Genetic Center Filatov's Child Clinical Hospital © 2001-2004 Vladimir Solonichenko MD, Clinical Geneticist,© E-mail:
First Author - References ( Abstracts )
Atrouni - Leukodystrophy associated with oligodontia in a large inbred family
Basel-Vanagaite - New syndrome of simplified gyral pattern, micromelia, dysmorphic features and early death.
Ben-Zeev - Progressive cerebellocerebral atrophy-a new syndrome with microcephaly, mental retardation, and spastic quadriplegia ( J Med Genet 2003, 40, e96 )
Bernard - A Novel Developmental and Immunodeficiency Syndrome ...
Boyadjiev - A novel dysmorphic syndrome with open calvarial sutures and sutural cataracts maps to chromosome 14q13-q21
Boycott - A familial contiguous gene deletion syndrome at Xp22.3 characterized by severe learning disabilities and ADHD
Braddock - ...VATER-like defects, pulmonary hypertension, abnormal ears, blue sclera, laryngeal webs, and persistent growth deficiency
Caux - ... generalized lipoatrophy, insulin-resistant diabetes, disseminated leukomelanodermic papules, liver steatosis, and cardiomyopathy
Corona-Rivera - ... Mexican family with congenital palmar polyonychia and postaxial limb defects
De Brasi - New syndrome with generalized lipodystrophy and a distinctive facial appearance ...
deGrauw - The clinical syndrome of creatine transporter deficiency.
Demura - Completely Skewed X-Inactivation in a Mentally Retarded Young Female with Pseudohypoparathyroidism Type IB and Juvenile Renin-Dependent Hypertension
DeMyer - Vermian hypoplasia and arrested cerebral myelination in two sisters (PubMed)
Dumitrescu - A Novel Syndrome Combining Thyroid and Neurological Abnormalities ...
Eerola - Capillary Malformation Arteriovenous Malformation ... (Original)
Eerola - Capillary malformation-arteriovenous malformation ... (PubMed)
El-Shanti - Alopecia universalis congenita, XY gonadal dysgenesis and laryngomalacia ...
Ensenauer - Microduplication 22q11.2, an Emerging Syndrome
Graham - ...agenesis of the corpus callosum, mental retardation, coloboma, micrognathia ...
Gupta - Bilateral microphthalmia with cyst, facial clefts, and limb anomalies ...
Harris - Reversible Metaphyseal Dysplasia, a Novel Bone Phenotype, in Two Unrelated Children with Autoimmunepolyendocrinopathy-Candidiasis-Ectodermal Dystrophy
Hirata - Association of hereditary spherocytosis with familial adenomatous polyposis in a pedigree ...
Holve - Athabascan brainstem dysgenesis syndrome.
Hoover-Fong - Facial dysgenesis - a novel facial syndrome with chromosome 7 deletion p15.1-21.1.
Hwang - A new syndrome of hereditary congenital corneal opacities, cornea guttata, and corectopia.
James - Familial mitral valve prolapse associated with short stature, characteristic face, and sudden death
Jbour - Hypogonadotrophic hypogonadism, short stature, cerebellar ataxia, rod-cone retinal dystrophy, and hypersegmented neutrophils ...
Josephs - Neurofilament inclusion body disease - a new proteinopathy
Kantaputra - A new syndrome of symphalangism, multiple frenula, postaxial polydactyly, dysplastic ears, dental anomalies ...
Kondoh - Very long eyelashes, long eyebrows, sparse hair, and mental retardation in two unrelated boys ...
Lagrange - Rasmussen's syndrome and new-onset narcolepsy, cataplexy, and epilepsy in an adult (PubMed)
Landau - A new autosomal recessive congenital contractural syndrome in an Israeli Bedouin kindred
Lee - A novel syndrome of congenital lid and punctal anomalies, corneal and chorioretinal dystrophy
Leroy - A new type of autosomal recessive spondyloepiphyseal dysplasia tarda
Levy - Congenital myopathy, recurrent secretory diarrhea, bullous eruption of skin, microcephaly, and deafness
Magarbane - Post-natal short stature, short limbs, brachydactyly, facial abnormalities, and delayed bone age
Mazzanti - Noonan-like syndrome with loose anagen hair ...
Megarbane - A new dominant branchiogenic-deafness syndrome with internal auditory canal hypoplasia and abnormal extremities.
Megarbane - Child with overgrowth, pigmentary streaks, polydactyly, and intestinal lymphangiectasia ...
Megarbane - Unknown diagnosis in two male cousins with facial abnormalities, optic atrophy, abnormal EEG, and severe psychomotor retardation.
Morgan - Multiple follicular cysts, infundibular type with vellus hairs and solar elastosis of the ears ...
Mungan - Familial visceral myopathy with pseudo-obstruction, megaduodenum, Barrett's esophagus, and cardiac abnormalities
Nursal - Sporadic hereditary pancreatic desmoid tumor
Oktenli - Facial dysmorphism, multiple pigmented nevi, osteoporosis, brachydactyly, and other skeletal changes in a male
Parentin - Solitary median maxillary central incisor, Duane retraction syndrome, growth hormone deficiency and duplicated thumb phalanx ...
Rajab - Congenital generalized lipodystrophy, mental retardation, deafness, short stature, and slender bones ...
Reardon - Deafness associated with bilateral facial diplegia, ptosis and hypermobile joints ...
Rudolph - Spondylo-ocular syndrome - a new entity with crystalline lens malformation, cataract, retinal detachment, osteoporosis, and platyspondyly
Ruggieri - Scimitar vein anomaly with multiple cardiac malformations, craniofacial, and central nervous system abnormalities in a brother and sister ...
Salerno - Growth retardation, developmental delay, distinctive face, multiple endocrine abnormalities, and adenylyl cyclase dysfunction ...
Schwartz - Familial restrictive cardiomyopathy with skeletal abnormalities
Semerci - Is it a new syndrome or a clinical variability in cerebro-oculo-nasal syndrome
Sharma - A new syndrome of spondylo-epi-metaphyseal dysplasia - mixed type
Sicca - Subcortical band heterotopia with simplified gyral pattern and syndactyly.
Singh - Talo-patello-scaphoid osteolysis, synovitis, and short fourth metacarpals in sisters ...
Taha - Neonatal diabetes mellitus, congenital hypothyroidism, hepatic fibrosis, polycystic kidneys, and congenital glaucoma
Tan - Pulmonary atresia-ventricular septal defect associated with facial port-wine stain and retinal vascular abnormality
Tubbs - Chiari I malformation and caudal regression syndrome ...
Tuysuz - Short trunk stature, brachydactyly, and platyspondyly in three sibs ...
Verloes - Duane anomaly, congenital myopathy and severe scoliosis in sibs (PubMed)
Wahab - A new type of Ehlers-Danlos syndrome associated with tortuous systemic arteries ...
Wakeling - Septo-optic dysplasia, subglottic stenosis and skeletal abnormalities ...
Witters - Early onset asymmetrical intrauterine growth retardation with fetal hypokinesia and variable expression of acral and genitourinary malformations ...
