Works matching DE "FACIAL abnormalities"

Results: 1527

Intrafamilial Phenotypic Variability of the FGFR1 p.Cys277Tyr Variant: A Case Report and Review of the Literature.

Published in:

Genes, 2025, v. 16, n. 5, p. 495, doi. 10.3390/genes16050495

By:

Szoszkiewicz, Anna;
Sowińska-Seidler, Anna;
Gruca-Stryjak, Karolina;
Jamsheer, Aleksander

Publication type:

Article

Combinatorial readout of histone H3 modifications specifies localization of ATRX to heterochromatin.

Published in:

Nature Structural & Molecular Biology, 2011, v. 18, n. 7, p. 777, doi. 10.1038/nsmb.2070

By:

Eustermann, Sebastian;
Ji-Chun Yang;
Law, Martin J.;
Amos, Rachel;
Chapman, Lynda M.;
Jelinska, Clare;
Garrick, David;
Clynes, David;
Gibbons, Richard J.;
Rhodes, Daniela;
Higgs, Douglas R.;
Neuhaus, David

Publication type:

Article

Options for the nasal repair of non-syndromic unilateral Tessier no. 2 and 3 facial clefts.

Published in:

Indian Journal of Plastic Surgery, 2014, v. 47, n. 3, p. 340, doi. 10.4103/0970-0358.146588

By:

Reddy, Srinivas Gosla;
Reddy, Rajgopal R.;
Obwegeser, Joachim;
Mommaerts, Maurice Y.

Publication type:

Article

Unfavourable results in the repair of the cleft lip.

Published in:

Indian Journal of Plastic Surgery, 2013, v. 46, n. 2, p. 171, doi. 10.4103/0970-0358.118591

By:

Narayanan, Puthucode V.;
Adenwalla, Hirji Sorab

Publication type:

Article

Formatting the surgical management of Tessier cleft types 3 and 4.

Published in:

Indian Journal of Plastic Surgery, 2009, v. 42, n. S1, p. S174, doi. 10.4103/0970-0358.57192

By:

Mishra, R. K.;
Purwar, Reetesh

Publication type:

Article

Cleft lip and palate genetics and application in early embryological development.

Published in:

Indian Journal of Plastic Surgery, 2009, v. 42, n. S1, p. S35, doi. 10.1055/s-0039-1699375

By:

Yu, Wenli;
Serrano, Maria;
San Miguel, Symone;
Ruest, L. Bruno;
Svoboda, Kathy K. H.

Publication type:

Article

Roberts-SC syndrome, a rare syndrome and cleft palate repair.

Published in:

Indian Journal of Plastic Surgery, 2008, v. 41, n. 2, p. 222, doi. 10.4103/0970-0358.44939

By:

Murthy, Jyotsna;
Dewan, Madhu;
Hussain, Altaf

Publication type:

Article

Management strategy for facial arteriovenous malformations.

Published in:

Indian Journal of Plastic Surgery, 2008, v. 41, n. 2, p. 183, doi. 10.4103/0970-0358.44943

By:

Bhandari, P. S.;
Sadhotra, L. P.;
Bhargava, P.;
Bath, A. S.;
Mukherjee, M. K.;
Maurya, Sanjay

Publication type:

Article

The association between blood groups and maxillofacial deformities.

Published in:

Indian Journal of Plastic Surgery, 2008, v. 41, n. 2, p. 138, doi. 10.4103/0970-0358.44921

By:

Gheisari, Rasoul;
Ghoreishian, Mehdi;
Movahedian, Bijan;
Roozbehi, Amrolah

Publication type:

Article

Straight line closure of congenital macrostomia.

Published in:

Indian Journal of Plastic Surgery, 2004, v. 37, n. 2, p. 121, doi. 10.1055/s-0039-1697223

By:

Schwarz, Richard;
Sharma, Digvijay

Publication type:

Article

Different levels of undermining in face lift - experience of 141 consecutive cases.

Published in:

Indian Journal of Plastic Surgery, 2004, v. 37, n. 2, p. 115, doi. 10.1055/s-0039-1697222

By:

Panettiere, Pietro;
Marchetti, Lucio;
Accorsi, Danilo;
del Gaudio, Giovanni-alberto

Publication type:

Article

A Rare Etiology of Hypocalcemic Seizures in Adulthood: Clues to Diagnosis from Facial Dysmorphism.

