Works matching Opitz-Frias syndrome

Results: 29

Mid1/Mid2 expression in craniofacial development and a literature review of X-linked opitz syndrome.

Published in:

Molecular Genetics & Genomic Medicine, 2016, v. 4, n. 1, p. 95, doi. 10.1002/mgg3.183

By:

Li, Bijun;
Zhou, Tianhong;
Zou, Yi

Publication type:

Article

Hidden danger of button batteries.

Published in:

2015

By:

Taghavi, Kiarash;
Hobson, Andrew;
Borzi, Peter

Publication type:

Other

Opitz-Frias syndrome.

Published in:

Nursing Children & Young People, 2017, v. 29, n. 10, p. 20, doi. 10.7748/ncyp.29.10.20.s24

By:

Crawford, Doreen;
Dearmun, Annette

Publication type:

Article

Emerging Roles of the TRIM E3 Ubiquitin Ligases MID1 and MID2 in Cytokinesis.

Published in:

Frontiers in Physiology, 2019, p. N.PAG, doi. 10.3389/fphys.2019.00274

By:

Zanchetta, Melania Eva;
Meroni, Germana

Publication type:

Article

A Case Report of 9p Deletion Syndrome Associated with Partial Trisomy of 1q42.

Published in:

Maedica - a Journal of Clinical Medicine, 2017, v. 12, n. 1, p. 62

By:

VAHABI, Ali;
HAZAN, Filiz;
RAD, Isa Abdi

Publication type:

Article

Oro-facial digital syndrome (type II) with lingual lipomas.

Published in:

Indian Journal of Medical Research, 2016, v. 144, n. 4, p. 636, doi. 10.4103/0971-5916.200889

By:

Abdulla, Riaz;
Somasundaran, Maya

Publication type:

Article

INTERMITTENT EXOTROPIA COURSE IN FRONTONASAL DYSPLASIA AND SEVERE ORBITAL HYPERTELORISM: CASE REPORT.

Published in:

2016

By:

PAVLOVIĆ, Zorana B.;
STANKOVIĆ, Branislav R.

Publication type:

Case Study

Title of presented paper: Ethical challenges in a case with mosaicism.

Published in:

European Journal of Clinical & Experimental Medicine, 2023, p. 88

By:

Wątek, Milena;
Zaczyk, Kinga

Publication type:

Article

Association of abnormal metopic suture causing hypertelorism, interfrontal encephalocele with craniofacial cosmetic deformity associated with myelomeningocele: management literature review.

Published in:

Romanian Neurosurgery, 2017, v. 31, n. 2, p. 182, doi. 10.1515/romneu-2017-0028

By:

Guillermo Calderon-Miranda, Willem;
Satyarthee, Guru Dutta;
Padilla-Zambrano, Huber;
Ramos-Villegas, YanCarlos;
Alvis-Miranda, Hernando Raphael;
Mo-Carrascal, Joulen;
Maraby, Johana;
Moscote-Salazar, Luis Rafael

Publication type:

Article

Kabuki make-up syndrome with genitourinary anomalies, ophthalmologic features and hyperpigmentation in an Egyptian child.

Published in:

Egyptian Journal of Medical Human Genetics, 2017, v. 18, n. 1, p. 87, doi. 10.1016/j.ejmhg.2015.12.001

By:

Shawky, Rabah M.;
Gamal, Radwa;
Mostafa, Nayera

Publication type:

Article

Prenatal diagnosis of autosomal recessive Robinow syndrome using 3D ultrasound.

Published in:

Clinical Case Reports, 2017, v. 5, n. 7, p. 1072, doi. 10.1002/ccr3.784

By:

Jeppesen, Bolette F.;
Hove, Hanne B.;
Kreiborg, Sven;
Hermann, Nuno V.;
Darvann, Tron A.;
Jørgensen, Finn Stener

Publication type:

Article

Genetic and prenatal findings in two Japanese patients with Schinzel-Giedion syndrome.

Published in:

Clinical Case Reports, 2017, v. 5, n. 1, p. 5, doi. 10.1002/ccr3.738

By:

Hishimura, Nozomi;
Watari, Michiko;
Ohata, Hiroki;
Fuseya, Naho;
Wakiguchi, Sadae;
Tokutomi, Tomoharu;
Okuhara, Kouji;
Takahashi, Nobuhiro;
Iizuka, Susumu;
Yamamoto, Hiroshi;
Mishima, Takashi;
Fujieda, Satoko;
Kobayashi, Ryoji;
Cho, Kazutoshi;
Kuroda, Yukiko;
Kurosawa, Kenji;
Tonoki, Hidefumi

Publication type:

Article

A Rare Case of Unilateral Morning Glory Disc Anomaly in a Patient with Turner Syndrome: Report and Review of Posterior Segment Associations.

Published in:

2018

By:

Sahni, Dev R.;
Wallace, Michael;
Kanhere, Mansi;
Al Saif, Hind;
Couser, Natario

Publication type:

Case Study

A surgical approach to the craniofacial defects of Opitz G/BBB syndrome.

