Case Associated with Holoprosencephaly by Ultrasonography and Quantitative Fluorescent PCR.

Published in:

Turkish Journal of Medical Sciences, 2005, v. 35, n. 3, p. 179

By:

Late Satirolu Tufan, N.;
çEvik Tufan, A.;
Akyildirim, Bal;
Kaleli, Babur;
Nur Semerc, C.;
Bir, Ferda;
Duzcan, Fusun;
Bagci, Huseyin

Publication type:

Article

Pearl Joy Brown (July 27, 2012-March 29, 2018).

Published in:

2018

By:

Hennessey, Ursula

Publication type:

Obituary

The Challenges and the Graces: Learning to Speak Honestly about the Good and the Bad of Raising a Disabled Child.

Published in:

2015

By:

Hennessey, Matthew

Publication type:

Essay

Long-term survival of full trisomy 13 in a 14 year old male: a case report.

Published in:

2016

By:

IMATAKA, G.;
HAGISAWA, S.;
NITTA, A.;
HIRABAYASHI, H.;
SUZUMURA, H.;
ARISAKA, O.

Publication type:

Case Study

Holoprosencephaly: A report of 2 cases with different presentations.

Published in:

Egyptian Journal of Medical Human Genetics, 2008, v. 9, n. 2, p. 249

By:

Shawky, Rabah M.;
Sadik, Doaa I.

Publication type:

Article

“Twig-like” cerebral vessels are not pathognomonic for ACTA A2 mutations: A case report.

Published in:

Interventional Neuroradiology, 2018, v. 24, n. 4, p. 463, doi. 10.1177/1591019918765239

By:

Nagarajan, Krishnan;
Swamiappan, Elango;
Anbazhagan, Sathiaprabhu;
Dalal, Ashwin;
Adithan, Subathra;
Krings, Timo

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

Aplicación clínica de las imágenes de resonancia magnética potenciadas en difusión y tractografía en un niño con holoprosencefalia.

Published in:

Biomédica: Revista del Instituto Nacional de Salud, 2011, v. 31, n. 2, p. 164, doi. 10.7705/biomedica.v31i2.311

By:

Ortiz, Blair;
Herrera, Diego A.;
Vargas, Sergio

Publication type:

Article

1 A Rare Case of Fryns Syndrome With Concurrent Semilobar Holoprosencephaly.

Published in:

American Journal of Clinical Pathology, 2018, v. 149, p. S1, doi. 10.1093/ajcp/aqx114.000

By:

Murray, Glenn;
Sago, William

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

Lack of cell movement links four developmental disorders.

Published in:: Journal of Clinical Investigation, 2010, v. 120, n. 10, p. 3403
Publication type:: Article

Defective migration of neuroendocrine GnRH cells in human arrhinencephalic conditions.

Published in:

2010

By:

Teixeira, Luis;
Guimiot, Fabien;
Dodé, Catherine;
Fallet-Bianco, Catherine;
Millar, Robert P.;
Delezoide, Anne-Lise;
Hardelin, Jean-Pierre;
Dodé, Catherine

Publication type:

journal article

Pathogenesis of holoprosencephaly.

Published in:

Journal of Clinical Investigation, 2009, v. 119, n. 6, p. 1403, doi. 10.1172/JCI38937

By:

Xin Geng;
uillermo Oliver

Publication type:

Article

Gas1 is a modifier for holoprosencephaly and genetically interacts with sonic hedgehog.

Published in:

2007

By:

Seppala, Maisa;
Depew, Michael J.;
Martinelli, David C.;
Chen-Ming Fan;
Sharpe, Paul T.;
Cobourne, Martyn T.;
Fan, Chen-Ming

Publication type:

journal article

Temporal perturbations in sonic hedgehog signaling elicit the spectrum of holoprosencephaly phenotypes.

Published in:

Journal of Clinical Investigation, 2004, v. 114, n. 4, p. 485, doi. 10.1172/JCI200419596

By:

Cordero, Dwight;
Marcucio, Ralph;
Diane Hu;
Gaffield, William;
Tapadia, Minal;
Helms, Jill A.

Publication type:

Article

FRONTONASAL ENCEPHALOCOELE COMBINED WITH SEMILOBAR HOLOPROSENCEPHALY AND DEXTROCARDIA.

Published in:

Malaysian Journal of Medical Sciences, 2008, p. 227

By:

C. B., Goh;
R., Noraida;
L. Y., Nyin;
Lee, N. N. A.;
Rostenberghe, Van

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

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

SELECTED ELEMENTS OF THE PSYCHOSOCIAL FUNCTIONING OF A GIRL WITH HOLOPROSENCEPHALY.

Published in:

2014

By:

Szulman-Wardal, Aleksandra;
Mański, Arkadiusz

Publication type:

Case Study

Prenatal Neurologic Anomalies Sonographic Diagnosis and Treatment.

Published in:

2012

By:

De Catte, Luc;
De Keersmaeker, Bart;
Claus, Filip

Publication type:

Opinion

Síndrome do incisivo central superior mediano: relato de caso.

Published in:

2010

By:

Gomes, Janaina Cristina;
Araujo, Monica Tirré;
Orioli, Iêda Maria

Publication type:

Case Study

Semilobar holoprosencephaly with cebocephaly associated with maternal early onset preeclampsia: a case report.

