Physician
Medical Genetics
Dr. Mahin Golabi, MD
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Mahin Golabi is an expert in the field of Medical Genetics. She attended Tehran University of Medical Sciences School of Medicine. Mahin Golabi, MD is a published physician. She has 56 publications published. The most current publication "Severe congenital anomalies requiring transplantation in children with Kabuki syndrome."
Publications
- A new case of a LUMBAR syndrome.
- Duplication of C7orf58, WNT16 and FAM3C in an obese female with a t(7;22)(q32.1;q11.2) chromosomal translocation and clinical features resembling Coffin-Siris Syndrome.
- Tandem duplication mosaicism: characterization of a mosaic dup(5q) and review.
- A novel X-linked disorder of immune deficiency and hypohidrotic ectodermal dysplasia is allelic to incontinentia pigmenti and due to mutations in IKK-gamma (NEMO).
- Cardio-facio-cutaneous syndrome phenotype in an individual with an interstitial deletion of 12q: identification of a candidate region for CFC syndrome.
- Oculoauriculovertebral abnormalities in children of diabetic mothers.
- Mitochondrial respiratory chain complex I deficiency with clinical and biochemical features of long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency.
- Apparent cyclophosphamide (cytoxan) embryopathy: a distinct phenotype?
- Gastrointestinal tract anomalies in velocardiofacial syndrome.
- Severe congenital anomalies requiring transplantation in children with Kabuki syndrome.
- Congenital diaphragmatic defects and associated syndromes, malformations, and chromosome anomalies: a retrospective study of 60 patients and literature review.
- Costello syndrome: phenotype, natural history, differential diagnosis, and possible cause.
- Complex limbal choristomas in linear nevus sebaceous syndrome.
- True trisomy 2 mosaicism in amniocytes and newborn liver associated with multiple system abnormalities.
- Otolaryngologic manifestations of Kabuki syndrome.
- Chromosome 22q11.2 microdeletions in velocardiofacial syndrome patients with widely variable manifestations.
- Simpson-Golabi-Behmel syndrome: genotype/phenotype analysis of 18 affected males from 7 unrelated families.
- Fibroblast growth factor receptor 2 mutations in Beare-Stevenson cutis gyrata syndrome.
- Mental retardation locus in Xp21 chromosome microdeletion.
- Simpson-Golabi-Behmel syndrome: congenital diaphragmatic hernia and radiologic findings in two patients and follow-up of a previously reported case.
- Facial features of infants exposed prenatally to cocaine.
- Trichothiodystrophy: clinical spectrum, central nervous system imaging, and biochemical characterization of two siblings.
- Parietal foramina clavicular hypoplasia. An autosomal dominant syndrome.
- A new X-linked multiple congenital anomalies/mental retardation syndrome.
- A new X-linked mental retardation-overgrowth syndrome.
- Emery-Dreifuss muscular dystrophy with autosomal dominant transmission.
- The lethal multiple pterygium syndromes: is prenatal detection possible?
- Smith-Lemli-Opitz syndrome-type II: multiple congenital anomalies with male pseudohermaphroditism and frequent early lethality.
- Neuroblastoma in Duchenne muscular dystrophy.
- Upper airway obstruction in infants with fetal alcohol syndrome.
- Craniosynostosis and hydrocephalus.
- Alopecia-anosmia-deafness-hypogonadism syndrome revisited: report of a new case.
- Nonimmune hydrops fetalis may be associated with an elevated delta OD450 in the amniotic fluid.
- Sperm chromosome analysis to assess potential germ cell mosaicism.
- Thanatophoric dysplasia and cloverleaf skull.
- Pediatric neurosurgical implications of the amniotic band disruption complex. Case reports and review of the literature.
- Chance vs. causality in the association of Down syndrome and holoprosencephaly.
- Expanded phenotype and ethnicity in Setleis syndrome.
- Multiple congenital anomalies in a child born after prenatal diagnosis of trisomy 20 mosaicism.
- Histologic evaluation of the coronal sutures in trigonocephaly.
- Pallister-Hall syndrome associated with an unbalanced chromosome translocation.
- Abnormalities of the visual system in infants exposed to cocaine.
- Beare-Stevenson cutis gyrata syndrome.
- Hypo-hyperparathyroidism: evidence for a defective parathyroid hormone.
- Fatality in paraquat poisoning.
- Novel duplication in glypican-4 as an apparent cause of Simpson-Golabi-Behmel syndrome.
- Tissue-limited mosaicism for monosomy 13.
- Novel FGFR2 deletion in a patient with Beare-Stevenson-like syndrome.
- Gardner-Silengo-Wachtel or genito-palato-cadiac syndrome with associated autosomal aneuploidy.
- DOOR syndrome: clinical report, literature review and discussion of natural history.
- Bifid tongue: a rare feature associated with infants of diabetic mother syndrome.
- Marinesco-Sjögren syndrome in a male with mild dysmorphism.
- A tribute to Bryan D. Hall: Festschrift 2003.
- Fertility in a female with mosaic trisomy 8.
- Mutations in PATCHED-1, the receptor for SONIC HEDGEHOG, are associated with holoprosencephaly.
Schools
Tehran University Of Medical Sciences amp Health Services
University Hospitals Case Medical Center
Children39s Hospital Of Oakland
Ucsf Medical Center
Univ Of California Davis Medical Center
Doctors Specialties
- Clinical Genetics
- Pediatrics
- Medical Genetics
Accepted Insurances
Education
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University of California Davis -
Tehran University of Medical Sciences School of Medicine
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