New Syndromes
2001 First Publications

Genetic Center
Filatov's Child Clinical Hospital © 2001-2004
Vladimir Solonichenko MD, Clinical Geneticist,©
E-mail:

06.16.2004

	REFERENCES - FIRST PUBLICATIONS 2001
1	Al-Enesi S, Huber AM, Krafchik BR, Laxer RM. - Inflammatory linear verrucous epidermal nevus and arthritis: A new association. J Pediatr 2001;138(4):602-4 (Abstract)
2	Amor DJ, Delatycki MB, Gardner RJMcK, Storey E. - New variant of familial cerebellar ataxia with hypergonadotropic hypogonadism and sensorineural deafness. Am J Med Genet, 2001, 99(1):29-33 (Abstract)
3	Askmark H, Eeg-Olofsson KE, Johansson A, Nilsson P, Olsson Y, Aquilonius S-M. Parkinsonism and Neck Extensor Myopathy. - A New Syndrome or Coincidental Findings? Arch Neurol. 2001;58(2):232-237 (Abstract)
4	Attia-Sobol J, Encha-Razavi F, Hermier M, Vitrey D, Verloes A, Plauchu H. - Lissencephaly type III, stippled epiphyses and loose, thick skin: A new recessively inherited syndrome. Am J Med Genet, 2001;99(1):14-20 (Abstract)
5	Castriota-Scanderbeg A, Dallapiccola B, Mingarelli R, Kozlowski K. - Distinctive metaphyseal chondrodysplasia simulating cartilage hair hypoplasia. Am J Med Genet, 2001; 99(4):289-293 (Abstract)
6	Chinnery PF, Johnson MA, Walls TJ, Gibson GJ, Fawcett PRW, Jamieson S, Fulthorpe JJ, Cullen M, Hudgson P, Bushby KMD. - A novel autosomal dominant distal myopathy with early respiratory failure: Clinico-pathologic characteristics and exclusion of linkage to candidate genetic loci. Ann Neurol 2001; 49(4):443-452 (Abstract)
7	Courville P, Thomine E, Surlemont Y, Hemet J, Metayer J, Lauret P. - Epidermal nevus associated with a type I neurofibromatosis and a nephroblastoma: a new epidermal nevus syndrome ? Ann Pathol 2000; 20(6):616-619 (Abstract)
8	de Vries BB, Lees M, Knight SJ, Regan R, Corney D, Flint J, Barnicoat A, Winter RM. - Submicroscopic 8pter deletion, mild mental retardation, and behavioral problems caused by a familial t(8;20)(p23;p13).Am J Med Genet 2001;99(4):314-319 (Abstract)
9	Delb W, Lipfert S, Henn W. - Mandibulofacial dysostosis, microcephaly and thorax deformities in two brothers: a new recessive syndrome? Clin Dysmorphol 2001; 10(2):105-119 (Abstract)
10	Der Kaloustian VM, Pelletier M, Costa T, Blackston DR, Oudjhane K. - A new syndrome with craniofacial and skeletal dysmorphisms and developmental delay. Clin Dysmorphol 2001;10(2):87-93 (Abstract)
11	Fatinni Y, Asindi A, Al Falki Y, Al Harthi A, Al Fifi S, Al-Daama S. - Possible new autosomal recessive syndrome of congenital lymphoedema, nail dystrophy and esotropia in a Saudi family. Acta Paediatr 2001;90(2):151-153 (Abstract)
12	Fernandez M, Raskind W, Wolff J, Matsushita M, Yuen E, Graf W, Lipe H, Bird T. - Familial dyskinesia and facial myokymia (FDFM): A novel movement disorder. Ann Neurol 2001;49(4):486-492 (Abstract)
13	Guschmann M, Horn D, Entezami M, Urban M, Hänel S, Kunze J, Vogel M. - Mesomelic campomelia, polydactyly and Dandy-Walker cyst in siblings. Prenatal Diagnosis 2001; 21(5):378-382 (Abstract)
14	Hadziselimovic F; Fliegel CH; Miny P. - A novel syndrome involving primary skeletal growth and retardation in siblings.Clin Dysmorphol 2001;10(1):33-36 (Abstract)
15	Hisama FM, Zemel S, Cherniske EM, Vladutiu GD, Pober BR. - 46,XX gonadal dysgenesis, short stature, and recurrent metabolic acidosis in two sisters. Am J Med Genet 2001;98(2):121-124 (Abstracts)
16	Hoffman HM, Bastian JF, Bird LM. - Humoral immunodeficiency with facial dysmorphology and limb anomalies: a new syndrome. Clin Dysmorphol 2001;10(1):1-8 (Abstract)
17	Inui K, Yanagihara K, Otani K, Suzuki Y, Akagi M, Nakayama M, Ida H, Okada S. - A new variant neuropathic type of Gaucher’s disease characterized by hydrocephalus, corneal opacities, deformed toes, and fibrous thickening of spleen and liver capsules. J Pediatr 2001;138(1):137-139 (Abstract)
18	Kantaputra PN, Eiumtrakul P, Matin T, Opastirakul S, Visrutaratna P, Mevate U. - Cryptophthalmos, dental and oral abnormalities, and brachymesophalangy of second toes: New syndrome or Fraser syndrome? Am J Med Gene 2001;98(3):263-268 (Abstract)
19	Kozlowski K, Posen S. - Malignant hypophosphathaemic bone disease. Eur J Radiol 2001;37(2):134-138 (Abstract)
