V. D. Der Kaloustian

发表

Integrative cortical dysfunction and pervasive motion perception deficit in fragile X syndrome

J. Faubert, J. Faubert, A. Chaudhuri, 2004, Neurology.

Perception of consanguineous marriages and their genetic effects among a sample of couples from Beirut.

M. Khlat, V. D. Der Kaloustian, A. Khudr, 1986, American journal of medical genetics.

A novel phenotypic pattern in X-linked inheritance: craniofrontonasal syndrome maps to Xp22.

M M Cohen, N H Robin, V Proud, 1997, Human molecular genetics.

Additional EFNB1 mutations in craniofrontonasal syndrome

E. Zackai, I. Kaitila, J. Mulliken, 2008, American journal of medical genetics. Part A.

Two novel fibrillin-2 mutations in congenital contractural arachnodactyly.

R. Pagon, V. D. Der Kaloustian, Guimei Zhou, 2000, American journal of medical genetics.

Genetic heterogeneity.

B. Childs, V. D. Der Kaloustian, 1968, The New England journal of medicine.

An initiator codon mutation in ornithine-delta-aminotransferase causing gyrate atrophy of the choroid and retina.

D. Valle, M. Kaiser-Kupfer, G. Mitchell, 1988, The Journal of clinical investigation.

The genetic defect in the de Sanctis-Cacchione syndrome.

V. D. Der Kaloustian, D. Bootsma, W. Kleijer, 1974, The Journal of investigative dermatology.

Hereditary retinoblastoma and 13q--mosaicism.

E. Traboulsi, V. D. Der Kaloustian, G. Dudin, 1984, Cytogenetics and cell genetics.

Portohepatic shunt in a Down syndrome patient with an interchange trisomy 47,XY,-2,+der(2),+der(21)t(2;21)(p13;q22.1)mat.

M. Vekemans, M. Kieran, V. D. Der Kaloustian, 1992, American journal of medical genetics.

DNA fingerprinting: the utilization of minisatellite probes to detect a somatic mutation in the proteus syndrome.

C. Schwartz, R. Saul, A. Brown, 1991, EXS.

Molecular analysis of Gaucher disease: screening of patients in the Montreal/Quebec region.

V. D. Der Kaloustian, F. Choy, M. Woo, 1991, American journal of medical genetics.

Molecular analysis of Gaucher disease in a Vietnamese-Czechoslovak patient with high residual glucocerebrosidase activity.

V. D. Der Kaloustian, F. Choy, M. Woo, 1991, American journal of medical genetics.

V. D. Der Kaloustian, M. Abboud, M. Deeb, 1984, American journal of human genetics.

Translocation between chromosomes 6 and 15 (45,XX,t(6;15)(q25;q11.2)) with further evidence for lack of imprinting of the insulin-like growth factor II/mannose-6-phosphate receptor in humans.

C. Polychronakos, M. Vekemans, V. D. Der Kaloustian, 1996, Journal of medical genetics.

Evidence for a fourth locus in Usher syndrome type I.

A. Munnich, D. Bonneau, V. D. Der Kaloustian, 1996, Journal of medical genetics.

Mutation analysis of the tumor suppressor PTEN and the glypican 3 (GPC3) gene in patients diagnosed with Proteus syndrome

W. Foulkes, C. Schwartz, I. Thiffault, 2004, American journal of medical genetics. Part A.

The autosomal recessive variety of congenital stationary night-blindness with myopia.

V. D. Der Kaloustian, S. A. Baghdassarian, 1972, Journal of medical genetics.

Juvenile hyaline fibromatosis: two new patients and review of the literature.

J. Opitz, V. D. Der Kaloustian, J. F. Reynolds, 1987, American journal of medical genetics.

Retinoblastoma in Lebanon.

E. Traboulsi, V. D. Der Kaloustian, G. Frangieh, 1986, Ophthalmic paediatrics and genetics.

Clonal lines of aneuploid cells in Rothmund-Thomson syndrome.

