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Papers authored by Bottani A

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Alexander disease: Early presence of cerebral MRI criteria.

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Poloni CB, Ferey S, Haenggeli CA, Delavelle J, Bottani A, Salomons GS, Van Der Knaap MS, and Korff CM

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society 13(6):556-8, 2009 Nov - Who cited this? | PubMed ID: 19128991 | Fulltext

Quantitative sequence analysis of FBN1 premature termination codons provides evidence for incomplete NMD in leukocytes.

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Magyar I, Colman D, Arnold E, Baumgartner D, Bottani A, Fokstuen S, Addor MC, Berger W, Carrel T, Steinmann B, and Mátyás G

Human mutation 30(9):1355-64, 2009 Sep - Who cited this? | PubMed ID: 19618372 | Fulltext

Nicolaides-Baraitser syndrome: Delineation of the phenotype.

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Sousa SB, Abdul-Rahman OA, Bottani A, Cormier-Daire V, Fryer A, Gillessen-Kaesbach G, Horn D, Josifova D, Kuechler A, Lees M, MacDermot K, Magee A, Morice-Picard F, Rosser E, Sarkar A, Shannon N,

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American journal of medical genetics. Part A 149A(8):1628-40, 2009 Aug - Who cited this? | PubMed ID: 19606471 | Fulltext

Genotype-phenotype correlations in Down syndrome identified by array CGH in 30 cases of partial trisomy and partial monosomy chromosome 21.

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Lyle R, Béna F, Gagos S, Gehrig C, Lopez G, Schinzel A, Lespinasse J, Bottani A, Dahoun S, Taine L, Doco-Fenzy M, Cornillet-Lefèbvre P, Pelet A, Lyonnet S, Toutain A, Colleaux L,

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European journal of human genetics : EJHG 17(4):454-66, 2009 Apr - Who cited this? | PubMed ID: 19002211 | Fulltext

Subtelomeric 6p deletion: Clinical and array-CGH characterization in two patients.

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Martinet D, Filges I, Besuchet Schmutz N, Morris MA, Gaide AC, Dahoun S, Bottani A, Addor MC, Antonarakis SE, Beckmann JS, and Béna F

American journal of medical genetics. Part A, 2008 Jul 15 - Who cited this? | PubMed ID: 18629875 | Fulltext

Association of multiple vertebral hemangiomas and severe paraparesis in a patient with a PTEN hamartoma tumor syndrome. Case report.

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Jenny B, Radovanovic I, Haenggeli CA, Delavelle J, Rüfenacht D, Kaelin A, Blouin JL, Bottani A, and Rilliet B

Journal of neurosurgery 107(4 Suppl):307-13, 2007 Oct - Who cited this? | PubMed ID: 17941496 | Fulltext

Unilateral focal polymicrogyria in a patient with classical Aarskog-Scott syndrome due to a novel missense mutation in an evolutionary conserved RhoGEF domain of the faciogenital dysplasia gene FGD1.

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Bottani A, Orrico A, Galli L, Karam O, Haenggeli CA, Ferey S, and Conrad B

American journal of medical genetics. Part A 143(19):2334-8, 2007 Oct 1 - Who cited this? | PubMed ID: 17847065 | Fulltext

A de novo 1.1-1.6 Mb subtelomeric deletion of chromosome 20q13.33 in a patient with learning difficulties but without obvious dysmorphic features.

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Béna F, Bottani A, Marcelli F, Sizonenko LD, Conrad B, and Dahoun S

American journal of medical genetics. Part A 143(16):1894-9, 2007 Aug 15 - Who cited this? | PubMed ID: 17632785 | Fulltext

Expanding the phenotype of fragile X-associated tremor/ataxia syndrome: a new female case.

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Horvath J, Burkhard PR, Morris M, Bottani A, Moix I, and Delavelle J

Movement disorders : official journal of the Movement Disorder Society 22(11):1677-8, 2007 Aug 15 - Who cited this? | PubMed ID: 17516494 | Fulltext

Haploinsufficiency of TCF4 causes syndromal mental retardation with intermittent hyperventilation (Pitt-Hopkins syndrome).

