Results 41 to 50 of about 59,855 (260)

Novel GREM1 Variations in Sub-Saharan African Patients With Cleft Lip and/or Cleft Palate [PDF]

, 2018
Objective: Cleft lip and/or cleft palate (CL/P) are congenital anomalies of the face and have multifactorial etiology, with both environmental and genetic risk factors playing crucial roles.
Abdur-Rahman, Lukman O., Adeyemo, A. A., Adeyemo, Wasiu Lanre, Agbenorku, Pius, Aregbesola, Babatunde S., Audu, Rosemary, Bello, Seidu A., Busch, Tamara D., Butali, Azeez, Donkor, Peter, Eshete, Mekonen A., Gowans, Lord Jephthah Joojo, Marazita, Mary L., Mossey, Peter A., Murray, Jeffrey C., Obiri-Yeboah, Solomon, Oginni, Fadekemi, Ogunlewe, Mobolanle O., Olaitan, Peter B., Onwuamah, Chika, Oseni, Ganiyu, Oti, Alexander A., Owais, Arwa, Plange-Rhule, Gyikua   +23 more
core   +3 more sources

Phenotype Expansion of Malan Syndrome: New Cases and a Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Malan syndrome is an ultra‐rare overgrowth syndrome caused by pathogenic variants or deletions in nuclear factor one X (NFIX) located at 19p13.2. Here, we report a comprehensive literature review and phenotyping of known patients with Malan syndrome and present a novel cohort of eight patients.
Alex F. Nisbet, Sylvie A. Adams, Zoe S. Katz, Christal G. Delagrammatikas, Kosuke Izumi, Winifred Sigal, Kim Ventarola, Elaine H. Zackai, Julia E. Reid, Grant T. Liu, Jennifer M. Kalish   +10 more
wiley   +1 more source

Methylene Blue Injection for Pain Reduction at Iliac Crest Donor Sites: A Randomized Trial and Meta-analysis

Plastic and Reconstructive Surgery, Global Open
Background:. Postoperative pain and gait disturbance after iliac bone grafting for alveolar clefts significantly impact patients’ quality of life. This study investigated the effect of methylene blue on postoperative analgesia and conducted a meta ...
Cheng Yao, MD, Yilue Zheng, MD, Haizhou Tong, MD, Di Wu, MD, Weiyi Sun, MD, Shuxiu Chen, MD, Yongqian Wang, MD, Tao Song, MD   +7 more
doaj   +1 more source

Long‐Term Follow Up of Two Patients With Variants in the Cluster 1031‐1159 of TRRAP Gene: Expanding the Phenotype of Developmental Delay With or Without Dysmorphic Facies and Autism

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The transformation/transcription domain‐associated protein (TRRAP) gene encodes a large multidomain protein, a member of the phosphatidylinositol 3‐kinase‐related kinase (PIKK) family. TRRAP is a component of the histone acetyltransferase (HAT) complex, and it plays an important role in gene transcription, DNA repair, and cell‐cycle regulation.
Roseli Maria Zechi‐Ceide, Vinicius Contrucci Dantas Segarra, Siulan Vendramini‐Pittoli, Henrique Regonaschi Serigatto, Luiza Virmond, Heloisa Marcelina da Cunha Palhares, Fernanda Jehee, Ana Cristina Victorino Krepischi, Carla Rosenberg, Carlos Henrique Paiva Grangeiro, Nancy Mizue Kokitsu‐Nakata   +10 more
wiley   +1 more source

Success and Failure for Children Born with Facial Clefts in Africa: A 15-Year Follow-up [PDF]

, 2018
Background: This study reviews the 15year program of our Department of Pediatric Surgery for the treatment and follow-up of children born with a cleft in Benin and Togo. Methods: We analyzed files of children born in Africa with a cleft.
Bossou, Raymond, de Buys Roessingh, Anthony, Dolci, Mirko, Hohlfeld, Judith, Meyrat, Blaise-Julien, Zbinden-Trichet, Chantal   +5 more
core  

Streamlining Diagnosis of Bardet–Biedl Syndrome: New Diagnostic Algorithm With Updated Criteria

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Considerable advances have been made in our understanding of Bardet–Biedl syndrome (BBS), particularly in its core clinical features and molecular genetics, warranting an update to the existing diagnostic criteria framework. Using a rigorous, evidence‐based, and consensus‐driven process, a multidisciplinary group of international experts and ...
Jeremy J. Pomeroy, Jesse Richards, Brooke R. Sweeney, Seema Kumar, Katie E. Queen, Joshua Zaritsky, Carl H. Cramer, Elias I. Traboulsi, Brittni A. Scruggs, Erica E. Davis, Ekaterina Keifer, Emma McGibbon, Timothy Ogden, Bendert De Graaf, Tonia Hymers, Elizabeth Forsythe, Philip Beales   +16 more
wiley   +1 more source

The acrocallosal syndrome: A case report and literature survey [PDF]

, 2009
Acrocallosal syndrome (ACS) is a rare, genetically transmitted disorder characterized by facial deformities. These include a large forehead, large anterior fontanelle, broad nasal bridge with increased intercanthal distance, partial or complete agenesis ...
Davies, Lindsey, Gonzales, Cesar, Hodgson, Brian   +2 more
core   +1 more source

Distinct DNA methylation profiles in subtypes of orofacial cleft [PDF]

, 2017
Background Epigenetic data could help identify risk factors for orofacial clefts, either by revealing a causal role for epigenetic mechanisms in causing clefts or by capturing information about causal genetic or environmental factors.
Davey Smith, George, Davies, Amy, Ho, Karen, Humphries, Kerry, Lewis, Sarah, McArdle, Wendy, Relton, Caroline, Sandy, Jonathan, Sharp, Gemma, Stergiakouli, Evie   +9 more
core   +3 more sources

De Novo 2.2 Mb 19q13.42–q13.43 Microdeletion Encompassing U2AF2: Support for a Haploinsufficiency Model

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT U2 small nuclear RNA auxiliary factor 2 (U2AF2) is an essential pre‐mRNA splicing factor involved in the early stages of pre‐mRNA splicing. To date, multiple individuals have been reported with predominantly heterozygous missense variants presenting intellectual disability, speech and motor delays, seizures, hypotonia, and thin or hypoplastic ...
Amanda Toledo, Sarah Araji, Weimin Bi, Seema R. Lalani   +3 more
wiley   +1 more source

The role of negative maternal affective states and infant temperament in early interactions between infants with cleft lip and their mothers [PDF]

, 2012
OBJECTIVES: The study examined the early interaction between mothers and their infants with cleft lip, assessing the role of maternal affective state and expressiveness and differences in infant temperament.
Borgatti, R., Brusati, R., Fedeli, R., Montirosso, R., Morandi, F., Murray, Lynne, Perego, G. G.   +6 more
core   +1 more source