Results 131 to 140 of about 22,857 (208)

From Behavioral and Sleep Disturbances to Genetic Diagnosis: Smith–Magenis Syndrome and the Importance of the Diagnostic Pathway

Developmental Neurobiology, Volume 86, Issue 3, July 2026.
ABSTRACT Smith–Magenis syndrome (SMS) is a rare multisystem genetic disorder caused by a 17p11.2 microdeletion or pathogenic variants in the retinoic acid‐induced 1 (RAI1) gene. It is characterized by developmental delay, distinctive craniofacial features, behavioral dysregulation, and inverted sleep–wake rhythm.
Fethiye Kılıçaslan, Ayşe Rümeysa Olgar Çetin, Özlem Öz, Mert Coşkun, Mehmet Burak Mutlu, Berna Polat Tüysüz   +5 more
wiley   +1 more source

Zika Virus Inoculation During Pregnancy Impaired Maternal Care and Altered Prolactin and Corticosterone Levels in Rats

Developmental Neurobiology, Volume 86, Issue 3, July 2026.
ABSTRACT Zika virus (ZIKV) is an Orthoflavivirus known for its teratogenicity and for causing congenital Zika syndrome (CZS) in the offspring, but recent studies suggest a negative impact on maternal brain health and behavior following gestational ZIKV inoculation.
Meirylanne Gomes‐da‐Costa, Adriana Souza dos Santos, Anna Luísa Lothhammer Bohn, Bruna Carolina de Castro Saturnino, Gabrielle Batista de Aguiar, Gabriela Barth Jacobs, Chris Krebs Danilevicz, Ana Paula Muterle Varela, Thais Fumaco Teixeira, Paulo Michel Roehe, Lenir Orlandi Pereira   +10 more
wiley   +1 more source

Clinical and Genetic Spectrum of Filippi Syndrome: A Systematic Review of Published Case Reports and Case Series

Health Science Reports, Volume 9, Issue 7, July 2026.
ABSTRACT Background and Aims Filippi syndrome is a very rare autosomal recessive craniodigital disorder primarily caused by mutations in the gene CKAP2L, characterized by syndactyly, microcephaly, growth retardation, distinctive craniofacial features, and intellectual disability.
Muhammad Anas Faheem, Laraib Ghanghro, Ayesha Khan, Maryam Khalid, Salwa Bashir, Dania Iqbal, Adan Ali, Hussain Haider Shah, Sameer Abdul Rauf, Humaira Kalam   +9 more
wiley   +1 more source

First Revision of the Guidelines for the Diagnosis and Management of Remethylation Disorders

Journal of Inherited Metabolic Disease, Volume 49, Issue 4, July 2026.
ABSTRACT This guideline summarizes diagnostic and therapeutic approaches based on a systematic literature review and evidence evaluation using the GRADE methodology. Given the limited high‐quality data, expert consensus was additionally obtained through a modified Delphi process.
Giorgia Olivieri, Andrea Bordugo, Birute Burnyte, Alessandro Costetti, Maria‐Luz Couce, Luisa Diogo, Francois Feillet, D. Sean Froese, Benedetta Greco, Jean‐Louis Gueant, Luciana Hannibal, Friederike Hörster, Viktor Kožich, Giancarlo La Marca, Irini Manoli, Fanny Mochel, Lorenzo Orazi, Belén Pérez, Manuel Schiff, Bernd C. Schwahn, Ida Schwartz, Karolina M. Stepien, Jolanta Sykut‐Cegielska, Trine Tangeraas, Rolf H. Zetterström, Carlo Dionisi‐Vici, Martina Huemer   +26 more
wiley   +1 more source

MICROCEPHALY– A NEURODEVELOPMENTAL HEREDITARY DISORDER WITH EMERGING DRIFTS OF ZIKV

FUUAST Journal of Biology, 2018
Autosomal recessive primary microcephaly (MCPH) is a rare, congenital, neurological condition with atavistic phenotype, usually distinguished by reduction in occipito-frontal head circumference strongly correlated with decreased cognitive capacity ...
RABIA BIBI, AYESHA MAQBOOL, SAMEA KHAN, JANGREZ KHAN   +3 more
doaj  