Published in:

2021

By:

Batra, Nisha;
Kant, Ravi;
Mandal, Kausik;
Joshi, Kriti

Publication type:

Case Study

Hypoxic Ischemic Encephalopathy or Metabolic Etiology-MRI as a Clue to Diagnosis.

Published in:

2020

By:

Mishra, Ranjana;
Verma, Jyotsna;
Sheth, Swapnil;
Verma, I;
Puri, Ratna;
Verma, I C;
Puri, Ratna Dua

Publication type:

Letter

12p microRNA expression in fibroblast cell lines from probands with Pallister-Killian syndrome.

Published in:

Chromosome Research, 2014, v. 22, n. 4, p. 453, doi. 10.1007/s10577-014-9431-y

By:

Izumi, Kosuke;
Zhang, Zhe;
Kaur, Maninder;
Krantz, Ian

Publication type:

Article

One gene, two phenotypes: ROR2 mutations in autosomal recessive Robinow syndrome and autosomal dominant brachydactyly type B (Communicated by Iain McIntosh).

Published in:

Human Mutation, 2003, v. 22, n. 1, p. 1, doi. 10.1002/humu.10233

By:

Ali R. Afzal;
Steve Jeffery

Publication type:

Article

Mutational analysis of the ATRX gene by DGGE: A powerful diagnostic approach for the ATRX syndrome (Communicated by Sergio Ottolenghi).

Published in:

Human Mutation, 2003, v. 21, n. 5, p. 529, doi. 10.1002/humu.10183

By:

Eugenia Borgione;
Maurizio Sturnio;
Angela Spalletta;
Maria Angela Lo Giudice;
Lucia Castiglia;
Ornella Galesi;
Angela Ragusa;
Marco Fichera

Publication type:

Article

Mutational analysis of the ATRX gene by DGGE: A powerful diagnostic approach for the ATRX syndromeCommunicated by Sergio Ottolenghi.

Published in:

Human Mutation, 2003, v. 21, n. 5, p. 529, doi. 10.1002/humu.10183

By:

Eugenia Borgione;
Maurizio Sturnio;
Angela Spalletta;
Maria Angela Lo Giudice;
Lucia Castiglia;
Ornella Galesi;
Angela Ragusa;
Marco Fichera

Publication type:

Article

Accuracies of facial soft tissue depth means for estimating ground truth skin surfaces in forensic craniofacial identification.

Published in:

International Journal of Legal Medicine, 2015, v. 129, n. 4, p. 877, doi. 10.1007/s00414-014-1113-y

By:

Stephan, Carl

Publication type:

Article

Antley-Bixler Syndrome: Surgical Management of Ambiguous Genitalia - A Case Report.

Published in:

Medical Principles & Practice, 2014, v. 23, n. 4, p. 384, doi. 10.1159/000356857

By:

Boia, E.S.;
Popoiu, M.C.;
Puiu, M.;
Stanciulescu, C.M.;
David, V.L.

Publication type:

Article

Dijital Yöntemler ile Maksillofasiyal Protezler: Yenilikçi Tasarım ve Üretim Yaklaşımları.

Published in:

Selcuk Dental Journal, 2024, v. 11, n. 3, p. 361, doi. 10.15311/selcukdentj.1393019

By:

SÖZEN YANIK, İrem;
SÜMER, Sema Merve

Publication type:

Article

Noonan syndrome: molecular and clinical findings in individuals with PTPN11 pathogenic variants.

Published in:

Pamukkale Medical Journal, 2024, v. 17, n. 3, p. 542, doi. 10.31362/patd.1438458

By:

Karaer, Derya;
Durak, Taner;
Karaer, Kadri

Publication type:

Article

Prenatal findings and postnatal confirmed of perlman syndrome: a case report.

Published in:

Jinekoloji-Obstetrik & Neonatoloji Tip Dergisi, 2025, v. 22, n. 1, p. 135, doi. 10.38136/jgon.1144213

By:

ŞEKER, Erdal;
ÖZIŞIK, Mehmet Seçkin;
KRAJA, Elvis;
KÖSTEKÇİ, Yasemin Ezgi;
OKULU, Emel;
KOÇ, Acar

Publication type:

Article

Minimal energy eMatrix treatment combined with elure application for an expedited response in the treatment of hyperpigmentation and overall facial skin rejuvenation: A case report series.

Published in:

2016

By:

Friedman, David;
Kutscher, Tuvia D.

Publication type:

Case Study

Scientific skepticism and new discoveries: An analysis of a report of zinc/phytase supplementation and the efficacy of botulinum toxins in treating cosmetic facial rhytides, hemifacial spasm and benign essential blepharospasm.