M. Vekemans, V. D. Der Kaloustian, J. Mcgill, 1990, American journal of medical genetics.

An intronic mutation in DKC1 in an infant with Høyeraal–Hreidarsson syndrome

A. Al-Eyadhy, S. Bale, S. Abish, 2008, American journal of medical genetics. Part A.

Brief clinical report and review: the Marden-Walker syndrome.

V. D. Der Kaloustian, M. Mikati, A. Afifi, 1982, American journal of medical genetics.

Acrodermatitis Enteropathica

V. D. Der Kaloustian, Z. H. Idriss, 1973, Clinical pediatrics.

Oral treatment of acrodermatitis enteropathica with zinc sulfate.

S. Sanjad, V. D. Der Kaloustian, Z. H. Idriss, 1976, American journal of diseases of children.

Prolidase deficiency: a multisystemic hereditary disorder.

V. D. Der Kaloustian, R. Bissonnette, R. Dubuc, 1993, Journal of the American Academy of Dermatology.

Not Camera-Marugo-Cohen syndrome but diploid/triploid mixoploidy.

V. D. Der Kaloustian, F. Andermann, D. Lambert, 2001, American journal of medical genetics.

Urogenital abnormalities in genetic disease.

V. D. Der Kaloustian, M. Seikaly, A. Barakat, 1986, The Journal of urology.

A de novo 2.1‐Mb deletion of 13q12.11 in a child with developmental delay and minor dysmorphic features

B. Rosenblatt, S. Aradhya, V. D. Der Kaloustian, 2011, American journal of medical genetics. Part A.

King syndrome: further clinical variability and review of the literature.

V. D. Der Kaloustian, K. Silver, G. Graham, 1998, American journal of medical genetics.

The molecular basis of beta-thalassemia in Lebanon: application to prenatal diagnosis.

Y. Kan, S. Deeb, F. Chehab, 1987, Blood.

Psychosocial and economic profile of a sample of families with thalassaemic children in Lebanon.

V. D. Der Kaloustian, I. Dabbous, A. Khudr, 1987, Journal of medical genetics.

Haploinsufficiency of HDAC4 causes brachydactyly mental retardation syndrome, with brachydactyly type E, developmental delays, and behavioral problems.

Stephen R. Williams, V. D. Der Kaloustian, H. Toriello, 2010, American journal of human genetics.

Unilateral radio-ulnar synostosis, generalized hypotonia, developmental retardation, and a characteristic facial appearance in sibs: a new syndrome.

V. D. Der Kaloustian, K. Silver, F. Halal, 1992, American journal of medical genetics.

U-type exchange in a paracentric inversion as a possible mechanism of origin of an inverted tandem duplication of chromosome 8.

M. Vekemans, V. D. Der Kaloustian, R. Sparkes, 1994, American journal of medical genetics.

Familial complex chromosome rearrangement giving rise to balanced and unbalanced recombination products.

V. D. Der Kaloustian, J. Batanian, L. Zahed, 1998, American journal of medical genetics.

Localization of the Usher syndrome type ID gene (Ush1D) to chromosome 10.

V. Sheffield, V. D. Der Kaloustian, J. Hejtmancik, 1996, Human molecular genetics.

Differential impact of the FMR1 gene on visual processing in fragile X syndrome.

K. Mullen, A. Chaudhuri, I. Boutet, 2003, Brain : a journal of neurology.

Silencing of CDKN1C (p57KIP2) is associated with hypomethylation at KvDMR1 in Beckwith–Wiedemann syndrome

C. Junien, W. Reik, V. D. Der Kaloustian, 2003, Journal of medical genetics.

The Russell-Silver syndrome: report of three siblings.

S. Najjar, V. D. Der Kaloustian, D. Fuleihan, 1971, The Journal of pediatrics.

A presumptive translocation 1p;2q resulting in duplication 1p and deletion 2q.

M. Vekemans, V. D. Der Kaloustian, F. Halal, 1989, American journal of medical genetics.

Familial multiple-level intestinal atresias: report of two siblings.

V. D. Der Kaloustian, H. Mishalany, 1971, The Journal of pediatrics.

Familial congenital duodenal atresia.

V. D. Der Kaloustian, M. Ghandour, H. Mishalany, 1970, Pediatrics.

Genetic diseases in Lebanon.