Published in:

Journal of Surgical Case Reports, 2017, v. 2017, n. 2, p. 1, doi. 10.1093/jscr/rjx032

By:

Regan, John P.;
Szymanski, Karen;
Podda, Silvio;
Gargano, Francesco;
Kopiecki, Anthony

Publication type:

Article

Successful use of ultrasound-guided caudal catheter in a child with a very low termination of dural sac and Opitz- GBBB syndrome: a case report.

Published in:

Pediatric Anesthesia, 2015, v. 25, n. 10, p. 1060, doi. 10.1111/pan.12728

By:

Mislovic, Branislav;
Lonnqvist, Per ‐ Arne

Publication type:

Article

Wolf-Hirschhorn syndrome - a case report.

Published in:

2017

By:

Bulak, Halyna;
Kopanska, Dzwenyslava

Publication type:

Case Study

Successful management of a case of Tessier's cleft number 0 and 14 with associated encephalocoele.

Published in:

2016

By:

Baruah, Udismita;
Dayal, Madhu;
Giridhar, K. K.;
Virender

Publication type:

Case Study

Orbital box osteotomy in frontonasal dysplasia with severe hypertelorism: Our first experience.

Published in:

Journal of Cleft Lip Palate & Craniofacial Anomalies, 2023, v. 10, n. 2, p. 103, doi. 10.4103/jclpca.jclpca_4_23

By:

Adnyana, I;
Samsarga, Gede;
Vania, Rachel

Publication type:

Article

Determination of the allelic frequency in Smith-Lemli-Opitz syndrome by analysis of massively parallel sequencing data sets.

Published in:

Clinical Genetics, 2015, v. 87, n. 6, p. 570, doi. 10.1111/cge.12425

By:

Cross, J.L.;
Iben, J.;
Simpson, C.L.;
Thurm, A.;
Swedo, S.;
Tierney, E.;
Bailey‐Wilson, J.E.;
Biesecker, L.G.;
Porter, F.D.;
Wassif, C.A.

Publication type:

Article

XLOS-Observed Mutations of MID1 Bbox1 Domain Cause Domain Unfolding.

Published in:

PLoS ONE, 2014, v. 9, n. 9, p. 1, doi. 10.1371/journal.pone.0107537

By:

Wright, Katharine M.;
Wu, Kuanlin;
Babatunde, Omotolani;
Du, Haijuan;
Massiah, Michael A.

Publication type:

Article

Opitz-Frias syndrome. A case with potentially hazardous anaesthetic implications.

Published in:

1985

By:

Bolsin, S N;
Gillbe, C

Publication type:

journal article

Opitz-Frias syndrome.

Published in:

Anaesthesia, 1985, v. 40, n. 12, p. 1189, doi. 10.1111/j.1365-2044.1985.tb10657.x

By:

BOLSIN, S. N.;
GILLBE, C.

Publication type:

Article

A Newborn with Arhinia: Suspected BAM Syndrome.

Published in:

Journal of Behcet Uz Children's Hospital, 2023, v. 13, n. 1, p. 70, doi. 10.4274/buchd.galenos.2022.18942

By:

Armağan, Coşkun;
Egeli, Tuğba Üçüncü;
Akyıldız, Can;
Erdoğan, Kadri Murat;
Erdoğan, Funda;
Duman, Nuray;
Özkan, Hasan

Publication type:

Article

Bilateral cleft lip and palate, hypertelorism with agenesis of corpus callosum.

Published in:

2016

By:

Balaji, S. M.

Publication type:

journal article

Dental treatment of a patient with Opitz G/BBB syndrome.

Published in:

2017

By:

Giovani, Élcio Magdalena;
Marinho, Kelly Cristine Tarquinio;
Andia‐Merlin, Ruth

Publication type:

journal article

Hypertelorism.

Published in:

Indian Journal of Plastic Surgery, 2014, v. 47, n. 3, p. 284, doi. 10.4103/0970-0358.146572

By:

Sharma, Ramesh K.

Publication type:

Article

Thanatophoric dysplasia: Antenatal to postmortem.

Published in:

2015

By:

Chavadi, Chanabasappa V.;
Mahale, Nina;
Jasthi, Goutham;
Prabhu, Sonali;
Kory, Swetha

Publication type:

Case Study

11 Fatal Pulmonary Hemorrhage in a Patient With Loeys Dietz Syndrome: A Novel Case Report.

Published in:

American Journal of Clinical Pathology, 2018, v. 149, p. S4, doi. 10.1093/ajcp/aqx114.010

By:

Sobczyk, Juliana;
Lin, Grace;
Fadare, Oluwole

Publication type:

Article

H-type tracheoesophageal fistula with type III laryngotracheoesophageal cleft.

Published in:

European Archives of Oto-Rhino-Laryngology, 2007, v. 264, n. 11, p. 1373, doi. 10.1007/s00405-007-0356-3

By:

Antao, Brice;
Soccorso, Giampiero;
Bateman, Neil;
Shawis, Rang

Publication type:

Article