20	Kuzuhara S, Kokubo Y, Sasaki R, Narita Y, Yabana T, Hasegawa M, Iwatsubo T. - Familial amyotrophic lateral sclerosis and parkinsonism-dementia complex of the Kii peninsula of Japan: Clinical and neuropathological study and tau analysis. Ann Neurol 2001;49(4):501-511 (Abstract)
21	LaDine BJ, Simmons JA, Shrimpton AE, Hoo JJ. - Syndrome of short stature, widow's peak, ptosis, posteriorly angulated ears, and joint problems: Exclusion of the Aarskog (FGD1) gene as a candidate gene. Am J Med Genet 2001;99(3):248-251 (Abstract)
22	Lammer EJ, Scholes T, Abrams L. - Autosomal recessive tetralogy of fallot, unusual facies, communicating hydrocephalus, and delayed language development: a new syndrome? Clin Dysmorphol 2001;10(1):9-13 (Abstract)
23	Launonen V, Vierimaa O, Kiuru M, Isola J, Roth S, Pukkala E, Sistonen P, Herva R, Aaltone LA. - Inherited susceptibility to uterine leiomyomas and renal cell cancer. Proc Natl Acad Sci (USA) 2001; 98(6):3387-3392 (Abstract)
24	Lemire EG, Stoeber GP, Anselmo M, Lowry RB. - Two brothers with severe developmental delay, growth retardation and unusual appearance. Clin Dysmorphol 2001;10(2):111-114 (Abstract)
25	Lev D, Watemberg N, Aviram A, Fishoff J, Antman E, Lerman-Sagie T. - Febrile convulsions, ataxia, developmental delay, and obesity: a new syndrome? J Child Neurol 2001;16(3):174-176 (Abstract)
26	Levy-Lahad E, Wildin RS. - Neonatal diabetes mellitus, enteropathy, thrombocytopenia, and endocrinopathy: Further evidence for an X-linked lethal syndrome. J Pediatr 2001;138(4):577-580 (Abstract)
27	Lin JC, Borregaard N, Liebman HA, Carmel R. - Deficiency of the specific granule proteins, R-binder/transcobalamin I and lactoferrin, in plasma and saliva: A new disorder. Am J Med Genet 2001;100(2):145-151 (Abstract)
28	Megarbane A. - A new familial syndrome with facial abnormalities, abnormal EEG, and mental retardation. Clin Dysmorphol 2001;10(2):129-133 (Abstract)
29	Mégarbané A, Waked N, Chouery E, Moglabey YB, Saliba N, Mornet E, Serre J-L, Slim R. - Microcephaly, cutis verticis gyrata of the scalp, retinitis pigmentosa, cataracts, sensorineural deafness, and mental retardation in two brothers. Am J Med Genet 2001;98(3):244-249 (Abstract)
30	Morimoto J, Kaneoka H, Murata T, Sato YN, Ogahara S, Hirose S, Naito S, Naritomi K. - Proximal symphalangism with coarse facial appearance, mixed hearing loss, and chronic renal failure: New malformation syndrome? Am J Med Genet 2001; 98(3):269-272 (Abstract)
31	Schelhaas HJ, Ippel PF, Hageman G, Sinke RG, van der Laan EN, Beemer FA. - Clinical and genetic analysis of a four-generation family with a distinct autosomal dominant cerebellar ataxia. Journal of Neurology, 2001; 248(2):113-120 (Abstract)
32	Schmidt H; Rudolph G; Hergersberg M; Schneider K; Moradi S; Meitinger T. - Retinal detachment and cataract, facial dysmorphism, generalized osteoporosis, immobile spine and platyspondyly in a consanguinous kindred - a possible new syndrome. Clin Genet 2001; 59(2):99-105 (Abstract)
33	Semerci CN, Bebitoglu I, Kacar A, Yurttagul S, Ercakmak S, Ertoy D, Ozaltin F, Balci S. - An unusual fetus with complete absence of thoracic, lumbar and sacral vertebrae, bilateral renal agenesis, VSD, meningomyelocele, imperforate anus, and teratoma. Clin Dysmorphol 2001;10(1):57-60 (Abstract)
34	Teebi AS; Druker HA. - Brachycephaly, cutis aplasia congenita, blue sclerae, hypertelorism, polydactyly, hypoplastic nipples, failure to thrive, and developmental delay: a distinct autosomal recessive syndrome? Clin Dysmorphol 2001;10(1):69-70 (Abstract)
35	Tuysuz B; Beker BD; Centel T; Ungur S; Iter O. - Unilateral tibial agenesia with preaxial polysyndactyly and renal disorder in two patients: a new syndrome? Clin Dysmorphol 2001;10(1):37-40 (Abstract)
36	Verhoeven NM, Jojanneke H. J. Huck JHJ, Roos B, Struys EA, Salomons GS, Douwes AC, van der Knaap MS, Jakobs C. - Transaldolase Deficiency: Liver Cirrhosis Associated with a New Inborn Error in the Pentose Phosphate Pathway. Am J Hum Genet 2001; 68:1086-1092 (Abstract)
37	Verloes A; Lesenfants S. - New syndrome: clavicle hypoplasia, facial dysmorphism, severe myopia, single central incisor and peripheral neuropathy. Clin Dysmorphol 2001;10(1):29-31(Abstract)