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Zweier C, Peippo MM, Hoyer J, Sousa S, Bottani A, Clayton-Smith J, Reardon W, Saraiva J, Cabral A, Gohring I, Devriendt K, de Ravel T, Bijlsma EK, Hennekam RC, Orrico A, Cohen M,

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American journal of human genetics 80(5):994, 2007 May - Who cited this? | PubMed ID: 17436255 | Fulltext

Sequence variation in ultraconserved and highly conserved elements does not cause X-linked mental retardation.

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Bottani A, Chelly J, de Brouwer AP, Pardo B, Barker M, Capra V, Bartoloni L, Antonarakis SE, and Conrad B

American journal of medical genetics. Part A 143A(8):888, 2007 Apr 15 - Who cited this? | PubMed ID: 17352392 | Fulltext

Genomewide linkage scan for split-hand/foot malformation with long-bone deficiency in a large Arab family identifies two novel susceptibility loci on chromosomes 1q42.2-q43 and 6q14.1.

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Naveed M, Nath SK, Gaines M, Al-Ali MT, Al-Khaja N, Hutchings D, Golla J, Deutsch S, Bottani A, Antonarakis SE, Ratnamala U, and Radhakrishna U

American journal of human genetics 80(1):105-11, 2007 Jan - Who cited this? | PubMed ID: 17160898 | Fulltext

MECP2 mutant allele in a boy with Rett syndrome and his unaffected heterozygous mother.

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Dayer AG, Bottani A, Bouchardy I, Fluss J, Antonarakis SE, Haenggeli CA, and Morris MA

Brain & development 29(1):47-50, 2007 Jan - Who cited this? | PubMed ID: 16844334 | Fulltext

Tibial aplasia-hypoplasia and ectrodactyly in monozygotic twins with a discordant phenotype.

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Dayer R, Ceroni D, Bottani A, and Kaelin A

Journal of pediatric orthopedics 27(3):266-9, 2007 - Who cited this? | PubMed ID: 17414007 | Fulltext

Prenatal diagnostic indicators of paternal uniparental disomy 14.

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Curtis L, Antonelli E, Vial Y, Rimensberger P, Le Merrer M, Hinard C, Bottani A, and Fokstuen S

Prenatal diagnosis 26(8):662-6, 2006 Aug - Who cited this? | PubMed ID: 16715538 | Fulltext

Ectrodactyly with aplasia of long bones (OMIM; 119100) in a large inbred Arab family with an apparent autosomal dominant inheritance and reduced penetrance: clinical and genetic analysis.

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Naveed M, Al-Ali MT, Murthy SK, Al-Hajali S, Al-Khaja N, Deutsch S, Bottani A, Antonarakis SE, Nath SK, and Radhakrishna U

American journal of medical genetics. Part A 140(13):1440-6, 2006 Jul 1 - Who cited this? | PubMed ID: 16688753 | Fulltext

No major contribution of the TGFBR1- and TGFBR2-mediated pathway to Kabuki syndrome.

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Bottani A, Pardo B, Bouchardy I, Schoumans J, Toutain A, and Conrad B

American journal of medical genetics. Part A 140(8):903-5, 2006 Apr 15 - Who cited this? | PubMed ID: 16528739 | Fulltext

Two high throughput technologies to detect segmental aneuploidies identify new Williams-Beuren syndrome patients with atypical deletions.

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Howald C, Merla G, Digilio MC, Amenta S, Lyle R, Deutsch S, Choudhury U, Bottani A, Antonarakis SE, Fryssira H, Dallapiccola B, and Reymond A

Journal of medical genetics 43(3):266-73, 2006 Mar - Who cited this? | PubMed ID: 15994861 | Fulltext

Detection of heterozygous SALL1 deletions by quantitative real time PCR proves the contribution of a SALL1 dosage effect in the pathogenesis of Townes-Brocks syndrome.

