J. Pilch

发表

Agenesis of Corpus Callosum: Clinical Description and Etiology

E. Marszał, E. Jamroz, J. Pilch, 2000, Journal of child neurology.

Cardiac phenotype in ATP1A3-related syndromes

I. Scheffer, S. Sisodiya, M. Thom, 2020, Neurology.

Differential regulation of two FLNA transcripts explains some of the phenotypic heterogeneity in the loss‐of‐function filaminopathies

S. Robertson, M. Hannibal, J. Pilch, 2018, Human mutation.

Next-generation sequencing study reveals the broader variant spectrum of hereditary spastic paraplegia and related phenotypes

J. Pilch, J. Zaremba, A. Sobańska, 2019, neurogenetics.

Dominant GDAP1 mutations cause predominantly mild CMT phenotypes

K. Fischbeck, U. Suter, J. Pilch, 2011, Neurology.

A rare subclinical or mild type of Becker muscular dystrophy caused by a single exon 48 deletion of the dystrophin gene

J. Pilch, J. Zimowski, J. Zaremba, 2017, Journal of Applied Genetics.

Molecular spectrum of the SPAST, ATL1 and REEP1 gene mutations associated with the most common hereditary spastic paraplegias in a group of Polish patients

J. Pilch, C. Beetz, M. Rudzińska, 2015, Journal of the Neurological Sciences.

Genotype-phenotype associations for ARX gene duplication in X-linked mental retardation

J. Pilch, J. Chelly, M. Nawara, 2006, Neurology.

The ARX mutations: A frequent cause of X‐linked mental retardation

J. Pilch, K. Chrzanowska, J. Chelly, 2006, American journal of medical genetics. Part A.

Central hyperventilation in primary CNS lymphoma

J. Pilch, D. A. Krendel, R. Stahl, 1991, Neurology.

Goldberg–Shprintzen syndrome is determined by the absence, or reduced expression levels, of KIFBP

A. Green, R. Hofstra, S. Mansour, 2020, Human mutation.

Nusinersen treatment of Spinal Muscular Atrophy Type 1 - results of expanded access programme in Poland.

J. Pilch, K. Kotulska, J. Paprocka, 2021, Neurologia i neurochirurgia polska.

A cohort of 17 patients with kyphoscoliotic Ehlers–Danlos syndrome caused by biallelic mutations in FKBP14: expansion of the clinical and mutational spectrum and description of the natural history

C. Fauth, C. Bönnemann, J. Pilch, 2017, Genetics in Medicine.

Rare variants in SOS2 and LZTR1 are associated with Noonan syndrome

A. Pereira, M. Passos-Bueno, M. Zatz, 2015, Journal of Medical Genetics.

ASYMMETRIC TESTICULAR DYSGENESIS

J. Pilch, A. Kleczkowska, Z. Nowicki, 1974, Acta paediatrica Scandinavica.

Wolf–Hirschhorn syndrome due to pure and translocation forms of monosomy 4p16.1 → pter

J. Fryns, J. Pilch, P. Iwanowski, 2011, American journal of medical genetics. Part A.

Meiotic and pedigree segregation analyses in carriers of t(4;8)(p16;p23.1) differing in localization of breakpoint positions at 4p subband 4p16.3 and 4p16.1

J. Pilch, R. Śmigiel, M. Sasiadek, 2015, Journal of Assisted Reproduction and Genetics.

Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome

Yves Moreau, Gabriele Gillessen-Kaesbach, Dagmar Wieczorek, 2012, Nature Genetics.

Clinical and molecular‐cytogenetic studies in seven patients with ring chromosome 18

P. Stankiewicz, J. Pilch, A. Wozniak, 2001 .

Topical Review : Friedreich's Ataxia

E. Jamroz, J. Pilch, E. Marsza, 2002 .

Biallelic variants in TMEM222 cause a new autosomal recessive neurodevelopmental disorder

J. Schuurs-Hoeijmakers, S. Antonarakis, R. Płoski, 2021, Genetics in Medicine.

Next-generation sequencing study reveals the broader variant spectrum of hereditary spastic paraplegia and related phenotypes

J. Pilch, J. Zaremba, A. Sobańska, 2019, neurogenetics.

Phenotype and genotype in 103 patients with tricho-rhino-phalangeal syndrome.

R. Hennekam, A. Latos-Bieleńska, A. Shaw, 2015, European journal of medical genetics.

Clinical and molecular-cytogenetic studies in seven patients with ring chromosome 18.

P. Stankiewicz, J. Pilch, A. Wozniak, 2001, American journal of medical genetics.

Ten new ATM alterations in Polish patients with ataxia-telangiectasia

J. Pilch, R. Słomski, A. Lewandowicz-Uszyńska, 2014, Molecular genetics & genomic medicine.

Encephalocraniocutaneous Lipomatosis, a Radiological Challenge: Two Atypical Case Reports and Literature Review

J. Pilch, J. Paprocka, M. Machnikowska-Sokołowska, 2022, Brain sciences.

Physical and developmental phenotype analyses in a boy with Wolf-Hirschhorn syndrome.

J. Pilch, P. Iwanowski, S. Stengel-Rutkowski, 2005, Genetic counseling.

The Pallister-Killian syndrome in a child with rare karyotype—a diagnostic problem

J. Pilch, R. Śmigiel, R. Ślęzak, 2008, European Journal of Pediatrics.

Evidence for HNRNPH1 being another gene for Bain type syndromic mental retardation

R. Płoski, J. Pilch, M. Rydzanicz, 2018, Clinical genetics.

Leukoencephalopathy with Calcifications and Cysts—The First Polish Patient with Labrune Syndrome

R. Płoski, J. Pilch, M. Rydzanicz, 2020, Brain sciences.

Mutations in the COL1A1 and COL1A2 genes associated with osteogenesis imperfecta (OI) types I or III.

J. Pilch, Joanna Witecka, A. Sieron, 2018, Acta biochimica Polonica.

Clinical characteristics of Polish patients with molecularly confirmed Mowat-Wilson syndrome

A. Latos-Bieleńska, E. Obersztyn, J. Pilch, 2021, Journal of Applied Genetics.

Surveyor nuclease detection of mutations and polymorphisms of mtDNA in children.

E. Jamroz, J. Pilch, Joanna Witecka, 2010, Pediatric neurology.

Friedreich's ataxia.

E. Jamroz, J. Pilch, Elzbieta Marszał, 2002, Journal of child neurology.

Dominant GDAP1 mutations cause predominantly mild CMT phenotypes

K. Fischbeck, U. Suter, J. Pilch, 2011, Neurology.