Published in:

Journal of Cosmetic & Laser Therapy, 2014, v. 16, n. 5, p. 258, doi. 10.3109/14764172.2014.948882

By:

Cohen, Joel L.

Publication type:

Article

A split-face study using Botulinum Toxin type B to decrease facial Erythema index.

Published in:

Journal of Cosmetic & Laser Therapy, 2011, v. 13, n. 5, p. 243, doi. 10.3109/14764172.2011.613479

By:

Oh, Yu-Jin;
Lee, Na-Young;
Suh, Dong-Hye;
Koh, Jea-Sook;
Lee, Sang-Jun;
Shin, Min-Kyung

Publication type:

Article

Concurrent structural fat grafting and carbon dioxide laser resurfacing for perioral and lower face rejuvenation.

Published in:

Journal of Cosmetic & Laser Therapy, 2011, v. 13, n. 1, p. 6, doi. 10.3109/14764172.2011.552615

By:

Ransom, Evan R.;
Antunes, Marcelo B.;
Bloom, Jason D.;
Greco, Timothy

Publication type:

Article

Cervicofacial Emphysema After a Dental Procedure: A Case Report.

Published in:

2023

By:

Atar, Yavuz;
Çelik, Cem;
Berkiten, Mustafa

Publication type:

Case Study

A partnership with a smile!

Published in:

SA Pharmaceutical Journal Incorporating Pharmacy Management, 2019, v. 86, n. 3, p. 55

By:

Wehmeyer, Alexander

Publication type:

Article

A Case of Rafiq Syndrome (MAN1B1-CDG) in a Palestinian Child, With Brief Literature Review of 44 Cases.

Published in:

Journal of Investigative Medicine High Impact Case Reports, 2025, p. 1, doi. 10.1177/23247096251313731

By:

Iskafi, Reema;
AbuRahmeh, Bahaa;
Aljuneidi, Roa'a;
AlShweiki, Hidaya;
Abdelnabi, Siraj;
Abukhalaf, Anas;
Maraqa, Bara'

Publication type:

Article

Another Look at Facial Disfigurement.

Published in:: Journal of Rehabilitation, 1990, v. 56, n. 1
Publication type:: Article

Does Marriage Influence Whether a Facially Disfigured Person Is Considered Physically Unattractive?

Published in:

Journal of Psychology, 1985, v. 119, n. 2, p. 163, doi. 10.1080/00223980.1985.10542883

By:

Bull, Ray;
Brooking, Julia

Publication type:

Article

Deletion 9p syndrome.

Published in:: Anaesthesiologie & Intensivmedizin, 2021, v. 62, n. 4, p. 1, doi. 10.19224/ai2021.S106
Publication type:: Article

Pre and Postoperative Evaluation of Cutaneous Facial Flaps Using Infrared Thermographic Camera.

Published in:

Medicina Moderna, 2016, v. 23, n. 4, p. 297

By:

Raducu, Laura;
Cozma, Cristina Nicoleta;
Stroica, Laura Oana;
Neagu, Tiberiu Paul;
Jecan, Cristian Radu

Publication type:

Article

Structural and Functional Causes of Hypernasality in Velocardiofacial Syndrome.

Published in:

Folia Phoniatrica et Logopaedica, 2009, v. 61, n. 2, p. 93, doi. 10.1159/000209252

By:

Baylis, Adriane L.;
Watson, Peter J.;
Moller, Karlind T.

Publication type:

Article

A Review of Artificial Intelligence-Based Down Syndrome Detection Techniques.

Published in:

Life (2075-1729), 2025, v. 15, n. 3, p. 390, doi. 10.3390/life15030390

By:

Shaikh, Mujeeb Ahmed;
Al-Rawashdeh, Hazim Saleh;
Sait, Abdul Rahaman Wahab

Publication type:

Article

Structural and Dynamic Analyses of Pathogenic Variants in PIK3R1 Reveal a Shared Mechanism Associated among Cancer, Undergrowth, and Overgrowth Syndromes.

Published in:

Life (2075-1729), 2024, v. 14, n. 3, p. 297, doi. 10.3390/life14030297

By:

Dsouza, Nikita R.;
Cottrell, Catherine E.;
Davies, Olivia M. T.;
Tollefson, Megha M.;
Frieden, Ilona J.;
Basel, Donald;
Urrutia, Raul;
Drolet, Beth A.;
Zimmermann, Michael T.

