Results 61 to 70 of about 1,143,678 (194)

Non‐RASopathy Genetic Syndromes Identified as the Molecular Cause of Disease in Patients Previously Diagnosed With Noonan Syndrome

American Journal of Medical Genetics Part A, Volume 200, Issue 3, Page 661-672, March 2026.
ABSTRACT Noonan Syndrome (NS) is a clinically and genetically heterogeneous condition characterized by typical facial dysmorphisms, short stature, congenital heart defects, and developmental delays. While variants in genes such as PTPN11, SOS1, and RAF1 account for most genetically confirmed cases, diagnosis is challenging due to phenotypic overlap ...
Gabriela Jeesoo Kim, Alexsandra Christianne Malaquias, Debora Romeo Bertola, Raissa Carneiro Rezende, Laurana De Polli Cellin, Lucas Vieira Lacerda Pires, Ana Maria Santillan‐Vasconez, Antônio Marcondes Lerario, Renata da Cunha Scalco, Alexander Augusto de Lima Jorge   +9 more
wiley   +1 more source

BRPF1‐associated intellectual disability, ptosis, and facial dysmorphism in a multiplex family

Molecular Genetics & Genomic Medicine, 2019
Background Over 500 epigenetic regulators have been identified throughout the human genome. Of these, approximately 30 chromatin modifiers have been implicated thus far in human disease. Recently, variants in BRPF1, encoding a chromatin reader, have been
Naomi Pode‐Shakked, Ortal Barel, Ben Pode‐Shakked, Aviva Eliyahu, Amihood Singer, Omri Nayshool, Nitzan Kol, Annick Raas‐Rothschild, Elon Pras, Mordechai Shohat   +9 more
doaj   +1 more source

Ontogeny of RSPO1, FOXL2, and RUNX1 during ovarian differentiation in the marsupial tammar wallaby

Developmental Dynamics, Volume 255, Issue 3, Page 340-361, March 2026.
Abstract Background RSPO1 and FOXL2 are female sex‐determining genes involved in the differentiation and organization of the ovary in some eutherian mammals. Mutations or loss of function of these genes are associated with partial to full sex reversal in mice, humans, and goats.
Monika R. Paranjpe, Yu Chen, Geoff Shaw, Marilyn B. Renfree   +3 more
wiley   +1 more source

Blepharophimosis, ptosis, epicanthus inversus syndrome (BPES syndrome) [PDF]

Journal of Medical Genetics, 1988
Un cas chez une fille est presentee. Zlotogora et coll. ont individualise 2 types. De nombreux enfants necessitent une intervention chirurgicale precoce en raison des difficultes visuelles associees au ptosis et au ...
C, Oley, M, Baraitser
openaire   +2 more sources

Zinc Deficiency Disrupts Germ Cell Nest Breakdown During In Vitro Ovary Culture

Molecular Reproduction and Development, Volume 93, Issue 2, February 2026.
ABSTRACT In mammals, the size of the non‐renewable primordial follicle pool is established before or soon after birth. Primordial follicles, each composed of a single oocyte surrounded by somatic cells, are the only source of gametes during the entire reproductive lifespan of the female.
James M. Hester, Suzanne M. Getman, Melissa E. Pepling, Francisco J. Diaz   +3 more
wiley   +1 more source

Dental and craniofacial characteristics in a patient with Dubowitz syndrome: a case report

Journal of Medical Case Reports, 2011
Introduction Dubowitz syndrome is a very rare, autosomal recessive disease characterized by microcephaly, growth retardation, a high sloping forehead, facial asymmetry, blepharophimosis, sparse hair and eyebrows, low-set ears and mental retardation ...
Tullo Domenica, Cantore Stefania, Ballini Andrea, Desiate Apollonia   +3 more
doaj   +1 more source

Refining the Neonatal Phenotypic Spectrum of Distal Deletion 14q Syndrome: Early Genomic Diagnosis in Infancy

Congenital Anomalies, Volume 66, Issue 1, January/February 2026.
ABSTRACT Distal deletion 14q syndrome is a rare chromosomal disorder characterized by variable features, including growth restriction, craniofacial dysmorphism, developmental delay, and congenital anomalies. Diagnosis is often delayed because conventional G‐banding may appear normal.
Koji Nakae, Shiori Hamada, Junpei Kawamura, Kentaro Ueno, Toshiki Takenouchi, Yasuhiro Okamoto   +5 more
wiley   +1 more source

ITGB5 mutation discovered in a Chinese family with blepharophimosis-ptosis-epicanthus inversus syndrome

Open Life Sciences, 2021
Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) is a rare autosomal-dominant genetic disorder, and mutations in the forkhead box L2 (FOXL2) gene are one of the major genetic causes.
Cheng Tianling, Yuan Xiaobin, Yuan Shaopeng, Zhu Jianying, Tang Shengjian, Zhang Yujie   +5 more
doaj   +1 more source

Establishment of a human induced pluripotent stem cell line, KMUGMCi010-A, from a patient with X-linked Ohdo syndrome bearing missense mutation in the MED12 gene

Stem Cell Research
X-linkded Ohdo syndrome is characterized mainly by intellectual disability, delays in reaching development, feeding difficulties, thyroid dysfunction, and dysmorphic appearance with blepharophimosis, immobile mask-like face and bulbous nose. The X-linked
Hiroki Ura, Sumihito Togi, Hisayo Hatanaka, Yo Niida   +3 more
doaj   +1 more source

Two-Stage Correction of Blepharophimosis Syndrome

Asia-Pacific Journal of Ophthalmology, 2012
To evaluate the outcome of surgical correction of blepharophimosis syndrome.A retrospective, non-randomized, interventional case series.Ten patients undergoing surgical correction of blepharophimosis syndrome in 2 stages were reviewed. In the first stage, correction of epicanthic fold and telecanthus was done by either Y-V plasty or Roveda procedure ...
Murtuza, Nuruddin, Munirujzaman, Osmani
openaire   +2 more sources