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Borozdin W, Steinmann K, Albrecht B, Bottani A, Devriendt K, Leipoldt M, and Kohlhase J

Human mutation 27(2):211-2, 2006 Feb - Who cited this? | PubMed ID: 16429401 | Fulltext

Morphological, clinical and genetic aspects in a family with a novel LAMP-2 gene mutation (Danon disease).

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Lobrinus JA, Schorderet DF, Payot M, Jeanrenaud X, Bottani A, Superti-Furga A, Schlaepfer J, Fromer M, and Jeannet PY

Neuromuscular disorders : NMD 15(4):293-8, 2005 Apr - Who cited this? | PubMed ID: 15792868 | Fulltext

Identification of mutations in TCOF1: use of molecular analysis in the pre- and postnatal diagnosis of Treacher Collins syndrome.

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Dixon J, Ellis I, Bottani A, Temple K, and Dixon MJ

American journal of medical genetics. Part A 127(3):244-8, 2004 Jun 15 - Who cited this? | PubMed ID: 15150774 | Fulltext

Cornelia de Lange syndrome is caused by mutations in NIPBL, the human homolog of Drosophila melanogaster Nipped-B.

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Krantz ID, McCallum J, DeScipio C, Kaur M, Gillis LA, Yaeger D, Jukofsky L, Wasserman N, Bottani A, Morris CA, Nowaczyk MJ, Toriello H, Bamshad MJ, Carey JC, Rappaport E, Kawauchi S,

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Nature genetics 36(6):631-5, 2004 Jun - Who cited this? | PubMed ID: 15146186 | Fulltext

Confirmation of the type 2 myotonic dystrophy (CCTG)n expansion mutation in patients with proximal myotonic myopathy/proximal myotonic dystrophy of different European origins: a single shared haplotype indicates an ancestral founder effect.

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Bachinski LL, Udd B, Meola G, Sansone V, Bassez G, Eymard B, Thornton CA, Moxley RT, Harper PS, Rogers MT, Jurkat-Rott K, Lehmann-Horn F, Wieser T, Gamez J, Navarro C, Bottani A,

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American journal of human genetics 73(4):835-48, 2003 Oct - Who cited this? | PubMed ID: 12970845 | Fulltext

Telomeric 22q13 deletions resulting from rings, simple deletions, and translocations: cytogenetic, molecular, and clinical analyses of 32 new observations.

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Luciani JJ, de Mas P, Depetris D, Mignon-Ravix C, Bottani A, Prieur M, Jonveaux P, Philippe A, Bourrouillou G, de Martinville B, Delobel B, Vallee L, Croquette MF, and Mattei MG

Journal of medical genetics 40(9):690-6, 2003 Sep - Who cited this? | PubMed ID: 12960216 | Fulltext

[How should a muscular disease be studied?].

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Kohler A, Bader C, Bernheim L, Bottani A, Estade M, Garcia JF, Haenggeli CA, Pizzolato GP, and Magistris MR

Revue medicale de la Suisse romande 123(1):45-9, 2003 Jan - Who cited this? | PubMed ID: 15095727 | Fulltext

Thrombocytopenia-absent radius syndrome: a clinical genetic study.

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Greenhalgh KL, Howell RT, Bottani A, Ancliff PJ, Brunner HG, Verschuuren-Bemelmans CC, Vernon E, Brown KW, and Newbury-Ecob RA

Journal of medical genetics 39(12):876-81, 2002 Dec - Who cited this? | PubMed ID: 12471199 | Fulltext

Hypoparathyroidism associated with aneurysm of the left subclavian artery (Kommerell's diverticulum) in an adult patient with a chromosome 22q11.2 deletion.

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Trombetti A, Bottani A, George F, and Rizzoli R

Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research 16(10):1926-8, 2001 Oct - Who cited this? | PubMed ID: 11585359 | Fulltext

Exclusion of linkage to the CDL1 gene region on chromosome 3q26.3 in some familial cases of Cornelia de Lange syndrome.