Vitamin‐Responsive Disorders: From Molecular Basis to Clinical Presentation and Therapy

Journal of Inherited Metabolic Disease, Volume 49, Issue 4, July 2026.
ABSTRACT Vitamin‐dependent cofactors are essential for numerous metabolic reactions, and defects affecting their uptake, conversion, utilisation, or regeneration constitute a heterogeneous group of inherited metabolic disorders (IMDs). Although dietary vitamin intake is sufficient to sustain coenzyme synthesis in healthy individuals, it is insufficient
Cécile Acquaviva, Yann Nadjar, Manuel Schiff, Christine Vianey‐Saban, Alain Fouilhoux, Jean‐François Benoist   +5 more
wiley   +1 more source

Expanding the MRPS34 Genotype–Phenotype Correlation: Two Novel Cases and a Cohort Review

JIMD Reports, Volume 67, Issue 4, July 2026.
ABSTRACT MRPS34 encodes a mitoribosomal protein essential for mitochondrial translation. Biallelic pathogenic variants in MRPS34 cause Combined Oxidative Phosphorylation Deficiency 32 (COXPD32), a rare mitochondrial disorder within the Leigh syndrome spectrum (LSS), ranging from fatal in infancy to adult survival.
Alberte Aspaas Lundquist, Sumit Parikh, Thomas van Overeem Hansen, Flemming Wibrand, Elsebet Østergaard   +4 more
wiley   +1 more source

Long‐Term Follow‐Up of Patients With Mitochondrial Carbonic Anhydrase VA Deficiency. A Case Report and Literature Review

JIMD Reports, Volume 67, Issue 4, July 2026.
ABSTRACT Mitochondrial carbonic anhydrase VA (CA‐VA) deficiency is a rare inherited metabolic disorder caused by biallelic variants of the CA5A gene. It presents with hyperammonemia, lactic acidosis, and ketonuria, with or without hypoglycemia. We report the long‐term follow‐up of the first two reported cases of CA‐VA deficiency: a 16‐year‐old female ...
Shaymaa Shurrab, Amira Mobarak, Gabriella Horvath, Sylvia Stocker‐Ipsiroglu, Clara van Karnebeek, Ramona Salvarinova‐Zivkovic   +5 more
wiley   +1 more source

Prenatal Diagnosis of a Fetus With Congenital Malformations Caused by Compound Heterozygous Mutations in FANCA: A Case Report and Literature Review

Molecular Genetics &Genomic Medicine, Volume 14, Issue 7, July 2026.
This study identified novel compound heterozygous mutations in the FANCA gene that underlie fetal limb‐kidney malformations. Through systematic reviews, we explore the relationship between FANC genotypes and malformation phenotypes, emphasizing the importance of considering Fanconi anemia in the prenatal diagnosis of structural abnormalities to ...
Zedong Yang, Yuchen Ma, Ju Wang, Jiangbo Qu, Shihua Cui, Dongyi Yu   +5 more
wiley   +1 more source

Heart Transplant for Noncompaction Cardiomyopathy in NONO‐Related Syndromic Intellectual Disability

Molecular Genetics &Genomic Medicine, Volume 14, Issue 7, July 2026.
Silent NONO variant c.348G>A caused exon 4 skipping, frameshift, and nonsense‐mediated decay in a boy with neurodevelopmental delay and severe left ventricular noncompaction requiring heart transplantation in early childhood. Stable graft function at 14 years highlights favorable long‐term cardiac outcome; literature review confirms a recognizable ...
Julia S. Singer, Dorota Garczarczyk‐Asim, Miriam Michel, Thomas Müller, Lukas Hackl, Andreas R. Janecke   +5 more
wiley   +1 more source