Search Results - "Cavaliere, M L"

Autosomal recessive familial exudative vitreoretinopathy: evidence for genetic heterogeneity by de Crecchio, Giuseppe, Simonelli, Francesca, Nunziata, Giuseppe, Mazzeo, Salvatore, Greco, Giovanni Maria, Rinaldi, Ernesto, Ventruto, Valerio, Ciccodicola, Alfredo, Miano, Maria Giuseppina, Testa, Francesco, Curci, Anna, D'Urso, Michele, Rinaldi, Maria Michela, Cavaliere, Maria Luigia, Castelluccio, Pia

“…Two unrelated families with familial exudative vitreoretinopathy (FEVR) show apparent autosomal recessive inheritance rather than the previously reported…”
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A mutation in the pleckstrin homology (PH) domain of the FGD1 gene in an Italian family with faciogenital dysplasia (Aarskog–Scott syndrome) by Orrico, Alfredo, Galli, Lucia, Falciani, Michela, Bracci, Martina, Cavaliere, Maria Luigia, Rinaldi, Maria Michela, Musacchio, Andrea, Sorrentino, Vincenzo

“…Aarskog–Scott Syndrome (AAS) is an X-linked disorder characterised by short stature and multiple facial, limb and genital abnormalities. A gene, FGD1, altered…”
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Abnormal B.A.E.P. in a family with Moebius syndrome: evidence for supranuclear lesion by Stabile, M, Cavaliere, M L, Scarano, G, Fels, A, Valiani, R, Ventruto, V

“…A family with Moebius syndrome is presented. Neurological lesions in the affected members are various: complete VI and VII cranial nerves palsy associated with…”
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Study of a form of pulverulent cataract in a large kindred by Stabile, M, Amoriello, A, Capobianco, S, Cavaliere, M L, Conte, N, De Rosa, C, Ruoppo, S, Sorrentino, V, Ventruto, V

“…A large kindred (64 members in four generations), affected by a form of apparently congenital pulverulent cataract, was studied for linkage of its gene locus…”
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Ring (13),t(2;6) associated with familial fragile (16) by Ventruto, V, Rinaldi, A, Renda, S, Stabile, M, Rinaldi, M M, Cavaliere, M L, Conte, N, Aveta, V

“…At the age of 2 months the proband was microcephalic with a large anterior fontanelle. The facies was peculiar with a prominent nasal bridge, hypertelorism,…”
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Characterization of a Novel Alu‐Alu Recombination‐Mediated Genomic Deletion in the TCIRG1 Gene in Five Osteopetrotic Patients by Pangrazio, Alessandra, Caldana, Maria Elena, Sobacchi, Cristina, Panaroni, Cristina, Susani, Lucia, Mihci, Ercan, Cavaliere, Maria Luigia, Giliani, Silvia, Villa, Anna, Frattini, Annalisa

“…Human malignant autosomal recessive osteopetrosis (ARO) is a genetically heterogeneous disorder caused by reduced bone resorption by osteoclasts. Biallelic…”
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Multiple skeletal familial abnormalities associated with balanced reciprocal translocation 2;8(q32;p13) by Ventruto, V, Pisciotta, R, Renda, S, Festa, B, Rinaldi, M M, Stabile, M, Cavaliere, M L, Esposito, M

“…A father and three of his offspring had skeletal abnormalities consisting of a short forearm, cubitus valgus, fusion of first and second cervical vertebrae,…”
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Primary protrusio acetabuli in four generations of an Italian family by Ventruto, V, Stabile, M, Cavaliere, M L, Pagano, L, Fioretti, G, Celona, A

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Autosomal dominant inheritance of Gerhardt's syndrome in three generations of a family by Morelli, G, Mesolella, C, Cavaliere, M L, Stabile, M, Ventruto, V

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A and B postaxial polydactyly in two members of the same family by Ventruto, V, Theo, G, Celona, A, Fioretti, G, Pagano, L, Stabile, M, Cavaliere, M L