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Krantz ID, Tonkin E, Smith M, Devoto M, Bottani A, Simpson C, Hofreiter M, Abraham V, Jukofsky L, Conti BP, Strachan T, and Jackson L

American journal of medical genetics 101(2):120-9, 2001 Jun 15 - Who cited this? | PubMed ID: 11391654 | Fulltext

Three novel SALL1 mutations extend the mutational spectrum in Townes-Brocks syndrome.

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Blanck C, Kohlhase J, Engels S, Burfeind P, Engel W, Bottani A, Patel MS, Kroes HY, and Cobben JM

Journal of medical genetics 37(4):303, 2000 Apr - Who cited this? | PubMed ID: 10819639 | Fulltext

Proximal myotonic myopathy: clinical, electrophysiological and pathological findings in a family.

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Kohler A, Burkhard P, Hefft S, Bottani A, Pizzolato GP, and Magistris MR

European neurology 43(1):50-3, 2000 - Who cited this? | PubMed ID: 10601809 | Fulltext

Early fatal pontocerebellar hypoplasia in premature twin sisters.

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Chaves-Vischer V, Pizzolato GP, Hanquinet S, Maret A, Bottani A, and Haenggeli CA

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society 4(4):171-6, 2000 - Who cited this? | PubMed ID: 11008260 | Fulltext

[Blepharophimosis-ptosis-epicanthus inversus associated with infertility].

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Morales M, Chardonnens D, Bottani A, Gersbach-Forrer M, and Campana A

Journal de gynecologie, obstetrique et biologie de la reproduction 28(8):833-7, 1999 Dec - Who cited this? | PubMed ID: 10635488 | Fulltext

The phenotypic spectrum of GLI3 morphopathies includes autosomal dominant preaxial polydactyly type-IV and postaxial polydactyly type-A/B; No phenotype prediction from the position of GLI3 mutations.

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Radhakrishna U, Bornholdt D, Scott HS, Patel UC, Rossier C, Engel H, Bottani A, Chandal D, Blouin JL, Solanki JV, Grzeschik KH, and Antonarakis SE

American journal of human genetics 65(3):645-55, 1999 Sep - Who cited this? | PubMed ID: 10441570 | Fulltext

MEHMO, a novel syndrome: assignment of disease locus to Xp21.1-p22.13. Mental retardation, epileptic seizures, hypogonadism and genitalism, microcephaly, obesity.

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DeLozier-Blanchet CD, Haenggeli CA, and Bottani A

European journal of human genetics : EJHG 7(6):621-2, 1999 Sep - Who cited this? | PubMed ID: 10482947 | Fulltext

[The pediatrician's role in the evaluation of a "dysmorphic" child].

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Bottani A

Revue medicale de la Suisse romande 119(2):107-9, 1999 Feb - Who cited this? | PubMed ID: 10091546 | Fulltext

Early-onset familial dilatation of the ascending aorta.

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Beghetti M, Steinmann B, Didier D, Kalangos A, and Bottani A

Cardiology 92(1):68-70, 1999 - Who cited this? | PubMed ID: 10640800 | Fulltext

Pure partial trisomy 5q33-->5q35 resulting from the adjacent-1 segregation of a paternal (5;14)(q33;p12) translocation.

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Paoloni-Giacobino A, Bottani A, and Dahoun SP

Annales de genetique 42(3):166-9, 1999 - Who cited this? | PubMed ID: 10526660 | Fulltext

Mutations of PTEN in patients with Bannayan-Riley-Ruvalcaba phenotype.

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Longy M, Coulon V, Duboué B, David A, Larrègue M, Eng C, Amati P, Kraimps JL, Bottani A, Lacombe D, and Bonneau D

Journal of medical genetics 35(11):886-9, 1998 Nov - Who cited this? | PubMed ID: 9832032 | Fulltext

A PCR amplification method reveals instability of the dodecamer repeat in progressive myoclonus epilepsy (EPM1) and no correlation between the size of the repeat and age at onset.