Published in:

2018

By:

Essa, Ahmed Amdihun;
Feleke, Lakachew Asrade;
Ahmed, Dawed Muhammed

Publication type:

journal article

PERFIL DE HABILIDADES DO DESENVOLVIMENTO EM CRIANÇAS COM HOLOPROSENCEFALIA E HOLOPROSENCEFALIA LIKE.

Published in:

Revista CEFAC, 2012, v. 14, n. 3, p. 423

By:

Cassab, Tatiana Vialogo;
Lamônica, Dionísia Aparecida Cusin;
Zorzetto, Neivo Luiz;
Giacheti, Célia Maria

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

Holoprosencephaly: report of four cases and genotype-phenotype correlations.

Published in:

Journal of Genetics, 2013, v. 92, n. 1, p. 97, doi. 10.1007/s12041-013-0215-5

By:

LAMI, FRANCESCA;
CARLI, DIANA;
FERRARI, PAOLA;
MARINI, MONICA;
ALESI, VIOLA;
IUGHETTI, LORENZO;
PERCESEPE, ANTONIO

Publication type:

Article

Holoprosencephaly: A guide to diagnosis and clinical management.

Published in:

Indian Pediatrics, 2011, v. 48, n. 6, p. 457, doi. 10.1007/s13312-011-0078-x

By:

RAAM, MANU S.;
SOLOMON, BENJAMIN D.;
MUENKE, MAXIMILIAN

Publication type:

Article

Genetic susceptibility in the neural tube defects induced by ochratoxin A in the genetic arhinencephaly mouse, Pdn/Pdn.

Published in:

Congenital Anomalies, 2006, v. 46, n. 3, p. 144, doi. 10.1111/j.1741-4520.2006.00117.x

By:

Ohta, Ken-ichi;
Maekawa, Mizuho;
Katagiri, Ryu-ichi;
Ueta, Etsuko;
Naruse, Ichiro

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

Casting an eye over cyclopia.

Published in:

Nature, 1998, v. 395, n. 6698, p. 112, doi. 10.1038/25836

By:

Blader, Patrick;
Strahle, Uwe

Publication type:

Article

Use of Chlorothiazide in the Management of Central Diabetes Insipidus in Early Infancy.

Published in:

Case Reports in Pediatrics, 2017, p. 1, doi. 10.1155/2017/2407028

By:

Raisingani, Manish;
Palliyil Gopi, Resmy;
Shah, Bina

Publication type:

Article

A Rare Case of Proboscis Lateralis With Median Cleft Lip.

Published in:

2010

By:

Sakamoto, Yoshiaki;
Nakajima, Tatsuo;
Miyamoto, Junpei

Publication type:

Case Study

Prenatal Ultrasound Diagnosis in 51 Cases of Holoprosencephaly: Craniofacial Anatomy, Associated Malformations, and Genetics.

Published in:

Cleft Palate Craniofacial Journal, 2010, v. 47, n. 1, p. 15, doi. 10.1597/08-036.1

By:

Wenghoefer, M.;
Ettema, Anke M.;
Sina, F.;
Geipel, A.;
Kuijpers-Jagtman, A. M.;
Hansmann, H.;
Borstlap, W. A.;
Bergé, S.

Publication type:

Article

Lobar Holoprosencephaly With a Median Cleft: Case Report.

Published in:

Cleft Palate Craniofacial Journal, 2009, v. 46, n. 5, p. 549, doi. 10.1597/08-059.1

By:

Gawrych, Elžbieta;
Janiszewska-Olszowska, Joanna;
Walecka, Anna;
Syryńska, Maria;
Chojnacka, Hanna

Publication type:

Article

Holoprosencephaly due to mutations in ZIC2: alanine tract expansion mutations may be caused by parental somatic recombination.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 8, p. 791, doi. 10.1093/hmg/10.8.791

By:

Brown, Lúcia Y.;
Odent, Sylvie;
David, Véronique;
Blayau, Martine;
Dubourg, Christèle;
Apacik, Can;
Delgado, Mauricio A.;
Hall, Bryan D.;
Reynolds, James F.;
Sommer, Annemarie;
Wieczorek, Dagmar;
Brown, Stephen A.;
Muenke, Maximilian

Publication type:

Article

Holoprosencephaly due to mutations in ZIC2: alanine tract expansion mutations may be caused by parental somatic recombination.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 8, p. 791, doi. 10.1093/hmg/10.8.791

By:

Brown, Lúcia Y.;
Odent, Sylvie;
David, Véronique;
Blayau, Martine;
Dubourg, Christèle;
Apacik, Can

Publication type:

Article

The mutational spectrum of the Sonic Hedgehog gene in holoprosencephaly: SHH mutations cause a significant proportion of autosomal dominant holoprosencephaly.

Published in:

Human Molecular Genetics, 1999, v. 8, n. 13, p. 2479, doi. 10.1093/hmg/8.13.2479

By:

Nanni, Luisa;
Ming, Jeffrey E.;
Bocian, Maureen;
Steinhaus, Kathryn;
Bianchi, Diana W.;
Die-Smulders, Christine de;
Giannotti, Aldo;
Imaizumi, Kiyoshi;
Jones, Kenneth L.;
Del Campo, Miguel;
Martin, Rick A.;
Meinecke, Peter;
Pierpont, Mary Ella M.;
Robin, Nathaniel H.;
Young, Ian D.;
Roessler, Erich;
Muenke, Maximilian

Publication type:

Article