J. Loiselet, J. Naffah, V. D. Der Kaloustian, 1980, American journal of medical genetics.

Phenotypic manifestation in a child with 46,X,der(X)t(X;1)(q24;q31.1).

J. Ortenberg, A. Duncan, V. D. Der Kaloustian, 2000, American journal of medical genetics.

Possible common pathogenetic mechanisms for Poland sequence and Adams-Oliver syndrome.

A. Guttmacher, H. Hoyme, V. D. Der Kaloustian, 1991, American journal of medical genetics.

Maple syrup urine disease with increased intracranial pressure.

P. Benson, V. D. Der Kaloustian, M. Mikati, 1982, American journal of diseases of children.

The Rubinstein-Taybi Syndrome: A Clinical and Muscle Electron Microscopic Study

V. D. Der Kaloustian, A. Afifi, J. Mire, 1972 .

Atypical serum cholinesterase in a family with congenital distichiasis*

V. D. Der Kaloustian, K. Tabbara, H. Shammas, 2022 .

Deletion of 22q11 in two brothers with different phenotype.

A. Elliott, M. Shevell, V. D. Der Kaloustian, 1998, American journal of medical genetics.

The myopathic variety of arthrogryposis multiplex congenita: a disorder with autosomal recessive inheritance.

V. D. Der Kaloustian, A. Afifi, J. Mire, 1972, The Journal of pediatrics.

Usher syndrome in four siblings from a consanguineous family of Pakistani origin.

V. D. Der Kaloustian, M. Schloss, R. Polomeno, 1995, The Journal of Otolaryngology.

Phenotype of a patient with pure partial trisomy 2p(p23-->pter).

E. Lemyre, A. Duncan, M. Al-Saffar, 2000, American journal of medical genetics.

Skeletal and cardiac malformations with thrombocytopenia: a new syndrome?

A. Elliott, P. Kaplan, V. D. Der Kaloustian, 1996, American journal of medical genetics.

The Smith-Lemli-Opitz Syndrome

S. Najjar, V. D. Der Kaloustian, G. Khudr, 1977 .

Possible new variant of Nijmegen breakage syndrome.

A. Elliott, M. Vekemans, A. Auerbach, 1996, American journal of medical genetics.

Prenatal diagnosis of monosomy 1p36: A focus on brain abnormalities and a review of the literature

L. Shaffer, Philippe M. Campeau, V. D. Der Kaloustian, 2008, American journal of medical genetics. Part A.

Acrocephalopolysyndactyly, type II (Carpenter syndrome).

V. D. Der Kaloustian, S. Nassar, A. A. Sinno, 1972, American journal of diseases of children.

Tetralogy of Fallot with pulmonary atresia in siblings.

V. D. Der Kaloustian, F. Kutayli, M. Slim, 1985, American journal of medical genetics.

Unilateral radio‐ulnar synostosis, generalized hypotonia, and developmental delay with a characteristic facial appearance: A further case report

S. Aftimos, V. D. Der Kaloustian, P. Kannu, 2004, American journal of medical genetics. Part A.

Acute airway obstruction in Hunter syndrome.

A. Yoskovitch, V. D. Der Kaloustian, R. Brouillette, 1998, International journal of pediatric otorhinolaryngology.

Not a new MCA/MR syndrome but probably Costello syndrome?

V. D. Der Kaloustian, 1993, American journal of medical genetics.

Mutations in SCARF2 are responsible for Van Den Ende-Gupta syndrome.

Kevin C. H. Ha, J. Majewski, L. Jerome-Majewska, 2010, American journal of human genetics.

Knobloch syndrome involving midline scalp defect of the frontal region.

V. D. Der Kaloustian, R. Usher, R. Koenekoop, 2000, American journal of medical genetics.

Concentrically laminated membranous inclusions in myofibres of Dyggve-Melchior-Clausen syndrome.

V. D. Der Kaloustian, A. Afifi, J. Mire-Salman, 1974, Journal of the neurological sciences.

Familial spinocerebellar degeneration with corneal dystrophy.