Publication type:

Article

Intellectual abilities in a large sample of children with Velo–Cardio–Facial Syndrome: an update.

Published in:

Journal of Intellectual Disability Research, 2007, v. 51, n. 9, p. 666, doi. 10.1111/j.1365-2788.2007.00955.x

By:

De Smedt, B.;
Devriendt, K.;
Fryns, J.‐P.;
Vogels, A.;
Gewillig, M.;
Swillen, A.

Publication type:

Article

Temperament in velocardiofacial syndrome.

Published in:

Journal of Intellectual Disability Research, 2007, v. 51, n. 3, p. 218, doi. 10.1111/j.1365-2788.2006.00859.x

By:

Antshel, K. M.;
Stallone, K.;
AbdulSabur, N.;
Shprintzen, R.;
Roizen, N.;
Higgins, A. M.;
Kates, W. R.

Publication type:

Article

Hypogonadotropic Hypogonadism and Kleefstra Syndrome due to a Pathogenic Variant in the EHMT1 Gene: An Underrecognized Association.

Published in:

2018

By:

Torga, Ana Patricia;
Hodax, Juanita;
Mori, Mari;
Schwab, Jennifer;
Quintos, Jose Bernardo

Publication type:

Case Study

Evaluation of the quality of life of patients with maxillofacial defects after prosthodontic therapy with obturator prostheses.

Published in:: 2011
Publication type:: Abstract

Tuberculosis diagnosis.

Published in:

2009

By:

Al-Hadad, I.;
Ujam, A.;
Speculand, B.

Publication type:

Case Study

Tea towel sign.

Published in:

2008

By:

Walker, T. W. M.;
Mackay, S. C.;
Curtin, J.

Publication type:

Letter

Charity offers hope to disfigured children.

Published in:: British Dental Journal, 2007, v. 202, n. 12, p. 711, doi. 10.1038/bdj.2007.552
Publication type:: Article

Orthodontic-surgical treatment of dentofacial anomalies.

Published in:

2005

By:

Ferguson, J. W.

Publication type:

Book Review

Research award.

Published in:: British Dental Journal, 2005, v. 198, n. 1, p. 5, doi. 10.1038/sj.bdj.4812017
Publication type:: Article

FROM CLINICAL SUSPECT TO MOLECULAR CONFIRMATION OF NOONAN SYNDROME; CONTRIBUTION OF "BEST PRACTICE" GENETIC COUNSELING AND NEW TECHNICAL POSSIBILITIES.

Published in:

Genetika (0534-0012), 2015, v. 47, n. 3, p. 877, doi. 10.2298/GENSR1503877B

By:

BUKVIC, Nenad;
VARVARA, Dora;
ROSSI, Cesare;
FAIENZA, Maria Felicia;
SUSCA, Francesco C.;
RESTA, Nicoletta

Publication type:

Article

Validation of 3 Computer-Aided Facial Phenotyping Tools (DeepGestalt, GestaltMatcher, and D-Score): Comparative Diagnostic Accuracy Study.

Published in:

Journal of Medical Internet Research, 2024, v. 26, p. 1, doi. 10.2196/42904

By:

Reiter, Alisa Maria Vittoria;
Pantel, Jean Tori;
Danyel, Magdalena;
Horn, Denise;
Ott, Claus-Eric;
Mensah, Martin Atta

Publication type:

Article

First case of Rubinstein–Taybi syndrome with desquamation associated with a novel mutation in the bromodomain of the CREBBP gene.

Published in:

Clinical & Experimental Dermatology, 2019, v. 44, n. 5, p. e205, doi. 10.1111/ced.13871

By:

Wang, L.;
Deng, Y.;
Zhou, X.‐L.;
Ma, J. J.;
Li, W.

Publication type:

Article

Periodic facial erythema in a patient with postural orthostatic tachycardia syndrome.

Published in:

Clinical & Experimental Dermatology, 2018, v. 43, n. 1, p. 100, doi. 10.1111/ced.13246

By:

Khan, S.;
Affleck, A.

Publication type:

Article

A homozygous missense mutation in PEPD encoding peptidase D causes prolidase deficiency associated with hyper-IgE syndrome.

Published in:

Clinical & Experimental Dermatology, 2006, v. 31, n. 3, p. 435, doi. 10.1111/j.1365-2230.2006.02112.x

By:

Hershkovitz, T.;
Hassoun, G.;
Indelman, M.;
Shlush, L. I.;
Bergman, R.;
Pollack, S.;
Sprecher, Eli

Publication type:

Article