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Lalioti MD, Scott HS, Genton P, Grid D, Ouazzani R, M'Rabet A, Ibrahim S, Gouider R, Dravet C, Chkili T, Bottani A, Buresi C, Malafosse A, and Antonarakis SE

American journal of human genetics 62(4):842-7, 1998 Apr - Who cited this? | PubMed ID: 9529356 | Fulltext

Laryngeal atresia type III (glottic web) with 22q11.2 microdeletion: report of three patients.

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Fokstuen S, Bottani A, Medeiros PF, Antonarakis SE, Stoll C, and Schinzel A

American journal of medical genetics 70(2):130-3, 1997 May 16 - Who cited this? | PubMed ID: 9128930 | Fulltext

Dodecamer repeat expansion in cystatin B gene in progressive myoclonus epilepsy.

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Lalioti MD, Scott HS, Buresi C, Rossier C, Bottani A, Morris MA, Malafosse A, and Antonarakis SE

Nature 386(6627):847-51, 1997 Apr 24 - Who cited this? | PubMed ID: 9126745 | Fulltext

Mitochondrial anomalies in a Swiss family with autosomal dominant myoglobinuria.

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Martin-Du Pan RC, Morris MA, Favre H, Junod A, Pizzolato GP, and Bottani A

American journal of medical genetics 69(4):365-9, 1997 Apr 14 - Who cited this? | PubMed ID: 9098484 | Fulltext

Coloboma, mental retardation, hypogonadism, and obesity: critical review of the so-called Biemond syndrome type 2, updated nosology, and delineation of three "new" syndromes.

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Verloes A, Temple IK, Bonnet S, and Bottani A

American journal of medical genetics 69(4):370-9, 1997 Apr 14 - Who cited this? | PubMed ID: 9098485 | Fulltext

Identification of mutations in cystatin B, the gene responsible for the Unverricht-Lundborg type of progressive myoclonus epilepsy (EPM1).

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Lalioti MD, Mirotsou M, Buresi C, Peitsch MC, Rossier C, Ouazzani R, Baldy-Moulinier M, Bottani A, Malafosse A, and Antonarakis SE

American journal of human genetics 60(2):342, 1997 Feb - Who cited this? | PubMed ID: 9012407 | Fulltext

[Myoglobinuria and familial hematuria with dominant autosomal transmission: mitochondrial disorder or basal lamina disorder?].

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Martin-Du Pan RC, Martin-Du Pan R, Bottani A, Morris M, Bordier B, Myers P, Junod A, and Favre H

Revue medicale de la Suisse romande 116(9):735-41, 1996 Sep - Who cited this? | PubMed ID: 8966475 | Fulltext

The clinical, molecular, and pathological characterisation of a family with two cases of lethal perinatal type 2 Gaucher disease.

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Sidransky E, Tayebi N, Stubblefield BK, Eliason W, Klineburgess A, Pizzolato GP, Cox JN, Porta J, Bottani A, and DeLozier-Blanchet CD

Journal of medical genetics 33(2):132-6, 1996 Feb - Who cited this? | PubMed ID: 8929950 | Fulltext

Myhre-GOMBO syndrome: possible lumping of two "old" new syndromes.

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Bottani A and Verloes A

American journal of medical genetics 59(4):523-4, 1995 Dec 4 - Who cited this? | PubMed ID: 8585577 | Fulltext

Stringent delineation of Pallister-Hall syndrome in two long surviving patients: importance of radiological anomalies of the hands.

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Verloes A, David A, Ngô L, and Bottani A

Journal of medical genetics 32(8):605-11, 1995 Aug - Who cited this? | PubMed ID: 7473651 | Fulltext

On the inheritance of Harlequin ichthyosis.

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Bottani A

Prenatal diagnosis 14(11):1099, 1994 Nov - Who cited this? | PubMed ID: 7877962 | Fulltext

Angelman syndrome due to paternal uniparental disomy of chromosome 15: a milder phenotype?.

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Bottani A, Robinson WP, DeLozier-Blanchet CD, Engel E, Morris MA, Schmitt B, Thun-Hohenstein L, and Schinzel A

American journal of medical genetics 51(1):35-40, 1994 May 15 - Who cited this? | PubMed ID: 8030667 | Fulltext

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