M. Khoury, V. D. Der Kaloustian, M. Mikati, 1985, American journal of medical genetics.

Congenital ectodermal dysplasia with hearing loss.

V. D. Der Kaloustian, D. Mikaelian, N. A. Shahin, 1970, Archives of otolaryngology.

Prenatal tests for Sanfilippo disease type B in four pregnancies

V. D. Der Kaloustian, E. Young, J. Mossman, 1983, Prenatal Diagnosis.

A radiation hybrid map of 48 loci including the clouston hidrotic ectodermal dysplasia locus in the pericentromeric region of chromosome 13q.

A. Chakravarti, G. Rouleau, M. Chevrette, 1999, Genomics.

The gene responsible for Clouston hidrotic ectodermal dysplasia maps to the pericentromeric region of chromosome 13q.

B. Brais, G. Rouleau, Z. Kibar, 1996, Human molecular genetics.

Persistent hyperplastic primary vitreous and recessive oculo-dento-osseous dysplasia.

E. Traboulsi, V. D. Der Kaloustian, B. Faris, 1986, American journal of medical genetics.

A man, a syndrome, a gene: Clouston's hidrotic ectodermal dysplasia (HED).

V. D. Der Kaloustian, F. Fraser, 2001, American journal of medical genetics.

New form of hidrotic ectodermal dysplasia in a Lebanese family.

A. Mégarbané, V. D. Der Kaloustian, Z. Noujeim, 1998, American journal of medical genetics.

Duplication of 9q12-q33: a case report and implications for the dup(9q) syndrome.

S. Aymé, M. Vekemans, V. D. Der Kaloustian, 1993, American journal of medical genetics.

Clinical and biochemical characteristics of prolidase deficiency in siblings.

V. D. Der Kaloustian, H. Levy, M. Deeb, 1984, American journal of medical genetics.

Linkage analysis of the nail-patella syndrome.

W. Meschino, G. Rouleau, V. D. Der Kaloustian, 1995, American journal of human genetics.

Distichiasis of the lids and lymphedema of the lower extremities: a report of ten cases.

V. D. Der Kaloustian, H. Shammas, K. Tabbara, 1979, Journal of pediatric ophthalmology and strabismus.

Eye findings in interstitial deletion of band q12 of chromosome 5.

A. Mansour, E. Traboulsi, V. D. Der Kaloustian, 1984, Ophthalmic paediatrics and genetics.

Molecular analysis of collagen XVIII reveals novel mutations, presence of a third isoform, and possible genetic heterogeneity in Knobloch syndrome.

M. Passos-Bueno, J. Murray, B. Olsen, 2002, American journal of human genetics.

Apical hypertrophic cardiomyopathy in a father and daughter.

V. D. Der Kaloustian, J. Malouf, H. Ratl, 1985, American journal of medical genetics.

Waardenburg's recessive anophthalmia syndrome.

E. Traboulsi, V. D. Der Kaloustian, N. Jabbour, 1984, Ophthalmic paediatrics and genetics.

Possible common pathogenetic mechanisms for Poland sequence and Adams-Oliver syndrome: an additional clinical observation.

A. Guttmacher, H. Hoyme, V. D. Der Kaloustian, 1992, American journal of medical genetics.

Familial Congenital Duodenal Atresia (Continued)

V. D. Der Kaloustian, Mustafa H. Ghandour, Henry C. Mishalany, 1971, Pediatrics.

Compound heterozygous deletions of PMP22 causing severe Charcot‐Marie‐Tooth disease of the Dejerine‐Sottas disease phenotype

K. Al-Thihli, V. D. Der Kaloustian, C. Poulin, 2008, American journal of medical genetics. Part A.

Treacher Collins-Franceschetti syndrome with tracheoesophageal fistula, rectovaginal fistula, and anal atresia: variant, or new syndrome?

V. D. Der Kaloustian, F. Fraser, L. Robb, 1991, American journal of medical genetics.

Pelizaeus-Merzbacher disease in a family of Portuguese origin caused by a point mutation in exon 5 of the proteolipid protein gene.

V. D. Der Kaloustian, M. Hodes, S. Boyadjiev, 1995, American journal of medical genetics.

Leprechaunism. A report of two new cases.