“…Two cases of previously unreported simultaneous presence of A and B postaxial polydactyly in two brothers out of 12 affected members of a kindred are reported…”
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Phenotypic and molecular characterisation of the Aarskog-Scott syndrome: a survey of the clinical variability in light of FGD1 mutation analysis in 46 patients by ORRICO, Alfredo, GALLI, Lucia, CAVALIERE, Maria Luigia, GARAVELLI, Livia, FRYNS, Jean-Pierre, CRUSHELL, Ellen, RINALDI, Maria Michela, MEDEIRA, Ana, SORRENTINO, Vincenzo

“…Faciogenital dysplasia or Aarskog-Scott syndrome (AAS) is a genetically heterogeneous developmental disorder. The X-linked form of AAS has been ascribed to…”
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Prehospital rapid sequence intubation in severe traumatic brain injury: a retrospective analysis by Belezia, BF, Antunes, AP, de Oliveira, AM, Gomes, DT, Silva, EN, de Carvalho, FB, Neves, LFM, Leite, MTT, Cavaliere, ML, Moura, AD

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An Italian family affected by autosomal dominant microcephaly with chorioretinal degeneration by SIMONELLI, Francesca, TESTA, Francesco, NESTI, Anna, DE CRECCHIO, Giuseppe, BIFANI, Mario, CAVALIERE, Maria Luisa, RINALDI, Ernesto, RINALDI, Maria Michela

“…We studied an Italian family affected by the autosomal dominant form of microcephaly and chorioretinal degeneration that was characterized by various degrees…”
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Phenotypic variability in the chromosome 9 ring by Cavaliere, M L, Rinaldi, M M, Castelluccio, P, Cioffi, C, Vendemmia, M, Vendemmia, S

“…The syndrome associated to the 9 ring is not commonly observed. The first remark was by Kistenmacher (1970) who examined a male. Later observation of other…”
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XXXXY syndrome: clinical-radiological findings in one patient (author's transl) by Ventruto, V, Pisciotta, R, Celona, A, Cavaliere, M L, Pagano, L, Stabile, M, Fioretti, G, Togo, F

“…A case of XXXXY syndrome in a 15 year old male is reported. Clinical findings (mental retardation, muscular hypotonia, hypogonadism, characteristic facies),…”
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Severe mental retardation and slight dysmorphism in a child with a bisatellite extrachromosome: inversion duplication (15)? by Rinaldi, M M, Militerni, R, Pascotto, A, Scarano, G, Renda, S, Cavaliere, M L, Santulli, B, Esposito, M, Ventruto, V

“…A de novo tetrasomy 15 has been reported, in a 6 years old child. The patient had severe mental retardation an minimal physical stigmata, consisting in slight…”
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Aarskog's syndrome (facial-digital-genital syndrome). Study of a family (author's transl) by Scarano, G, Rinaldi, M M, Cavaliere, M L, Esposito, M, Sicolo, A, Santulli, B, Stabile, M, Fasano, R, Ventruto, V

“…A case of Aarskog syndrome in a 6-years old boy is reported. The patient showed clinical pictures typical of the syndrome: characteristic dysmorphic facies,…”
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Primary protrusio acetabuli in four generations of an Italian family by Ventruto, V, Stabile, M, Cavaliere, M L, Pagano, L, Fioretti, G, Celona, A

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Observation of 7 cases of rare autosomal pathology. Trisomy 9p; monosomy 18q; ring 21; trisomy 6p; trisomy 2q 1-21 translocation by Fioretti, G, Pagano, L, Renda, S, Festa, B, Rinaldi, A, Celona, A, Casullo, C, Stabile, M, Cavaliere, M L, Ventruto, V

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Phenotype anomalies in subjects with balanced chromosome translocation. Presentation of 4 cases by Ventruto, V, Festa, B, Renda, S, Stabile, M, Rinaldi, A, Rinaldi, M M, Cavaliere, M L, Lonardo, F, Garofalo, S

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