S. Najjar, R. Takla, V. D. Der Kaloustian, 1971, American journal of diseases of children.

A new syndrome with craniofacial and skeletal dysmorphisms and developmental delay.

V. D. Der Kaloustian, T. Costa, K. Oudjhane, 2001, Clinical dysmorphology.

No mental retardation in a man with 40% abnormal methylation at the FMR-1 locus and transmission of sperm cell mutations as premutations.

F. Rousseau, V. D. Der Kaloustian, L. Robb, 1994, Human molecular genetics.

Congenital microcephaly, juvenile retinal dystrophy and normal mentation in a mildly dysmorphic child.

V. D. Der Kaloustian, R. Koenekoop, M. Barsoum-Homsy, 2005, Canadian journal of ophthalmology. Journal canadien d'ophtalmologie.

Renal tubular insufficiency, cholestatic jaundice, and multiple congenital anomalies--a new multisystem syndrome.

V. D. Der Kaloustian, M. Mikati, A. Barakat, 1984, Helvetica paediatrica acta.

Aminopterin-like syndrome sine aminopterin associated with translocation involving chromosomes 5 and 10.

M. Vekemans, V. D. Der Kaloustian, K. Meagher‐Villemure, 1990, American journal of medical genetics.

Schinzel-Giedion syndrome: further delineation of the phenotype.

A. Elliott, V. D. Der Kaloustian, K. Meagher‐Villemure, 1996, Clinical dysmorphology.

Hypergonadotropic hypogonadism with congestive cardiomyopathy: an autosomal-recessive disorder?

V. D. Der Kaloustian, H. Kanj, J. Malouf, 1985, American journal of medical genetics.

Unusual dicentric chromosome 22 associated with a 22q13 deletion

H. McDermid, V. D. Der Kaloustian, B. Chodirker, 2006, American journal of medical genetics. Part A.

Sandhoff disease: a prevalent form of infantile GM2 gangliosidosis in Lebanon.

M. Khoury, V. D. Der Kaloustian, F. Haddad, 1981, American journal of human genetics.

Genetic diseases of the skin: Progress and perspectives

R. Happle, V. D. Der Kaloustian, 2004, American journal of medical genetics. Part C, Seminars in medical genetics.

A mutation in the HSN2 gene causes sensory neuropathy type II in a Lebanese family

Jean-Baptiste Rivière, Dominique J Verlaan, Masoud Shekarabi, 2004, Annals of neurology.

Connexin mutation testing of children with nonsyndromic, autosomal recessive sensorineural hearing loss.

V. D. Der Kaloustian, T. Tewfik, M. A. Thomas, 2004, The Journal of otolaryngology.

Prolidase Deficiency

V. D. Der Kaloustian, B. Freij, 1986 .

Prolidase deficiency: an inborn error of metabolism with major dermatological manifestations.

V. D. Der Kaloustian, B. Freij, A. Kurban, 1982, Dermatologica.

The molecular basis of beta-thalassemia in Lebanon: application to prenatal diagnosis.

Y. Kan, S. Deeb, F. Chehab, 1987, Blood.

A new association of congenital hydrocephalus, albinism, megalocornea, and retinal coloboma in a syndromic child: A clinical and genetic study

V. D. Der Kaloustian, R. Koenekoop, S. Demczuk, 2000, Ophthalmic genetics.

The Smith-Lemli-Opitz syndrome. Report of a consanguineous Arab infant with bilateral focal renal dysplasia.

V. D. Der Kaloustian, G. Khudr, K. Akl, 1977, Clinical pediatrics.

Compound heterozygous deletions of PMP22 causing severe Charcot‐Marie‐Tooth disease of the Dejerine‐Sottas disease phenotype

K. Al-Thihli, V. D. Der Kaloustian, C. Poulin, 2008, American journal of medical genetics. Part A.

Muscular abnormality in xeroderma pigmentosum. High resolution light-microscopy and electron-microscopic observations.

V. D. Der Kaloustian, A. Afifi, J. Mire, 1972, Journal of the neurological sciences.